Diabetes Mellitus, Transient Neonatal, 2 |
|
Transient neonatal diabetes mellitus, Type II diabetes mellitus |
OMIM:610374 |
Type 2 Diabetes Mellitus |
|
Insulin resistance, Type II diabetes mellitus |
OMIM:125853 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... |
OMIM:609968 |
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus |
OMIM:600089 |
Maturity-Onset Diabetes Of The Young, Type 4 |
|
Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:606392 |
Maturity-Onset Diabetes Of The Young, Type 7 |
|
Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:610508 |
Type 1 Diabetes Mellitus 15 |
|
Type I diabetes mellitus, Diabetes mellitus |
OMIM:601666 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hypoglycemia |
OMIM:601820 |
Maturity-Onset Diabetes Of The Young, Type 6 |
|
Maturity-onset diabetes of the young |
OMIM:606394 |
Maturity-Onset Diabetes Of The Young, Type 2 |
|
Maturity-onset diabetes of the young |
OMIM:125851 |
Type 1 Diabetes Mellitus 2 |
|
Type I diabetes mellitus |
OMIM:125852 |
Type 1 Diabetes Mellitus 20 |
|
Type I diabetes mellitus |
OMIM:612520 |
Maturity-Onset Diabetes Of The Young, Type 9 |
|
Maturity-onset diabetes of the young |
OMIM:612225 |
Type 1 Diabetes Mellitus 6 |
|
Diabetes mellitus |
OMIM:601941 |
Type 1 Diabetes Mellitus 10 |
|
Diabetes mellitus |
OMIM:601942 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty |
ORPHA:140941 |
Maturity-Onset Diabetes Of The Young, Type 1 |
|
Maturity-onset diabetes of the young |
OMIM:125850 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus |
OMIM:612227 |
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
Mahvash Disease |
|
Recurrent pancreatitis, Type II diabetes mellitus, Pancreatic alpha-cell hyperplasia, Increased g... |
OMIM:619290 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:256450 |
Acid-Labile Subunit Deficiency |
|
Insulin insensitivity, Decreased serum insulin-like growth factor 1, Delayed puberty |
OMIM:615961 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
Multiple Symmetric Lipomatosis |
|
Hepatomegaly, Insulin resistance |
ORPHA:2398 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... |
ORPHA:79299 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Rhizomelic Syndrome |
|
Short stature, Rhizomelia, Bifid distal phalanx of the thumb, Wide anterior fontanel, Hip disloca... |
OMIM:268250 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Refractory anemia with ringed siderob... |
OMIM:133180 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Polycystic ovaries, Hepati... |
ORPHA:79084 |
Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Premature pubarche |
OMIM:614662 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:606762 |
Fanconi Anemia, Complementation Group G |
|
Myelodysplasia, Anemia, Growth delay, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:614082 |
RCAD (renal cysts and diabetes) |
|
Abnormality of the liver, Diabetes mellitus |
DECIPHER:47 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Leukemia, Lymphoma, Monoclonal immuno... |
OMIM:153600 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Lymphoproliferative disorder, Autoimmune thrombocyt... |
OMIM:614470 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Short stature, Abnormality of the elbow, Abnormal rib morphology, Pectus carin... |
ORPHA:3268 |
Gcgr-Related Hyperglucagonemia |
|
Neoplasm of the pancreas, Diabetes mellitus, Increased glucagon level, Cholelithiasis, Abnormal b... |
ORPHA:438274 |
Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism, Hyperglycemia |
OMIM:307500 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Rhizomelic Syndrome, Urbach Type |
|
Abnormality of the knee, Brachydactyly, Rhizomelia, Short stature, Short neck, Abnormality of the... |
ORPHA:3098 |
Optic Atrophy--Spastic Paraplegia Syndrome |
|
Abnormal oral glucose tolerance |
OMIM:311100 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Malignant eosinophil proliferation, Myeloproliferative disorder |
OMIM:131440 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly |
OMIM:607685 |
Glioma susceptibility 9 |
|
Renal neoplasm, Astrocytoma, Glioma, Neoplasm of the lung, Leukemia |
OMIM:616568 |
Osteogenesis Imperfecta, Type Iii |
|
Recurrent fractures, Severe generalized osteoporosis, Protrusio acetabuli, Multiple prenatal frac... |
OMIM:259420 |
Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder, Impaired social interactions, Compulsive behaviors |
OMIM:618830 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Metaphyseal widening, Pectus carinatum, Narrow greater sciatic notch, Osteoporotic tarsals, Enlar... |
OMIM:609052 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Vertebral fusion, Syndactyly, Hypoplastic sacrum, Thoracolumbar scoliosis, ... |
OMIM:113000 |
Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Delayed epiphyseal os... |
ORPHA:93357 |
Asperger Syndrome, Susceptibility To, 1 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:608631 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Myelodysplasia, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thr... |
ORPHA:231401 |
Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Lymphadenopathy, Histiocytosis |
ORPHA:157991 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Short stature, Ovoid vertebral bodies, Hypoplasia of the odontoid process, Coxa vara, Pectus cari... |
OMIM:184255 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly... |
ORPHA:158057 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Anemia, Hepatomegaly |
ORPHA:294 |
Brachyolmia Type 1, Hobaek Type |
|
Osteopenia, Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph... |
OMIM:271530 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Refractory anemia, Myelodysplasia, Lymphoma, Leukopenia, Monocytosis, Bon... |
OMIM:616871 |
Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Ovoid vertebral bodies, Coxa valga, Short neck, Wide anterior fon... |
ORPHA:163649 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... |
ORPHA:75564 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Multiple prenatal fractures, Femoral bowing, Tibial bowing, Decreased skull ossificat... |
OMIM:610915 |
Immunodeficiency 21 |
|
Aplastic anemia, Myelodysplasia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropen... |
OMIM:614172 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber... |
OMIM:156530 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Elevated hepatic transaminase, Hyperglycemia, Hyperinsulinemia |
ORPHA:329249 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Restrictive behavior, Unsteady gait, Impaired ability to form peer relationships, Impaired social... |
OMIM:608636 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia |
ORPHA:35878 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Myelodysplasia, Abnormal erythrocyte mor... |
ORPHA:86841 |
Autism, Susceptibility To, 8 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:607373 |
Autism |
|
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:209850 |
Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Abnormality of the knee, Short stature, Restricted large joint movement, Disproportionate short-t... |
ORPHA:163665 |
Obesity And Hypopigmentation |
|
Hyperinsulinemia, Hepatic steatosis |
OMIM:620195 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Fibrochondrogenesis 1 |
|
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate... |
OMIM:228520 |
Kyphomelic Dysplasia |
|
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ... |
ORPHA:1801 |
Achondroplasia |
|
Hip joint hypermobility, Bowing of the legs, Abnormal iliac wing morphology, Narrow greater sciat... |
ORPHA:15 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp... |
OMIM:609813 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Anemia, Increased mean corpuscular volume, ... |
OMIM:619041 |
Immunodeficiency 24 |
|
Lymphoproliferative disorder, Decreased CD4:CD8 ratio, Reduced proportion of mucosal-associated i... |
OMIM:615897 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diab... |
ORPHA:324575 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Lymphedema, Primary, With Myelodysplasia |
|
Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Leukemia, Decreased CD4:CD8 ratio, Verrucae |
OMIM:614038 |
Snijders Blok-Campeau Syndrome |
|
Joint laxity, Broad-based gait, Inguinal hernia, Infantile spasms, Prominent nose, Unsteady gait,... |
OMIM:618205 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Osteopenia, Small for gestational age, Hypoplasia of the maxilla, Congenital generalized lipodyst... |
OMIM:608154 |
Intellectual Developmental Disorder, Autosomal Recessive 66 |
|
Gait ataxia, Shyness, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:618221 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Metatropic Dysplasia |
|
Severe short stature, Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromeli... |
ORPHA:2635 |
Anauxetic Dysplasia 3 |
|
Beaking of vertebral bodies, Short metacarpal, Severe short stature, Thoracolumbar kyphoscoliosis... |
OMIM:618853 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia, Myelodysplasia |
OMIM:162830 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes mellitu... |
ORPHA:276580 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Short stature, Myelodysplasia, Anemia, Leukopenia, Bone marrow hypocellul... |
OMIM:619151 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ... |
ORPHA:85184 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Prominence of the premaxilla, Inguinal hernia, Anteverted nares, Abnormality of fontanelles, Cong... |
ORPHA:2412 |
Lymphoblastic Leukemia, Acute, With Lymphomatous Features |
|
Acute lymphoblastic leukemia, T-cell acute lymphoblastic leukemias, Lymphoma |
OMIM:247640 |
Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Pectus excavatum, Kyphosis, Pectus... |
OMIM:259440 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Cachexia, Hematological neoplasm, Porta... |
ORPHA:824 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ovaries, Insulin-resista... |
ORPHA:280356 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia,... |
ORPHA:276608 |
Preaxial Hallucal Polydactyly |
|
Diabetes mellitus |
OMIM:601759 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, Short... |
OMIM:201000 |
Craniometadiaphyseal Dysplasia |
|
Osteopenia, Broad long bones, Short stature, Coxa valga, Cubitus valgus, Wide anterior fontanel, ... |
OMIM:269300 |
Frontonasal Dysplasia 1 |
|
Frontal cutaneous lipoma, Pericallosal lipoma, Broad nasal tip, Hypoplasia of the maxilla, Bifid ... |
OMIM:136760 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia |
OMIM:616873 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P... |
OMIM:618728 |
Morbid Obesity And Spermatogenic Failure |
|
Insulin resistance, Hepatic steatosis, Type II diabetes mellitus |
OMIM:615703 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Decreased hip abduction, Lumbar hyperlordosis, Flat capital femoral epiphysis, Disproportionate s... |
OMIM:609223 |
Pelvic Hypoplasia With Lower-Limb Arthrogryposis |
|
Hip contracture, Scapular winging, Lumbar hyperlordosis, Short stature, Knee flexion contracture,... |
OMIM:602484 |
Juvenile Myelomonocytic Leukemia |
|
Juvenile myelomonocytic leukemia |
OMIM:607785 |
Sandestig-Stefanova Syndrome |
|
Prominent metopic ridge, Small for gestational age, Rocker bottom foot, Short neck, Muscular vent... |
OMIM:618804 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis,... |
OMIM:259600 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Myeloproliferative Disease, Autosomal Recessive |
|
Myeloproliferative disorder |
OMIM:254700 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:71529 |
Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh... |
ORPHA:2347 |
Lujan-Fryns Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Prominent nasal bridge, Micrognathia, Hypoplasia of the ... |
ORPHA:776 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal rib mor... |
ORPHA:2790 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Short stature, Camptodactyly of finger, Micromelia, Short neck, Wide anteri... |
ORPHA:2021 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Prominent nose, Short metatarsal,... |
ORPHA:439822 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Unclassified Myelodysplastic Syndrome |
|
Acute myeloid leukemia, Myelodysplasia, Leukocytosis, Bone marrow hypocellularity, Multiple linea... |
ORPHA:98827 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Inability to walk, Abnormal repetitive mannerisms, Impaired social interactions |
OMIM:606053 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes mellitus, Fasting hypoglyc... |
ORPHA:276575 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Insulin resistance, Insulin-re... |
ORPHA:79085 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Beaking of vertebral bodies, Bowing of the long bones, Ovoid vertebral bodies, Joint stiffness, H... |
ORPHA:40 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Myelodysplasia, Neutropenia |
OMIM:610738 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... |
OMIM:612840 |
Immunodeficiency 76 |
|
B-cell lymphoma, Splenomegaly, Lymphadenopathy, Growth delay, T lymphocytopenia, B lymphocytopeni... |
OMIM:619164 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia |
OMIM:618406 |
Cohen Syndrome |
|
Thoracic scoliosis, Decreased response to growth hormone stimulation test, Single transverse palm... |
OMIM:216550 |
Florid Cemento-Osseous Dysplasia |
|
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Abnormal mandib... |
ORPHA:83451 |
Pycnodysostosis |
|
Obtuse angle of mandible, Persistent open anterior fontanelle, Decreased response to growth hormo... |
ORPHA:763 |
Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Pol... |
OMIM:604367 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Myelodysplasia, Thrombocytopenia |
OMIM:252270 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant... |
ORPHA:90301 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... |
ORPHA:171706 |
Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Single transverse palmar crease, Short neck, Hypoplasia ... |
OMIM:305400 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Gonadotropin deficiency,... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Gonadotropin deficiency,... |
ORPHA:71526 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Joint laxity, Wide nose, Diabetes mellitus, Dorsocervical fat pad, Short neck, Osteoporosis, Gene... |
OMIM:616033 |
Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Hyperinsulinemia, Increased serum leptin |
OMIM:617885 |
N Syndrome |
|
Leukemia, Neoplasm |
OMIM:310465 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... |
OMIM:159550 |
Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Short stature, Thrombocytopenia, Bone marrow hypocellularit... |
OMIM:616435 |
Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metatarsal, Pectus carinatum, Irregular vertebral endplates, Overtubula... |
OMIM:618150 |
20P12.3 Microdeletion Syndrome |
|
Broad hallux phalanx, Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Seizu... |
ORPHA:261295 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Wide nose, Abnormal nasal bone morphology, Choanal atresia, Abnormality of the hand, Underdevelop... |
ORPHA:521308 |
Chromosome 16Q22 Deletion Syndrome |
|
Prominent metopic ridge, Broad hallux, Short neck, Postnatal growth retardation, Wide anterior fo... |
OMIM:614541 |
17Q21.31 Microduplication Syndrome |
|
Toe syndactyly, Anteverted nares, Sandal gap, Micrognathia, Attention deficit hyperactivity disor... |
ORPHA:217340 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia, B-cell lymphoma |
OMIM:619437 |
Parastremmatic Dwarfism |
|
Bowing of the long bones, Severe short stature, Short neck, Kyphosis, Flexion contracture, Genu v... |
OMIM:168400 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Pl... |
OMIM:601356 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia |
OMIM:261650 |
Wt Limb-Blood Syndrome |
|
Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia |
OMIM:194350 |
Immunodeficiency 36 With Lymphoproliferation |
|
Short stature, B-cell lymphoma, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Growt... |
OMIM:616005 |
Mesomelic Dysplasia, Kantaputra Type |
|
Short stature, Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal r... |
ORPHA:1836 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Microcephaly-Capillary Malformation Syndrome |
|
Wide nose, Brachydactyly, Small for gestational age, Ventricular septal defect, Infantile spasms,... |
OMIM:614261 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Osteoporosis, Abnorma... |
ORPHA:93351 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic... |
OMIM:262190 |
Essential Fructosuria |
|
Hyperglycemia |
ORPHA:2056 |
Lipodystrophy, Familial Partial, Type 4 |
|
Insulin-resistant diabetes mellitus, Insulin resistance, Hepatic steatosis |
OMIM:613877 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2 |
|
Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Leukemia, Cirrhosis, Myeloid leukemia |
OMIM:614743 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss,... |
ORPHA:3226 |
Maxillonasal Dysplasia |
|
Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ... |
ORPHA:1248 |
Cranial Nerves, Recurrent Paresis Of |
|
Diabetes mellitus |
OMIM:218200 |
Fanconi Anemia, Complementation Group D1 |
|
Acute myeloid leukemia, Short stature, T-cell acute lymphoblastic leukemias, Bone marrow hypocell... |
OMIM:605724 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper... |
OMIM:609616 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Metaphyseal dysplasia, Hypoplasia of the maxilla, Short middle phalanx of the 2nd finger, Multipl... |
OMIM:156510 |
Mody |
|
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Hepatocellular adenoma... |
ORPHA:552 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... |
OMIM:615363 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Portal hypertension, Hematological neoplasm, Hypersplenism, Thrombocytopenia, Leuko... |
ORPHA:98850 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity, Abnormal social behavior |
ORPHA:436151 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Mild postnatal growth retard... |
ORPHA:168549 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia |
OMIM:240900 |
Acquired Partial Lipodystrophy |
|
Insulin resistance, Hepatic steatosis |
ORPHA:79087 |
Li-Fraumeni Syndrome |
|
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... |
ORPHA:524 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatosplenomegaly, Hepatic st... |
OMIM:612526 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Omphalocele, Ulnar deviation of the hand, Congenital diaphragmatic hernia, Micrognathia, Underdev... |
OMIM:263210 |
Familial Renal Glucosuria |
|
Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm... |
ORPHA:69076 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Maturity-onset diabetes of the young, Exocrine pancreatic insufficiency |
OMIM:609812 |
Hepatic Adenomas, Familial |
|
Hepatocellular adenoma, Maturity-onset diabetes of the young, Polycystic ovaries |
OMIM:142330 |
Mismatch Repair Cancer Syndrome 2 |
|
Glioblastoma multiforme, T-cell acute lymphoblastic leukemias |
OMIM:619096 |
Heart Defects-Limb Shortening Syndrome |
|
Mesomelic/rhizomelic limb shortening, Kyphosis, Disproportionate short stature, Abnormal rib morp... |
ORPHA:1354 |
Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Short palm, Inguinal hernia, Finger syndactyly, Anteverted nares, Camp... |
ORPHA:915 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Myelodysplasia, Acute lymphoblastic leukem... |
ORPHA:486 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... |
ORPHA:99886 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Severe short stature, Micromelia, Limitation of joint mobility, Coxa vara, Platyspondyly, Flared,... |
ORPHA:168555 |
Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic bronchitis |
OMIM:130700 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Myeloid leukemia, Hepatomegaly, Neutrophilia, Myelodysplasia, Leukocytosis, Ly... |
ORPHA:98849 |
Craniofacial-Deafness-Hand Syndrome |
|
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Camptodactyly of finger, Ulnar dev... |
ORPHA:1529 |
Stickler Syndrome Type 1 |
|
Hypoplasia of the maxilla, Osteoarthritis, Mitral valve prolapse, Joint hyperflexibility, Platysp... |
ORPHA:90653 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Micromelia, Bowing of the legs, Multiple prenatal fractures, Coxa vara, Narrow chest,... |
OMIM:610682 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Osteopenia, Ulnar deviation of the hand, Congenital diaphragmatic hernia, Micrognathia, Hypoplasi... |
OMIM:166300 |
Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Generalized joint laxity, Delayed epiphyseal ossifica... |
ORPHA:750 |
Larsen-Like Syndrome |
|
Joint laxity, Joint dislocation, Short stature, Kyphoscoliosis, Wide anterior fontanel, Radial de... |
OMIM:608545 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Severe short stature, Missing ribs, Short neck, Disproportionate... |
OMIM:122600 |
Lowry-Maclean Syndrome |
|
Osteopenia, Short nasal bridge, Inguinal hernia, Choanal atresia, Craniosynostosis, Micrognathia,... |
ORPHA:2409 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B-cell lymphoma, Absenc... |
OMIM:619924 |
Primary Erythromelalgia |
|
Leukemia |
ORPHA:90026 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... |
ORPHA:174 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Inguinal hernia, Sacral dimple, Anteverted nares, Depressed nasal bridge, Large for gestational a... |
OMIM:618272 |
Dohle Bodies And Leukemia |
|
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia |
OMIM:223350 |
Mandibuloacral Dysplasia |
|
Micrognathia, Increased intraabdominal fat, Glucose intolerance, Increased circulating free fatty... |
ORPHA:2457 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Tapered finger, Hypoplasia of the maxilla, Inability to walk, Long fingers, Flexion contracture, ... |
OMIM:218000 |
Catel-Manzke Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Micrognathia, Joint stiffness, Metatarsus val... |
ORPHA:1388 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Hypoplasia of the ulna, Short stature, Tapered finger, Short neck, Multiple joint d... |
OMIM:618395 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominence of the premaxilla, Delayed closure of the anterior fontanelle, Prominent nose, Wide an... |
OMIM:614886 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Severe short stature, Block vertebrae, Short stature, Abnormal odont... |
OMIM:277300 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes |
OMIM:616329 |
Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:253240 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... |
OMIM:151623 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia |
OMIM:618858 |
Chromosome 3Q29 Deletion Syndrome |
|
Thin upper lip vermilion, Hyperactivity, Prominent nasal bridge, Aggressive behavior, Tapered fin... |
OMIM:609425 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa... |
ORPHA:1860 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Hypoplasia of the maxilla, Depressed nasal ridge, Atrial septal defect, Thick ... |
ORPHA:79345 |
Grant Syndrome |
|
Joint dislocation, Bowing of the long bones, Short stature, Abnormal rib morphology, Large fontan... |
ORPHA:2097 |
Acrodysostosis |
|
Mandibular prognathia, Micromelia, Hypoplasia of the maxilla, Depressed nasal ridge, Short metata... |
ORPHA:950 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Short stature, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Tri... |
OMIM:617405 |
Atelosteogenesis, Type Iii |
|
Cervical segmentation defect, Radial bowing, Depressed nasal bridge, Rhizomelia, Sandal gap, Micr... |
OMIM:108721 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... |
OMIM:619326 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormal macrophage morphology, Abnormality of neutrophils |
ORPHA:2690 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Micrognathia, Flexion contracture, Glucose intolerance, Hyperglycemia, Short phalanx of finger, L... |
OMIM:608612 |
Eng-Strom Syndrome |
|
Short stature, Camptodactyly of finger, Pectus excavatum, Arthritis, Scoliosis, Intrauterine grow... |
ORPHA:1937 |
Acrootoocular Syndrome |
|
Delayed eruption of teeth, Short metacarpal, Sandal gap, Abnormal finger flexion crease, Microgna... |
ORPHA:2980 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Perlman Syndrome |
|
Inguinal hernia, Femoral hernia, Anteverted nares, Micrognathia, Hyperinsulinemia, Wide nasal bri... |
ORPHA:2849 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Prominent nasal tip, Inguinal hernia, Small for gestational age, Anteverted nares, Decreased palm... |
ORPHA:352490 |
Premature Aging Syndrome, Penttinen Type |
|
Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Elevated circulating thyroid-... |
OMIM:601812 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Hypoplasia of the maxilla, Neonatal epiphyseal stippling, Elevated circula... |
OMIM:101800 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes |
OMIM:610582 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:617787 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Micromelia, Bowing of the legs, Metaphyseal widening, Femoral bowing, Narrow greater sciatic notc... |
OMIM:608728 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Hyperinsulinemia |
ORPHA:66518 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Prominent nasal bridge, Camptodactyly of finger, Tapered finger, Hypoplasia of the maxilla, Seizu... |
ORPHA:85279 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Barrel-shaped chest, Back pain, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, K... |
OMIM:313400 |
Dental Anomalies And Short Stature |
|
Mandibular prognathia, Hypoplasia of the maxilla, Mitral valve prolapse, Platyspondyly, Herniatio... |
OMIM:601216 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Metaphyse... |
ORPHA:2501 |
Nut Midline Carcinoma |
|
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Neur... |
ORPHA:443167 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hypoplasia of the maxilla, Seizure, Small for gestational age, Wide nasal bridge |
OMIM:618302 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Patent ductus arte... |
OMIM:617021 |
Cenani-Lenz Syndrome |
|
Micromelia, Abnormal form of the vertebral bodies, Foot oligodactyly, Hypothyroidism, Synostosis ... |
ORPHA:3258 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Aggressive behavior, Broad nasal tip, Open mouth, Self-injurious behavior, Compulsive behaviors, ... |
OMIM:613670 |
Kagami-Ogata Syndrome |
|
Omphalocele, Inguinal hernia, Ventricular septal defect, Anteverted nares, Depressed nasal bridge... |
OMIM:608149 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia |
ORPHA:369873 |
Chromosome 9P Deletion Syndrome |
|
Micrognathia, Short neck, Atrial septal defect, Long toe, Anteverted nares, Depressed nasal bridg... |
OMIM:158170 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Inguinal hernia, Congenital hip dislocation, Lipodystrophy, Anteverted nares, Carious teeth, Wide... |
OMIM:219200 |
Pseudoachondroplasia |
|
Limited hip extension, Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Osteoart... |
OMIM:177170 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly, B-cell lymphoma, Weight loss |
ORPHA:52416 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Pancytopenia, Aplastic anemia, Myelodysplasia, Mediastinal lymphadenopathy, Bone marrow hypocellu... |
OMIM:614742 |
Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... |
ORPHA:2114 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Lumbar hyperlordosis, Brachydactyly, Overlapping fingers, Broad hallux, Overlapping toe, Triangul... |
OMIM:618167 |
Cohen Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Clinodactyly of the 5th finger, Finger syndactyly, Arach... |
ORPHA:193 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Short neck, Pectus carinatum, Abnormal calcification of the carpa... |
OMIM:271665 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Thoracic kyphoscoliosis, Ataxia, Anteverted nares, Arachnodactyly, Broad hallux, Hypoplasia of th... |
ORPHA:481152 |
Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Wide anterior fontanel, Severe postnatal growth retardation |
OMIM:275100 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Reactive hypoglycemia, Hypoglycemic seizures, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:276556 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Capitate-hamat... |
OMIM:271650 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Nar... |
ORPHA:1452 |
Cleidocranial Dysplasia 2 |
|
Osteopenia, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Wide anterior fontanel, Genu v... |
OMIM:620099 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Osteopenia, Anteverted nares, Sandal gap, Short toe, Anterior open-bite malocclusion, Perimembran... |
OMIM:617877 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Congenital hip dislocation, Elevated circulating creatine kinase concentration, Limited elbow mov... |
OMIM:300280 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology, Short stature |
ORPHA:2435 |
Keipert Syndrome |
|
Broad hallux phalanx, Depressed nasal bridge, Prominent nasal bridge, Short hallux, Aplasia/Hypop... |
ORPHA:2662 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Severe short stature, Missing ribs, Short neck, Hyperlordosis, Abnormal sacrum morphology, Short ... |
ORPHA:1797 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pancreatic bet... |
ORPHA:79644 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Mandibular prognathia, Short attention span, Failure to thrive, Diabetes mellitus, Single transve... |
ORPHA:391372 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Anterior concavity of thoracic vertebrae, Micrognathia, Secundum atrial septal defect... |
OMIM:249420 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Thin upper lip vermilion, Short metacarpal, Dental crowding, Underdeveloped nasal alae, Avascular... |
OMIM:190351 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Weight loss, Lymphocytosis, Hyp... |
ORPHA:514 |
Osteoarthritis With Mild Chondrodysplasia |
|
Short stature, Heberden's node, Joint stiffness, Knee osteoarthritis, Schmorl's node, Irregular v... |
OMIM:604864 |
Dysostosis, Stanescu Type |
|
Narrow nasal bridge, Increased bone mineral density, Persistent open anterior fontanelle, Wormian... |
ORPHA:1798 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Short neck, Decreased circulating T4 concentration, Large fontanelles, Perimembranous ventricular... |
OMIM:608104 |
Marden-Walker Syndrome |
|
Inguinal hernia, Anteverted nares, Dextrocardia, Arachnodactyly, Micrognathia, Short neck, Wide a... |
OMIM:248700 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped metacarpal epiphyses, Short stature, Abnormal femoral neck morphology, Ovoid vertebra... |
ORPHA:63446 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Brachydactyly, Severe short stature, Club-shaped proximal femur, Anterior rib cupping, Hyperlordo... |
OMIM:184250 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Congenital hip dislocation, Bicuspid aortic valve, Ataxia, Ventricular septal defect, Hypoglycemi... |
ORPHA:457279 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias |
OMIM:620044 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Long palm, Prominent nasal bridge, Hypoplasia of the maxilla, Kyphosis, Sc... |
OMIM:300676 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus |
OMIM:606176 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating... |
ORPHA:1227 |
Diastrophic Dysplasia |
|
Joint dislocation, Abnormal clavicle morphology, Proximal placement of thumb, Micromelia, Symphal... |
ORPHA:628 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... |
OMIM:617514 |
Epiphyseal Dysplasia, Multiple, 4 |
|
Epiphyseal dysplasia, Short metacarpal, Short stature, Hypoplasia of the femoral head, Flat capit... |
OMIM:226900 |
Smith-Kingsmore Syndrome |
|
Depressed nasal bridge, Hypoglycemia, Rhizomelia, Large for gestational age, Short proximal phala... |
OMIM:616638 |
Gomez-Lopez-Hernandez Syndrome |
|
Ataxia, Decreased response to growth hormone stimulation test, Craniosynostosis, Anteverted nares... |
OMIM:601853 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Postnatal growth retardati... |
OMIM:608940 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa... |
OMIM:613330 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Ha... |
OMIM:184252 |
Monosomy 5P |
|
Microretrognathia, Finger syndactyly, Inguinal hernia, Recurrent fractures, Short neck, Small han... |
ORPHA:281 |
Autosomal Dominant Brachyolmia |
|
Short stature, Kyphoscoliosis, Increased vertebral height, Short thorax, Platyspondyly, Abnormal ... |
ORPHA:93304 |
Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Syndactyly, Depressed nasal bridge, Broad nasal tip, Wide anterior fon... |
OMIM:619736 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Hip contracture, Hypoplasia of the nasal bone, Knee flexion contracture, Epiphyseal stippling, Ta... |
OMIM:118650 |
Pick Disease Of Brain |
|
Frontotemporal dementia, Polyphagia, Irritability, Disinhibition, Inappropriate laughter, Emotion... |
OMIM:172700 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Disproportionate short-trunk short sta... |
OMIM:608681 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Enlarged epiphyses, Irregularity of vertebral bodies, Wrist swelling, Coxa vara, Abnormal shoulde... |
ORPHA:1159 |
Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Frontotemporal dementia, ... |
ORPHA:275864 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Ataxia, Aggressive behavior, Chorea, Falls, Inappropriate laughter, Bruxism, Abnormal repetitive ... |
OMIM:619150 |
Tetrasomy 5P |
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Pericallosal lipoma, Cyanosis, Anteverted nares, Overlapping toe, Short hallux, Micrognathia, Sho... |
ORPHA:3309 |
Donnai-Barrow Syndrome |
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Omphalocele, Depressed nasal bridge, Ventricular septal defect, Congenital diaphragmatic hernia, ... |
ORPHA:2143 |
Cutaneous Neuroendocrine Carcinoma |
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Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Chronic noninfectious lymphadenopat... |
ORPHA:79140 |
Epiphyseal Dysplasia, Multiple, 6 |
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Abnormality of the knee, Flat distal femoral epiphysis, Flat capital femoral epiphysis, Osteoarth... |
OMIM:614135 |
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer |
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Acute myeloid leukemia |
OMIM:246470 |
Multiple Endocrine Neoplasia Type 4 |
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Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Osteopenia, Acroosteolysis of distal phalanges (feet), Micrognathia, Flexion contracture, Hypergl... |
OMIM:248370 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
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11 pairs of ribs, Overlapping toe, Short stature, Wide anterior fontanel, Fibular hypoplasia, Tri... |
OMIM:201170 |
Smith-Magenis syndrome |
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Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation, Brachydactyly |
DECIPHER:8 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
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Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Coffin-Lowry Syndrome |
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Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Abnormal tricuspid valve morpho... |
ORPHA:192 |
Congenital Generalized Lipodystrophy |
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Mandibular prognathia, Diabetes mellitus, Lipodystrophy, Precocious puberty in females, Hypertrig... |
ORPHA:528 |
Bruck Syndrome 1 |
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Joint laxity, Hip contracture, Short stature, Protrusio acetabuli, Ankle flexion contracture, Kyp... |
OMIM:259450 |
Autosomal Recessive Cutis Laxa Type 2A |
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Inguinal hernia, Persistent open anterior fontanelle, Ataxia, Prominent nasal bridge, Delayed cra... |
ORPHA:357058 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
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Enlarged joints, Short stature, Pectus excavatum, Delayed epiphyseal ossification, Cutaneous synd... |
ORPHA:166024 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
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Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Ataxia, Reduced intraabdominal adipose... |
ORPHA:363400 |
Fraxe Intellectual Disability |
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Hyperactivity, Prominent nasal bridge, Impulsivity, Aggressive behavior, Stereotypical body rocki... |
ORPHA:100973 |
Essential Thrombocythemia |
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Splenomegaly, Myelodysplasia, Abnormal platelet morphology, Acute leukemia |
ORPHA:3318 |
Leukemia, Acute, X-Linked |
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Acute leukemia |
OMIM:308960 |
Leukemia, Acute Monocytic |
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Acute monocytic leukemia |
OMIM:151380 |
Leukemia, Acute Lymphoblastic |
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Acute lymphoblastic leukemia |
OMIM:613065 |
Leukemia, Acute Myeloid |
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Acute myeloid leukemia |
OMIM:601626 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
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Cervical lymphadenopathy, B lymphocytopenia, Failure to thrive in infancy, Abnormally low T cell ... |
OMIM:618987 |
Cernunnos-Xlf Deficiency |
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Anemia, T lymphocytopenia, Growth delay, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
Autism, Susceptibility To, X-Linked 3 |
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Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300496 |
Autism, Susceptibility To, X-Linked 1 |
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Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300425 |
Hypertriglyceridemia 1 |
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Glucose intolerance, Hypopituitarism |
OMIM:145750 |
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
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Osteopenia, Hallux valgus, Diabetes mellitus, Small for gestational age, Micrognathia, Secundum a... |
OMIM:620194 |
Intellectual Developmental Disorder, X-Linked 109 |
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Hyperactivity, Prominent nasal bridge, Impulsivity, Aggressive behavior, Stereotypical body rocki... |
OMIM:309548 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
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Abnormal form of the vertebral bodies, Reduced bone mineral density, Abnormal pelvic girdle bone ... |
ORPHA:2370 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
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Leukemia, Nephroblastoma, Meningioma |
OMIM:602501 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
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Syndactyly, Anteverted nares, Depressed nasal bridge, Proximal placement of thumb, Micrognathia, ... |
OMIM:217980 |
Spondylometaphyseal Dysplasia, Axial |
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Rhizomelia, Anterior rib cupping, Short stature, Proximal femoral metaphyseal irregularity, Dispr... |
OMIM:602271 |
Hypochondroplasia |
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Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Osteoarthritis, Ab... |
ORPHA:429 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
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Persistence of hemoglobin F, Splenomegaly, Pallor, Anemia |
ORPHA:46532 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
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Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ... |
ORPHA:93267 |
Congenital Disorder Of Glycosylation, Type Iie |
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Wide nose, Hypoglycemia, Elevated circulating creatine kinase concentration, Micrognathia, Secund... |
OMIM:608779 |
Acute Panmyelosis With Myelofibrosis |
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Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... |
ORPHA:86843 |
Intellectual Developmental Disorder With Or Without Peripheral Neuropathy |
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Unsteady gait, Retrognathia, Small for gestational age, Wide nasal bridge |
OMIM:619844 |
Temtamy Preaxial Brachydactyly Syndrome |
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Micrognathia, Hypoplasia of the maxilla, Partial duplication of the proximal phalanx of the 3rd f... |
ORPHA:363417 |
Osteogenesis Imperfecta, Type Ii |
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Crumpled long bones, Broad long bones, Recurrent fractures, Beaded ribs, Multiple prenatal fractu... |
OMIM:166210 |
Rubinstein-Taybi Syndrome 1 |
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Single transverse palmar crease, Premature thelarche, Micrognathia, Hypoplasia of the maxilla, Pr... |
OMIM:180849 |
Progeroid Syndrome, Petty Type |
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Mandibular prognathia, Reduced subcutaneous adipose tissue, Lipoatrophy, Wide anterior fontanel, ... |
ORPHA:2963 |
Immunodeficiency 69 |
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Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Failure to thrive, ... |
OMIM:618963 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
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Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Dislocated radial head... |
OMIM:182212 |
Fibular Hemimelia |
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Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, Short tibia, Ar... |
ORPHA:93323 |
Martsolf Syndrome 1 |
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Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Finger joint hy... |
OMIM:212720 |
Coronary Artery Disease, Autosomal Dominant 2 |
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Glucose intolerance, Impaired glucose tolerance, Type II diabetes mellitus |
OMIM:610947 |
Ritscher-Schinzel Syndrome 3 |
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Hypoplasia of the ulna, Anteverted nares, Micrognathia, Wide anterior fontanel, Ulnar bowing, Poo... |
OMIM:619135 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
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Nonketotic hypoglycemia, Abnormal circulating insulin concentration, Hypoglycemic seizures, Incre... |
ORPHA:293964 |
Trichorhinophalangeal Syndrome Type 2 |
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Thin upper lip vermilion, Abnormality of the dentition, Avascular necrosis of the capital femoral... |
ORPHA:502 |
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies |
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Thin upper lip vermilion, Thick nasal alae, Tapered finger, Broad nasal tip, Wide nasal bridge, N... |
OMIM:618147 |
Diabetes Mellitus, Permanent Neonatal, 2 |
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Type I diabetes mellitus, Hyperglycemia |
OMIM:618856 |
Jackson-Weiss Syndrome |
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Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Short met... |
ORPHA:1540 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
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Joint laxity, Hyperextensibility of the finger joints, Narrow nasal bridge, Ventricular septal de... |
OMIM:309520 |
Type 1 Diabetes Mellitus |
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Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
Dysspondyloenchondromatosis |
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Joint dislocation, Enlarged joints, Short stature, Kyphoscoliosis, Osteoarthritis, Generalized jo... |
ORPHA:85198 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:615872 |
Immunodeficiency 75 With Lymphoproliferation |
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Follicular hyperplasia, Lymphoma, Decreased proportion of class-switched memory B cells, Lymphade... |
OMIM:619126 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
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Wide nose, Ataxia, Anteverted nares, Aggressive behavior, Bulbous nose, Unsteady gait, Thick lowe... |
ORPHA:314647 |
Cofs Syndrome |
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Prominent metopic ridge, Camptodactyly of finger, Micrognathia, Joint stiffness, Abnormal nasal m... |
ORPHA:1466 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
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Acute myeloid leukemia, Acute monocytic leukemia, Myelodysplasia, Lymphoma, Neuroblastoma, Abnorm... |
OMIM:601399 |
Wolfram-Like Syndrome |
|
Diabetes mellitus, Glucose intolerance, Primary gonadal insufficiency, Delayed puberty, Male hypo... |
ORPHA:411590 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... |
ORPHA:95699 |
Immunodeficiency 104 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, T lymphocytopenia, Failure to thrive secondary to re... |
OMIM:608971 |
8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Craniosynostosis, Short neck, Hypoplasia ... |
ORPHA:178303 |
Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Kaposi's sarcoma, Coombs-positive hemolytic anemia |
OMIM:615593 |
Zellweger Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Micrognathia, Wide anterior fontanel, Primary ... |
ORPHA:912 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Failure to thrive, Neutropenia, Absent circulating B cells, Abnormal T cell morphology |
OMIM:613501 |
Thoracolaryngopelvic Dysplasia |
|
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ... |
OMIM:187760 |
Short Stature, Dauber-Argente Type |
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Osteopenia, Delayed eruption of teeth, Long toe, Arachnodactyly, Decreased fibular diameter, Long... |
OMIM:619489 |
Autosomal Recessive Distal Osteolysis Syndrome |
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Hypoplasia of the maxilla, Short distal phalanx of finger, Osteolysis, Broad nasal tip |
ORPHA:2776 |
11Q22.2Q22.3 Microdeletion Syndrome |
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Short attention span, Thin upper lip vermilion, Depressed nasal bridge, Micrognathia, High, narro... |
ORPHA:444002 |
Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
Glioma Susceptibility 3 |
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Acute myeloid leukemia, Glioblastoma multiforme, Astrocytoma, B Acute Lymphoblastic Leukemia, Med... |
OMIM:613029 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
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Micrognathia, Short neck, Hypothyroidism, Joint laxity, Anteverted nares, Deviation of the 5th to... |
ORPHA:391408 |
20P13 Microdeletion Syndrome |
|
Finger syndactyly, Failure to thrive in infancy, Prominent nasal bridge, Wide anterior fontanel, ... |
ORPHA:313781 |
Desbuquois Dysplasia 1 |
|
Triangular shaped phalanges of the hand, Short neck, Osteoarthritis, Metaphyseal widening, Short ... |
OMIM:251450 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Osteopenia, Joint laxity, Hallux valgus, Contracture of the proximal interphalangeal joint of the... |
OMIM:130060 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
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Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Feingold Syndrome 2 |
|
Short stature, Short middle phalanx of the 2nd finger, Short thumb, Postnatal growth retardation,... |
OMIM:614326 |
Thoracomelic Dysplasia |
|
Short neck, Hyperlordosis, Elbow dislocation, Abnormal fibula morphology, Genu valgum, Bell-shape... |
ORPHA:1803 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Irritability, Tics, At... |
ORPHA:66624 |
Intellectual Disability, Wolff Type |
|
Microretrognathia, Inguinal hernia, Camptodactyly of finger, Bulbous nose, Limitation of joint mo... |
ORPHA:3080 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Mandibular prognathia, Hallux valgus, Cone-shaped epiphyses of the 3rd toe, Hypoplasia of the max... |
ORPHA:397973 |
Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ... |
ORPHA:231222 |
Cerebrofacioarticular Syndrome |
|
Osteopenia, Syndactyly, Ataxia, Micrognathia, Hypoplasia of the maxilla, Bilateral choanal atresi... |
ORPHA:314679 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Inguinal hernia, Small for gestational age, Ventricular septal defect, Sagittal craniosynostosis,... |
OMIM:314320 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Abn... |
OMIM:102510 |
Lipodystrophy, Familial Partial, Type 6 |
|
Insulin resistance, Diabetes mellitus, Hepatic steatosis |
OMIM:615980 |
Immunodeficiency 8 With Lymphoproliferation |
|
Lymphopenia |
OMIM:615401 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Hepatic steatosis |
ORPHA:436182 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Sacral dimple, Ventricular septal defect, Prominent nasal bridge, Overlapping toe, Tapered finger... |
OMIM:617452 |
Acute Peripheral Arterial Occlusion |
|
Myocardial infarction, Abnormal capillary physiology, Leukocytosis, Absent ankle pulse, Stroke, P... |
ORPHA:90064 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Abnormal repetitive mannerisms, Emotional lability, Agitation, Aggressive behavior |
OMIM:617171 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Inguinal hernia, Ventricular septal defect, Small for gestational age, Fifth finger distal phalan... |
ORPHA:3369 |
Acrocallosal Syndrome |
|
Abnormal clavicle morphology, Postaxial hand polydactyly, Wide anterior fontanel, Triphalangeal t... |
ORPHA:36 |
Osteoglophonic Dysplasia |
|
Osteopenia, Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short metatarsal, Erupt... |
OMIM:166250 |
Sprengel Deformity |
|
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... |
OMIM:184400 |
Van Maldergem Syndrome 2 |
|
Osteopenia, Short fourth metatarsal, Micrognathia, Hypoplasia of the maxilla, Cutaneous syndactyl... |
OMIM:615546 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Taper... |
OMIM:301040 |
Periventricular Nodular Heterotopia 7 |
|
Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Ataxia, E... |
OMIM:617201 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphadenopathy, Mastocytos... |
ORPHA:66661 |
Distal Xq28 Microduplication Syndrome |
|
Epistaxis, Broad nasal tip, Hypoplasia of the maxilla, Patent foramen ovale, Metatarsus adductus,... |
ORPHA:293939 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis, Abnormal digit morph... |
ORPHA:208441 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Insulin resistance, Insulin-re... |
ORPHA:435660 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Depressed nasal bridge, Choanal atresia, Arachnodactyly, Rocker bottom foot, Wide anterior fontan... |
OMIM:207410 |
Trimethylaminuria |
|
Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... |
ORPHA:822 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Weight loss, Lymphadenopathy, Anemia |
ORPHA:100024 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Polycystic ovaries, Type II dia... |
ORPHA:3085 |
Ritscher-Schinzel Syndrome 2 |
|
Prominent fingertip pads, Syndactyly, Ventricular septal defect, Camptodactyly of finger, Broad h... |
OMIM:300963 |
Van Maldergem Syndrome 1 |
|
Osteopenia, Joint laxity, Short fourth metatarsal, Sacral dimple, Wide cranial sutures, Wide ante... |
OMIM:601390 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... |
ORPHA:93314 |
N-Acetylaspartate Deficiency |
|
Short attention span, Broad-based gait, Unsteady gait, Truncal ataxia, Abnormal repetitive manner... |
OMIM:614063 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Postnatal growth retardation, J... |
ORPHA:79303 |
Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Inguinal hernia, Broad hallux, Craniosynostosis, 1-3 toe syndactyly, Preaxi... |
OMIM:175700 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Epiphyseal stippling, Wide anterior fontanel |
OMIM:614859 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
Retinitis Pigmentosa |
|
Hypogonadism, Abnormal testis morphology, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:791 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Brachydactyly, Prominent nasal bridge, Micrognathia, Hypoplasia of the max... |
OMIM:300534 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Delayed eruption of teeth, Pain insensitivity, Anteverted nares, Prominent nasal bridge, Dental c... |
OMIM:618825 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Broad nasal tip, Secundum atrial septal defect, Bifid nasal tip, Short foot, Seizure, Clinodactyl... |
OMIM:619758 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Short stature, Recurrent fractures, Short neck, Limitation of joint mobility, Abnormal rib morpho... |
ORPHA:1486 |
Aneurysm, Intracranial Berry, 12 |
|
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... |
OMIM:618734 |
Opitz-Kaveggia Syndrome |
|
Multiple joint contractures, Single transverse palmar crease, Micrognathia, Prominent nose, Short... |
OMIM:305450 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Overlapping toe, Carious teeth, Long nose, Muscular ventricular septal defect, Dental malocclusio... |
ORPHA:363444 |
Alg9-Cdg |
|
Micrognathia, Short neck, Right ventricular dilatation, Abnormal left ventricular outflow tract m... |
ORPHA:79328 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Hodgkin lymphoma, Absent circulating B c... |
OMIM:620282 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Single lineage myelodysplasia, Anemia of inadequate production, Leukocyto... |
ORPHA:86839 |
Juberg-Hayward Syndrome |
|
Severe short stature, Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal rib morphol... |
ORPHA:2319 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Mandibular prognathia, Eunuchoid habitus, Wide nose, Cleft ala nasi, Narrow nasal base, Febrile s... |
ORPHA:3044 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Dental crowding, Micrognathia, High palate, Short philtrum, Abnormal repetitive mannerisms, Hyper... |
OMIM:618342 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Micrognathia, Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the d... |
OMIM:268310 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Micromelia, Short neck, Narrow chest, Neonatal short-limb short stature, Severe limb shortening, ... |
OMIM:151210 |
Greenberg Dysplasia |
|
Abnormally ossified vertebrae, Rhizomelia, Micromelia, Abnormal pelvis bone ossification, Anterio... |
ORPHA:1426 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Lymphoproliferative disorder, B-cell lymphoma, Auto... |
OMIM:300853 |
Trichorhinophalangeal Syndrome Type 1 |
|
Short metacarpal, Camptodactyly of finger, Micrognathia, Avascular necrosis of the capital femora... |
ORPHA:77258 |
Dyggve-Melchior-Clausen Disease |
|
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral... |
OMIM:223800 |
Intellectual Developmental Disorder, X-Linked 91 |
|
Small hand, Obesity, Short foot, Seizure, Short 5th finger, Cubitus valgus, Clinodactyly, Short nose |
OMIM:300577 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, M... |
OMIM:213980 |
Childhood Disintegrative Disorder |
|
Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora... |
ORPHA:168782 |
Insulin-Like Growth Factor I, Resistance To |
|
Reduced subcutaneous adipose tissue, Diabetes mellitus, Ventricular septal defect, Lipodystrophy,... |
OMIM:270450 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Seizure, Atrial septal defect... |
ORPHA:79113 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Small for gestational age, Failure to thrive in infancy, Depressed nasal bridge, Wide anterior fo... |
OMIM:617241 |
Craniodiaphyseal Dysplasia |
|
Diaphyseal thickening, Craniofacial hyperostosis, Abnormal rib morphology, Short stature |
ORPHA:1513 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618709 |
Cdkl5-Deficiency Disorder |
|
Hallux valgus, Broad proximal phalanges of the hand, Impaired pain sensation, Deep philtrum, Gait... |
ORPHA:505652 |
Peroxisome Biogenesis Disorder 7A (Zellweger) |
|
Epiphyseal stippling, Large posterior fontanelle, Wide anterior fontanel, Talipes equinovarus |
OMIM:614872 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Short hallux, Spinal rigidity, Limitation of joint mobility, Ectopic ossification ... |
ORPHA:337 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Myocardial necrosis, Pancytopenia, Hepatomegaly, Small for gestational ag... |
OMIM:260400 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
Marshall-Smith Syndrome |
|
Thoracic scoliosis, Large sternal ossification centers, Distal widening of metacarpals, Coxa vara... |
OMIM:602535 |
Heart And Brain Malformation Syndrome |
|
Prominent metopic ridge, Anteverted nares, Ventricular septal defect, Camptodactyly of finger, De... |
OMIM:616920 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Depressed nasal bridge, Anteverted nares, Wide anterior fontanel, Large fontanelles, Seizure, Fai... |
OMIM:614883 |
Developmental And Epileptic Encephalopathy 73 |
|
Narrow nasal bridge, Inguinal hernia, Flexion contracture, Seizure, Hip dysplasia, Scoliosis, Sho... |
OMIM:618379 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Wide cranial sutures, Broad long bones, Fifth finger distal phalanx cl... |
OMIM:257850 |
Hallermann-Streiff Syndrome |
|
Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, Choreoathetosi... |
OMIM:234100 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Hyperextensibility of the finger joints, Short neck, Atrial septal defect, Ataxia, Arachnodactyly... |
ORPHA:505237 |
Cleidocranial Dysplasia 1 |
|
Micrognathia, Short middle phalanx of the 2nd finger, Absent frontal sinuses, High, narrow palate... |
OMIM:119600 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Choanal atresia, Hypoplasia of the maxilla, Abnormal sacrum morphology, Abnormal form of the vert... |
ORPHA:93262 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Short palm, Antegonial notching of man... |
OMIM:170390 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Mandibular prognathia, Craniofacial hyperostosis, Depressed nasal bridge, Cortical sclerosis, Cra... |
OMIM:122860 |
Lissencephaly, X-Linked, 2 |
|
Prominent nasal bridge, Micrognathia, Wide anterior fontanel, Wide nasal bridge, Seizure |
OMIM:300215 |
Shprintzen-Goldberg Syndrome |
|
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Antev... |
ORPHA:2462 |
Renal Hypodysplasia/Aplasia 4 |
|
Pulmonary hypoplasia |
OMIM:619887 |
Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Neoplasm of head and neck, Imbalanced hemoglobin synthesi... |
ORPHA:99867 |
Mohr Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Short palm, Clinodactyly of the 5th finger, Syndactyly, ... |
OMIM:252100 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperglycemia |
OMIM:608600 |
Neonatal Adrenoleukodystrophy |
|
Anteverted nares, Wide anterior fontanel, Primary adrenal insufficiency, Wide nasal bridge, Seizu... |
ORPHA:44 |
Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of the dentition, Supernumerary tooth, Oligodontia, Short 5th metacarpal, Brachydactyly |
ORPHA:1264 |
Fetal Akinesia Deformation Sequence 4 |
|
Rocker bottom foot, Micrognathia, Short neck, Kyphosis, Wide nasal bridge, Camptodactyly, Neonata... |
OMIM:618393 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the f... |
OMIM:101600 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia |
OMIM:259710 |
Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ... |
OMIM:212050 |
Sweeney-Cox Syndrome |
|
2-4 finger syndactyly, Prominent metopic ridge, 2-5 finger cutaneous syndactyly, Choanal atresia,... |
OMIM:617746 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr... |
ORPHA:231226 |
Renal Hypodysplasia/Aplasia 2 |
|
Pulmonary hypoplasia |
OMIM:615721 |
Mismatch Repair Cancer Syndrome 1 |
|
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... |
OMIM:276300 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Aplasia/Hypoplasia of the thumb, Prominent nasal bridge, Tarsal synostosis, Ab... |
ORPHA:1307 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Osteoarthritis, Ulnar bowing, Flared me... |
OMIM:602111 |
Jeune Syndrome |
|
Abnormal clavicle morphology, Toe syndactyly, Short stature, Micromelia, Postaxial hand polydacty... |
ORPHA:474 |
Osteogenesis Imperfecta, Type Xvi |
|
Osteopenia, Multiple rib fractures, Angulated humerus, Bowing of the long bones, Short stature, R... |
OMIM:616229 |
Chromosome 15Q26-Qter Deletion Syndrome |
|
Small for gestational age, Micrognathia, Wide nasal bridge, Abnormal cardiac septum morphology, S... |
OMIM:612626 |
Greenberg Dysplasia |
|
Micromelia, Micrognathia, Multiple prenatal fractures, Hypoplasia of the maxilla, Patchy variatio... |
OMIM:215140 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... |
ORPHA:785 |
Orofaciodigital Syndrome Iii |
|
Pectus excavatum, Bulbous nose, Postaxial hand polydactyly, Supernumerary tooth, Tongue nodules, ... |
OMIM:258850 |
Immunodeficiency 54 |
|
Hepatomegaly, Lymphoproliferative disorder, Short stature, Postnatal growth retardation, Splenome... |
OMIM:609981 |
Osteogenesis Imperfecta, Type Xxi |
|
Barrel-shaped chest, Recurrent fractures, Bowing of the legs, Pectus excavatum, Coxa valga, Osteo... |
OMIM:619131 |
Smith-Mccort Dysplasia 1 |
|
Short neck, Short phalanx of finger, Genu varum, Barrel-shaped chest, Short metacarpal, Short sta... |
OMIM:607326 |
Melnick-Needles Syndrome |
|
Craniofacial hyperostosis, Bowing of the long bones, Short stature, Delayed cranial suture closur... |
ORPHA:2484 |
Halperin-Birk Syndrome |
|
Inguinal hernia, Generalized-onset seizure, Congenital diaphragmatic hernia, Micrognathia, Inabil... |
OMIM:618651 |
Schneckenbecken Dysplasia |
|
Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Dumbbell-shaped long bone, Adva... |
OMIM:269250 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hallux valgus, Smooth philtrum, Hyperactivity, Thin upper lip vermilion, Ataxia, Micrognathia, Pe... |
OMIM:614104 |
Verheij Syndrome |
|
Joint laxity, Vertebral fusion, Small for gestational age, Ventricular septal defect, Anteverted ... |
OMIM:615583 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Rhizomelia, Iliac ... |
ORPHA:239 |
Andersen-Tawil Syndrome |
|
Joint laxity, Abnormality of dental color, Persistence of primary teeth, Hypoplasia of the maxill... |
ORPHA:37553 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Recurrent bronchitis |
OMIM:300455 |
Developmental And Epileptic Encephalopathy 66 |
|
Broad-based gait, Ventricular septal defect, Dextrocardia, Bilateral tonic-clonic seizure, Tonic ... |
OMIM:618067 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Hyperglycemia, Glycosuria |
OMIM:618857 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Small for gestational age, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... |
OMIM:245570 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Cryptorchidism, Insulin resistanc... |
OMIM:615381 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Lethargy, Wide anterior fontanel, Failure to thrive in infancy, Cardiomegaly |
OMIM:619064 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperinsulinemia, Glycosuria, Pancreatic islet-cell ... |
ORPHA:263455 |
Lethal Osteosclerotic Bone Dysplasia |
|
Anteverted nares, Micrognathia, Short neck, Depressed nasal ridge, Large fontanelles, Mandibular ... |
ORPHA:1832 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Osteopenia, Short humerus, Inguinal hernia, Decreased circulating plasmalogen concentration, Ante... |
OMIM:222765 |
Filippi Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, Underdeveloped nasal alae, 2-4 toe sy... |
OMIM:272440 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Mandibular prognathia, Failure to thrive, Micrognathia, Hypoplasia of the maxilla, Broad nasal ti... |
OMIM:620157 |
Zimmermann-Laband Syndrome |
|
Hallux valgus, Wide nose, Micrognathia, Supernumerary tooth, Bulbous nose, Gingival fibromatosis,... |
ORPHA:3473 |
Syndromic Recessive X-Linked Ichthyosis |
|
Testicular seminoma, Short stature, Acute leukemia |
ORPHA:281090 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Depressed nasal bridge, Tarsal synostosis, Duplication of thumb pha... |
ORPHA:2756 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Ulnar deviation of the hand, Ventricular septal defect, Anteverted nares, Adrenal hypoplasia, Mic... |
OMIM:214100 |
Isolated Arrhinia |
|
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ... |
ORPHA:1134 |
Osteomesopyknosis |
|
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... |
ORPHA:2777 |
Lig4 Syndrome |
|
Hepatomegaly, Pancytopenia, Leukocytosis, Lymphoma, Acute leukemia, Lymphadenopathy, Growth delay |
ORPHA:99812 |
Distal Deletion 12Q |
|
Single transverse palmar crease, Micrognathia, Short neck, Aplasia/Hypoplasia of the middle phala... |
ORPHA:96149 |
Osteogenesis Imperfecta, Type Xv |
|
Short stature, Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fra... |
OMIM:615220 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Small for gestational age, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal ... |
OMIM:620135 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:615228 |
Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Tibial bowing, Ca... |
ORPHA:1106 |
Campomelic Dysplasia |
|
Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia, Delayed epiphyseal o... |
OMIM:114290 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Single transverse palmar crease, Micrognathia, Hypoplasia of the maxilla, ... |
ORPHA:96334 |
Pentasomy X |
|
Camptodactyly of finger, Micrognathia, Small hand, Wide nasal bridge, Short foot, Radioulnar syno... |
ORPHA:11 |
Ogden Syndrome |
|
Large posterior fontanelle, Congenital hip dislocation, Bicuspid aortic valve, Generalized-onset ... |
OMIM:300855 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Mandibular prognathia, Kyphosis, Truncal obesity, Seizure, Gait disturbance, Scoliosis, Short nose |
ORPHA:2429 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Inability to walk, Self-injurious behavior, Abnormal repetitive mannerisms, Impaired social inter... |
OMIM:617820 |
Donnai-Barrow Syndrome |
|
Omphalocele, Ventricular septal defect, Depressed nasal bridge, Congenital diaphragmatic hernia, ... |
OMIM:222448 |
Cardioacrofacial Dysplasia 1 |
|
Postaxial polydactyly, Hypoplasia of the maxilla, Complete atrioventricular canal defect, Genu va... |
OMIM:619142 |
Transaldolase Deficiency |
|
Ventricular septal defect, Small for gestational age, Depressed nasal bridge, Short neck, Wide an... |
OMIM:606003 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Mandibular prognathia, Short metacarpal, Diabetes mellitus, Anteverted nares, Depressed nasal bri... |
OMIM:614613 |
Beta-Thalassemia Major |
|
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... |
ORPHA:231214 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, T lymphocyt... |
OMIM:615513 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Small for gestational age, Decreased body weight |
ORPHA:93950 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Lymphocytosis, Hepatomegaly |
OMIM:606445 |
Acrofrontofacionasal Dysostosis 2 |
|
Syndactyly, Sacral dimple, Broad hallux, Short stature, Wide anterior fontanel, Hand polydactyly,... |
OMIM:239710 |
Myhre Syndrome |
|
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Hypoplastic iliac wing, Atrial sept... |
OMIM:139210 |
Lamb-Shaffer Syndrome |
|
Depressed nasal bridge, Overlapping toe, Long fingers, Bulbous nose, Vertebral clefting, Wide nas... |
OMIM:616803 |
Split-Hand/Foot Malformation 3 |
|
Microretrognathia, Hypoplasia of the maxilla, Split hand, Camptodactyly |
OMIM:246560 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Lymphoma, Lymphadenopathy, Growth delay, Ascites, Anemia |
ORPHA:100025 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia |
OMIM:206400 |
Frank-Ter Haar Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Inguinal hernia, Depressed nasal bridge, Campto... |
ORPHA:137834 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Anteverted nares, Short neck, Micrognathia, Short nose, Abnormal vertebral morphology |
ORPHA:2015 |
Chilblain Lupus |
|
Chronic myelomonocytic leukemia |
ORPHA:90280 |
Osteogenesis Imperfecta, Type V |
|
Osteopenia, Hyperextensibility of the finger joints, Wormian bones, Short stature, Recurrent frac... |
OMIM:610967 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Micrognathia, Short neck, Short palm, Clinodactyly of the 5th finger, Depressed nasal bridge, Bro... |
OMIM:620073 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Tented upper lip vermilion, Ataxia, Sandal gap, Macrodontia, Abnormal repetitive m... |
ORPHA:228402 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Hyperextensibility of the finger joints, Rhizomelia, Single transverse palmar crease, Micrognathi... |
OMIM:618821 |
Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Bowing of the long bones, Short stature, Coxa valga, Short neck, Hyperlordosis... |
ORPHA:582 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc... |
OMIM:619846 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Scapular winging, Hypoglycemia, Elevated circulating creatine kinase concentration, Depressed nas... |
ORPHA:26791 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Short stature, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue his... |
OMIM:607616 |
Immunodeficiency 19 |
|
T lymphocytopenia, Failure to thrive, Abnormal B cell morphology, Abnormal natural killer cell mo... |
OMIM:615617 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Prominent nasal tip, Inguinal hernia, Small for gestational age, Anteverted nares, Depressed nasa... |
OMIM:615834 |
Nance-Horan Syndrome |
|
Mandibular prognathia, Short metacarpal, Prominent nasal bridge, Prominent nose, Abnormality of t... |
ORPHA:627 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Aggressive behavior, Frontotemporal dementia, Inappropriate behavior, Disinhibition... |
OMIM:600795 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lymphopenia, Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Failure... |
ORPHA:277 |
Immunodeficiency 102 |
|
Hepatomegaly, Autoimmune thrombocytopenia, Nodular regenerative hyperplasia of liver, Neutropenia... |
OMIM:301082 |
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome |
|
Adducted thumb, Wide nasal bridge, Micrognathia |
ORPHA:3207 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Short stature, Metaphyseal cupping of proximal phalanges, Thin ribs... |
OMIM:300863 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Severe short stature, Rhizomelia, Lumbar hyperlordosis, Kyphosis, Wide anterior fontanel, Disprop... |
OMIM:616482 |
Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Enlarged polycystic ovaries, Abnormal circulating leptin concentration, Insulin... |
ORPHA:2298 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Ectopi... |
ORPHA:2919 |
Bartsocas-Papas Syndrome 2 |
|
2-5 finger cutaneous syndactyly, Wide anterior fontanel, Small hand, Antecubital pterygium, Popli... |
OMIM:619339 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Postnatal growth retardation, Thin clavicles,... |
ORPHA:93324 |
Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Mandibular prognathia, Beaking of vertebral ... |
OMIM:231070 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Diabetes melli... |
ORPHA:280365 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
Spastic Paraplegia 16, X-Linked |
|
Hypoplasia of the maxilla, Shuffling gait, Short distal phalanx of finger |
OMIM:300266 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Dextrocardia, Camptodactyly of finger, Micrognathia, Wide nasal bridge... |
ORPHA:2863 |
Osteogenesis Imperfecta, Type Xix |
|
Osteopenia, Severe short stature, Rhizomelia, Recurrent fractures, Bowing of the legs, Pectus exc... |
OMIM:301014 |
Acrocallosal Syndrome |
|
Mandibular prognathia, Clinodactyly of the 5th finger, Microretrognathia, Finger syndactyly, Pers... |
OMIM:200990 |
Hypomandibular Faciocranial Dysostosis |
|
Micrognathia, Hypoplasia of the maxilla, Choanal stenosis, Atrial septal defect, Malar flattening... |
OMIM:241310 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis |
OMIM:247800 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphoma, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia, ... |
ORPHA:397596 |
Lamb-Shaffer Syndrome |
|
Hyperactivity, Ataxia, Micrognathia, Broad nasal tip, Hip dysplasia, Thoracic kyphosis, Thick ver... |
ORPHA:530983 |
Acrofacial Dysostosis, Palagonia Type |
|
Finger syndactyly, Micrognathia, High, narrow palate, Supernumerary tooth, Bulbous nose, Small ha... |
ORPHA:1787 |
Diffuse Cutaneous Mastocytosis |
|
Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormality of the liver, Myeloprolifer... |
ORPHA:79456 |
Fg Syndrome 4 |
|
Seizure, Wide nasal bridge, Scoliosis |
OMIM:300422 |
Storage Pool Platelet Disease |
|
Myelodysplasia, Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Prominent metopic ridge, Sacral dimple, Small for gestational age, Anteverted nares, Depressed na... |
OMIM:613792 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral bowing, Metaphyseal cuppin... |
OMIM:156500 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Short neck, Short metatarsal, Femoral bowing, Tibi... |
OMIM:304120 |
Cleft Velum |
|
Velopharyngeal insufficiency, Cleft soft palate, Aspiration pneumonia |
ORPHA:99772 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... |
ORPHA:93352 |
Familial Cervical Artery Dissection |
|
Striae distensae, Carotid artery dissection, Transient ischemic attack, Subarachnoid hemorrhage, ... |
ORPHA:36382 |
Saethre-Chotzen Syndrome |
|
Proximal radio-ulnar synostosis, Finger syndactyly, Hallux valgus, Brachydactyly, Depressed nasal... |
ORPHA:794 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, B-cell lymphoma, Splenomegaly, Lymphoma, Breast carcinoma, Weight loss, Lymphadenop... |
ORPHA:86893 |
Microcephaly-Micromelia Syndrome |
|
Wide nose, Craniosynostosis, Micrognathia, Micromelia, Absent thumb, Absent radius, Humeroradial ... |
OMIM:251230 |
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia |
ORPHA:3196 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Waddling gait, Everted upper lip vermilion, Shyness, Bulbous nose, Wide mouth, High palate, Short... |
ORPHA:280763 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux... |
ORPHA:93284 |
Six2-Related Frontonasal Dysplasia |
|
Absent/hypoplastic paranasal sinuses, Small for gestational age, Depressed nasal bridge, Broad na... |
ORPHA:488437 |
Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Long fingers, Scoliosis, Advanc... |
OMIM:614753 |
Seckel Syndrome 10 |
|
Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating aspartate... |
OMIM:617253 |
X-Linked Intellectual Disability, Porteous Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Bulbous nose, Decreased body weight |
ORPHA:93945 |
Placental Insufficiency |
|
Insulin resistance |
ORPHA:439167 |
Microphthalmia, Syndromic 12 |
|
Neonatal death, Intestinal malrotation, Pulmonary hypoplasia, Cleft palate |
OMIM:615524 |
Isolated Klippel-Feil Syndrome |
|
Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder morphology, Ab... |
ORPHA:2345 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I... |
OMIM:150550 |
Immunodeficiency 15A |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:618204 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent lower respiratory tract infections, R... |
OMIM:616726 |
Nasu-Hakola Disease |
|
Acute leukemia |
ORPHA:2770 |
Melanocytic Nevus Syndrome, Congenital |
|
Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Short nose |
OMIM:137550 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Small for gestational age, Short stature, Reticulocytopenia, Anemia, Neutropenia, L... |
OMIM:600901 |
Cole-Carpenter Syndrome |
|
Crumpled long bones, Bowing of the long bones, Short stature, Recurrent fractures, Kyphosis, Abno... |
ORPHA:2050 |
Mend Syndrome |
|
Sacral dimple, Broad hallux, Prominent nasal bridge, Overlapping toe, Micrognathia, Wide anterior... |
ORPHA:401973 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Mandibular prognathia, Thoracic scoliosis, Bicuspid aortic valve, Micrognathia, Short neck, Gener... |
ORPHA:508498 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Splenomegaly, Failure to thrive, Hepatomegaly |
OMIM:269840 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Osteopenia, Hypoglycemia, Kyphoscoliosis, Hip dislocation, Retrognathia, Wide nasal bridge, Seizu... |
OMIM:618005 |
7Q31 Microdeletion Syndrome |
|
Short attention span, Prominent fingertip pads, Wide nasal ridge, Prominent nose, Hypoplasia of t... |
ORPHA:251061 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Single transverse palmar crease, Micromelia, Finger joint hypermobility, Atrial septal defect, Pa... |
OMIM:618870 |
3P25.3 Microdeletion Syndrome |
|
Mandibular prognathia, Proximal placement of thumb, Micrognathia, Prominent nose, Knee flexion co... |
ORPHA:435638 |
Zollinger-Ellison Syndrome |
|
Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ... |
ORPHA:913 |
Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Joint stiffness, Pectus ... |
ORPHA:392 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Myelodysplasia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, ... |
ORPHA:71493 |
Distal Deletion 19P |
|
Long toe, Vaginal hernia, Ventricular septal defect, Arachnodactyly, Hypoplasia of the maxilla, D... |
ORPHA:96129 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... |
OMIM:603552 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Large posterior fontanelle, Postaxial polydactyly, Short neck, Lateral clavicle hook, Wide anteri... |
OMIM:617925 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Mandibular prognathia, Bicuspid aortic valve, Single transverse palmar crease, Micrognathia, Prom... |
OMIM:612474 |
Non-Distal Duplication 10Q |
|
Depressed nasal bridge, Micrognathia, Joint hyperflexibility, Cognitive impairment, Scoliosis, Sh... |
ORPHA:1695 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Baker-Gordon Syndrome |
|
Thin upper lip vermilion, Ataxia, Inability to walk, Choreoathetosis, Self-injurious behavior, Pr... |
OMIM:618218 |
Chromosome 10Q26 Deletion Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Prominent nose, Short ... |
OMIM:609625 |
Achondrogenesis Type 1B |
|
Severe short stature, Micromelia, Abnormal enchondral ossification, Short neck, Short thorax, Abn... |
ORPHA:93298 |
Galactokinase Deficiency |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly |
ORPHA:79237 |
Rafiq Syndrome |
|
Joint laxity, Wide nose, Ataxia, Prominent nose, Short neck, Bulbous nose, Flexion contracture, O... |
OMIM:614202 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Diabetes mellitus, Maternal diabetes, Splenomegaly, Insulin resistance, Insulin-res... |
ORPHA:79083 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Persistent open anterior fontanelle, Generalized-onset seizure, Small for gestational age, Ventri... |
OMIM:614866 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Carious teeth, Supernumerary tooth, Hypoplasia of the zygomatic bone, Micrognathia |
ORPHA:3145 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Micrognathia, Multiple prenatal fractures, Cardiomegaly, Short neck, Flexion contract... |
OMIM:616897 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Broad-based gait, Ventricular septal defect, Short hallux, Broad nasal tip, Long fingers, Wide na... |
OMIM:620393 |
14Q11.2 Microdeletion Syndrome |
|
Toe syndactyly, Depressed nasal bridge, Ventricular septal defect, Micrognathia, Toe clinodactyly... |
ORPHA:261120 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Short stature, Iliac crest serration, Micromelia, Short neck, Postnatal growth retardation, Wide ... |
OMIM:613320 |
Schwartz-Jampel Syndrome |
|
Micrognathia, Coxa vara, Pectus carinatum, High palate, Pursed lips, Supernumerary tooth, Abnorma... |
ORPHA:800 |
Mucopolysaccharidosis, Type Iva |
|
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Flar... |
OMIM:253000 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Dental crowding, Compulsive behaviors, Abnormal repetitive mannerisms, Hyperactivity, Broad hallu... |
ORPHA:353281 |
Kuskokwim Syndrome |
|
Abnormal clavicle morphology, Aplasia/Hypoplasia of the patella, Joint stiffness, Abnormal form o... |
ORPHA:1149 |
Weill-Marchesani Syndrome 1 |
|
Lumbar hyperlordosis, Ventricular septal defect, Depressed nasal bridge, Joint stiffness, Hypopla... |
OMIM:277600 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Ataxia, Bifid nasal tip, Wide nasal bridge, Seizure, Retrognathia |
OMIM:300983 |
Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
Myelofibrosis |
|
Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
Ciliary Dyskinesia, Primary, 21 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis |
OMIM:615294 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Micrognathia, Hypoplasia of the maxilla, 2-3 toe cutaneous syndactyly, ... |
OMIM:600920 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Congenital hip dislocation, Irregular vertebral endplates, Posterior scalloping of vertebral bodi... |
OMIM:603546 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
T lymphocytopenia, Failure to thrive, B lymphocytopenia, Failure to thrive secondary to recurrent... |
OMIM:601457 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio... |
OMIM:187601 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Congenital hip dislocation, Ventricular septal defect, Small for gestational age, Rocker bottom f... |
ORPHA:3078 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hallux valgus, Hyperactivity, Prominent nose, Aggressive behavior, Dental malocclusion, Abnormal ... |
OMIM:615541 |
Lymphoproliferative Syndrome 3 |
|
Lymphoproliferative disorder, Hodgkin lymphoma, Lymphadenopathy, Hepatosplenomegaly, Reduced natu... |
OMIM:618261 |
Femoral-Facial Syndrome |
|
Short femur, Short stature, Abnormal sacrum morphology, Abnormal rib morphology, Rib fusion, Coxa... |
ORPHA:1988 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Short stature, Rhizomelia, Delayed epiphyseal ossification, ... |
ORPHA:166016 |
Zimmermann-Laband Syndrome 3 |
|
Broad nasal tip, Aplasia of the distal phalanx of the 5th toe, Kyphosis, Flexion contracture, Wid... |
OMIM:618658 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Clinoda... |
OMIM:167730 |
Mpi-Cdg |
|
Hepatomegaly, Portal hypertension, Hepatic fibrosis, Decreased liver function, Hyperinsulinemic h... |
ORPHA:79319 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Autoimmune hemolytic anemia, Lymphoproliferative disorder, Splenomegaly, Jaundice, Chronic lympha... |
ORPHA:90033 |
Hypophosphatasia |
|
Bowing of the long bones, Short stature, Recurrent fractures, Craniosynostosis, Abnormal rib morp... |
ORPHA:436 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:619466 |
Three M Syndrome 1 |
|
Joint dislocation, Scapular winging, Short stature, Short neck, Pectus excavatum, Postnatal growt... |
OMIM:273750 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:617270 |
Donohue Syndrome |
|
Precocious puberty, Hyperinsulinemia, Cholestasis, Ovarian cyst, Hepatic fibrosis, Pancreatic isl... |
OMIM:246200 |
Dural Sinus Malformation |
|
Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Hydrocephalus, Cerebellar hemorrhage, S... |
ORPHA:97339 |
3M Syndrome |
|
Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Enlarged thorax, ... |
ORPHA:2616 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Generalized myoclonic-aton... |
OMIM:618587 |
Mosaic Trisomy 14 |
|
Anteverted nares, Camptodactyly of finger, Prominent nasal bridge, Micrognathia, Short neck, Wide... |
ORPHA:1703 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Goiter, Wide ante... |
ORPHA:95715 |
Pierpont Syndrome |
|
Short palm, Wide nose, Broad nasal tip, Short neck, Short toe, Broad palm, Short foot, Seizure, D... |
OMIM:602342 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Hypertriglyceridemia, Hypercholesterolemia, Abnormality of the thyroid gla... |
OMIM:182290 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,... |
OMIM:602557 |
Usher Syndrome, Type Ig |
|
Hypoplasia of the nasal bone |
OMIM:606943 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
Autosomal Recessive Robinow Syndrome |
|
Tented upper lip vermilion, Micrognathia, Orofacial cleft, Pectus carinatum, Downturned corners o... |
ORPHA:1507 |
Internal Carotid Absence |
|
Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage |
ORPHA:981 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Small for gestational age, Short stature, Reticulocytopenia, Anemia, Neutropenia, L... |
OMIM:227650 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... |
OMIM:607778 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
B lymphocytopenia |
OMIM:616941 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Short stature, Splenomegaly, Leukocytos... |
OMIM:259720 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Bowing of the long bones, Toe syndactyly, Anteverted nares, Depressed nasal bridge, Craniosynosto... |
ORPHA:171839 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Thin vermilion border, Abnormal lung lobation, Pulmonary hypoplasia, Cleft palate |
ORPHA:2631 |
Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Clinodactyly of the ... |
ORPHA:235 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Lumbar... |
OMIM:250420 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Short stature, Anisocytosis, Anemia of inadequate production, Sple... |
OMIM:615631 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Abnormal clavicle morphology, Large posterior fontanelle, Tarsal synostosis, Aplastic clavicle, K... |
ORPHA:85199 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Increased intervertebral space, Hypoplastic vertebral bodies,... |
OMIM:224300 |
Christianson Syndrome |
|
Mandibular prognathia, Abnormality of the nose, Pectus excavatum, Abnormal thorax morphology, Dys... |
ORPHA:85278 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Depressed nasal bridge, Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermili... |
OMIM:617412 |
Crouzon Syndrome |
|
Choanal atresia, Hypoplasia of the maxilla, Abnormal sacrum morphology, Multiple suture craniosyn... |
ORPHA:207 |
Fibrochondrogenesis 2 |
|
Hypoplastic ischia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplastic pubic bone, ... |
OMIM:614524 |
16P12.1P12.3 Triplication Syndrome |
|
Hallux valgus, Prominent fingertip pads, Decreased response to growth hormone stimulation test, T... |
ORPHA:485405 |
Ataxia-Telangiectasia |
|
Failure to thrive, Short stature, Lymphoma, Hodgkin lymphoma, Acute lymphoblastic leukemia, T lym... |
OMIM:208900 |
Vitamin D-Dependent Rickets, Type 2A |
|
Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Elevated circ... |
OMIM:277440 |
Immunodeficiency 95 |
|
Lymphopenia |
OMIM:619773 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Enlargemen... |
OMIM:600081 |
Pseudoleprechaunism Syndrome, Patterson Type |
|
Diabetes mellitus, Abnormal limb epiphysis morphology, Abnormal odontoid process morphology, Kyph... |
ORPHA:2976 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Transient neutropenia, Aplastic anemia, Leukopenia, Neutropenia, Pancreatic hy... |
ORPHA:811 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Spinal cord compression, Myelopathy |
OMIM:602475 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Short stature, Short neck, Pectus excavatum, Hyperlordosis, Kyphosi... |
ORPHA:2522 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Small hypothenar eminence, Contracture of the proximal interphalangeal joint of the 2nd finger, S... |
ORPHA:2872 |
Cortical Dysplasia, Complex, With Other Brain Malformations 15 |
|
Hypoplasia of the maxilla, Bulbous nose |
OMIM:618737 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased circulating... |
OMIM:615954 |
Hyperprolinemia, Type I |
|
Hyperactivity, Abnormal repetitive mannerisms, Ataxia, Aggressive behavior |
OMIM:239500 |
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Finger syndactyly, Depressed nasal bridge, Anteverted nares, Proximal placement of thumb, Abnorma... |
ORPHA:1825 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Osteopenia, Diabetes mellitus, Increased circulating thyroglobulin level, Depressed nasal bridge,... |
OMIM:610199 |
Mandibulofacial Dysostosis With Alopecia |
|
Bicuspid aortic valve, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla... |
OMIM:616367 |
Wrinkly Skin Syndrome |
|
Osteopenia, Congenital hip dislocation, Coxa vara, Microretrognathia, Scapular winging, Wide ante... |
OMIM:278250 |
Wiedemann-Steiner Syndrome |
|
Micrognathia, Clinodactyly of the 5th finger, Atrial septal defect, Short phalanx of finger, Long... |
OMIM:605130 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypoinsulinemia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decr... |
ORPHA:453533 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... |
OMIM:613424 |
Rabson-Mendenhall Syndrome |
|
Mandibular prognathia, Fasting hyperinsulinemia, Fasting hypoglycemia, Atrial septal defect, Adva... |
ORPHA:769 |
Turnpenny-Fry Syndrome |
|
Mandibular prognathia, Prominent interphalangeal joints, Atrial septal defect, Hypoplasia of the ... |
OMIM:618371 |
Reticular Dysgenesis |
|
Abnormality of neutrophils, Weight loss, Leukopenia, Failure to thrive, Aplasia/Hypoplasia of the... |
ORPHA:33355 |
Prader-Willi Syndrome |
|
Osteopenia, Decreased response to growth hormone stimulation test, Short palm, Syndactyly, Hypogo... |
OMIM:176270 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Inability to walk, Downturned corners of mouth, Self-injurious behavior, Bruxism, ... |
OMIM:618718 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome |
|
Mandibular prognathia, Ataxia, Prominent nose, Wide nasal bridge, Focal impaired awareness seizur... |
ORPHA:137831 |
Potocki-Lupski Syndrome |
|
Mandibular prognathia, Small for gestational age, Micrognathia, Hypothyroidism, Dental malocclusi... |
OMIM:610883 |
Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Hyperextensibility of the finger joints, Anteverted nares, Depressed nasal bridg... |
OMIM:313420 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Thin bony cortex, Bowing of the long bones, Recurrent fractures, Thin ribs, Femoral... |
OMIM:617952 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... |
OMIM:619375 |
Osteopetrosis, Autosomal Recessive 3 |
|
Extramedullary hematopoiesis, Short stature, Anemia, Hepatosplenomegaly |
OMIM:259730 |
X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Splenomegaly, Glucose intolerance |
ORPHA:75563 |
Frontorhiny |
|
Pericallosal lipoma, Lumbar hyperlordosis, Camptodactyly of finger, Hypoplasia of the maxilla, Hy... |
ORPHA:391474 |
Ollier Disease |
|
Chondrosarcoma, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, Lymphangioma, Hemangi... |
ORPHA:296 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Myelodysplasia, Microcytic anemia, Hypersplenism, Splenome... |
ORPHA:846 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Mucolipidosis Iii Gamma |
|
Short stature, Joint stiffness, Flat capital femoral epiphysis, Short neck, Hyperlordosis, Kyphos... |
OMIM:252605 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Broad-based gait, Gait ataxia, Dysphagia, Recurrent hand flapping, Abnormal repetitive mannerisms |
OMIM:617862 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Short 2nd finger, Broad hallux, Ventricular septal defect, Sandal gap, Secundum atrial septal def... |
OMIM:600987 |
Cole-Carpenter Syndrome 2 |
|
Osteopenia, Wide cranial sutures, Short stature, Recurrent fractures, Pectus excavatum, Postnatal... |
OMIM:616294 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Glucose intolerance, Cirrhosis, Hepa... |
OMIM:606069 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Micrognathia, Abnormal form of the vertebral bodies, Clinodactyly of the 5... |
ORPHA:819 |
Immunodeficiency 62 |
|
Increased proportion of transitional B cells, Decreased proportion of memory B cells, B lymphocyt... |
OMIM:618459 |
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
|
Underdeveloped nasal alae, Micrognathia, Wide nasal bridge, Short foot, Joint contracture of the ... |
OMIM:248910 |
Bruck Syndrome |
|
Bowing of the long bones, Short stature, Recurrent fractures, Joint stiffness, Kyphosis, Osteopor... |
ORPHA:2771 |
Bartsocas-Papas Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Short neck, Flexion contracture, Hypoplastic iliac wing,... |
OMIM:263650 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Small for gestational age, Short stature, Reticulocytopenia, Anemia, Bone marrow hy... |
OMIM:227645 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... |
OMIM:619220 |
Lig4 Syndrome |
|
Pancytopenia, Small for gestational age, Myelodysplasia, Acute lymphoblastic leukemia, Failure to... |
OMIM:606593 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Joint stiffness, Elbow d... |
ORPHA:968 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperi... |
ORPHA:79086 |
Gray Platelet Syndrome |
|
Splenomegaly, Myelodysplasia, Thrombocytopenia |
ORPHA:721 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Failure to thrive in infancy, Hepatomegaly |
OMIM:619175 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Incr... |
ORPHA:457395 |
Weill-Marchesani Syndrome 2 |
|
Hypoplasia of the maxilla, Short metatarsal, Broad metacarpals, Short metacarpal, Lumbar hyperlor... |
OMIM:608328 |
Nestor-Guillermo Progeria Syndrome |
|
Limited elbow movement, Micrognathia, Flexion contracture, Rib osteolysis, Microretrognathia, Ost... |
OMIM:614008 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Joint laxity, Mandibular prognathia, Prominent metopic ridge, Prominent fingertip pads, Bicuspid ... |
OMIM:619721 |
Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis |
OMIM:269600 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Squamous cell carcinoma, T lymphocytopenia, Squamous cell carcinoma of the vulva, B lymphocytopen... |
ORPHA:217390 |
Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Chst3-Related Skeletal Dysplasia |
|
Barrel-shaped chest, Short metacarpal, Enlarged joints, Rhizomelia, Kyphoscoliosis, Flexion contr... |
ORPHA:263463 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Testicular neoplasm, Cach... |
ORPHA:83469 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Mandibular prognathia, Hypoplasia of the maxilla, Knee flexion contracture, Atrial septal defect,... |
OMIM:617402 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
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Sacral dimple, Craniosynostosis, Underdeveloped nasal alae, Micrognathia, Short neck, Wide nasal ... |
ORPHA:1516 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarp... |
OMIM:300232 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
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Short stature, Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral... |
ORPHA:2234 |
Craniolenticulosutural Dysplasia |
|
Osteopenia, Joint laxity, Short stature, Delayed closure of the anterior fontanelle, Wide anterio... |
OMIM:607812 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Generalized-onset seizure, Limited elbow movement, Micrognathia, Long nose, Increased interverteb... |
ORPHA:508533 |
3C Syndrome |
|
Adrenal hypoplasia, Micrognathia, Short neck, Hemivertebrae, Abnormality of the fontanelles or cr... |
ORPHA:7 |
Osteogenesis Imperfecta, Type Xxii |
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Bowing of the long bones, Short stature, Recurrent fractures, Multiple prenatal fractures, Multip... |
OMIM:619795 |
Codas Syndrome |
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Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Anteverted nares, Ventri... |
ORPHA:1458 |
Progressive Familial Intrahepatic Cholestasis |
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Hepatomegaly, Short stature, Splenomegaly, Jaundice, Cholestasis, Neoplasm, Failure to thrive |
ORPHA:172 |
Foxg1 Syndrome |
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Inability to walk, Choreoathetosis, Cognitive impairment, Bruxism, Difficulty walking, Impaired s... |
ORPHA:561854 |
Hiatt-Neu-Cooper Neurodevelopmental Syndrome |
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Anteverted nares, Wide nasal bridge, 2-3 toe syndactyly, Seizure, Clinodactyly |
OMIM:619311 |
C Syndrome |
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Micromelia, Micrognathia, Dislocated radial head, Short metacarpal, Anteverted nares, Wide nasal ... |
OMIM:211750 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
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Hyperextensibility of the finger joints, Ataxia, Prominent nasal bridge, Micrognathia, Wide nasal... |
OMIM:618356 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
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Osteopenia, Joint laxity, Short stature, Delayed closure of the anterior fontanelle, Postnatal gr... |
OMIM:225410 |
Trigonocephaly 2 |
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Depressed nasal bridge, Wide nasal bridge, Metopic synostosis |
OMIM:614485 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph... |
OMIM:311300 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Short... |
ORPHA:2311 |
Hereditary Geniospasm |
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Abnormal lower lip morphology, Abnormal social behavior |
ORPHA:53372 |
Impacted Teeth, Multiple |
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Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
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Hepatomegaly, Short stature, Postnatal growth retardation, Splenomegaly, Leukopenia, Lymphopenia |
OMIM:620210 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
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Splenomegaly, Increased B cell count |
OMIM:616452 |
Baller-Gerold Syndrome |
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Limited elbow movement, Micrognathia, Patellar hypoplasia, Choanal stenosis, Spina bifida occulta... |
OMIM:218600 |
Peho-Like Syndrome |
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Bilateral tonic-clonic seizure, Tapered finger, Status epilepticus, Myoclonus, Short nose, Retrog... |
OMIM:617507 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
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Short metacarpal, Hitchhiker thumb, Intervertebral space narrowing, Micrognathia, Capitate-hamate... |
OMIM:614078 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Swelling of proximal interphalangeal joints, Interphalangeal joint contracture of finger, Abnorma... |
ORPHA:69087 |
Pierre Robin Syndrome And Oligodactyly |
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Hand oligodactyly, Micrognathia |
OMIM:172880 |
Fibrous Dysplasia Of Bone |
|
Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Thyroid carcinoma, Patchy reduct... |
ORPHA:249 |
Cowden Syndrome 5 |
|
Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Thyroiditis, Palmoplantar hyp... |
OMIM:615108 |
Congenital Lobar Emphysema |
|
Emphysema |
ORPHA:1928 |
Intellectual Disability-Strabismus Syndrome |
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Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, Micrognat... |
ORPHA:363528 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Osteopenia, Micrognathia, Short neck, Short metatarsal, Clinodactyly of the 5th finger, Short pha... |
OMIM:266920 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Lymphoma, Lymphadenopa... |
ORPHA:33226 |
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Failure to thrive, Depressed nasal bridge, Wide nasal bridge, Palmoplantar keratoderma |
OMIM:609528 |
Diabetes Insipidus, Neurohypophyseal |
|
Osteopenia, Wide nose, Decreased circulating osteocalcin level, Short nose, Central diabetes insi... |
OMIM:125700 |
Spastic Paraplegia 47, Autosomal Recessive |
|
Waddling gait, Overweight, Inability to walk, Bulbous nose, Flexion contracture, Wide nasal bridg... |
OMIM:614066 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Meier-Gorlin Syndrome 7 |
|
Joint laxity, 2-4 finger syndactyly, Ventricular septal defect, Choanal atresia, Craniosynostosis... |
OMIM:617063 |
Spinal Dysplasia, Anhalt Type |
|
Osteoarthritis of the small joints of the hand, Short stature, Thoracolumbar scoliosis, Coxa vara... |
OMIM:601344 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Anemia, Pallor, Thrombocytopenia |
ORPHA:517 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing,... |
OMIM:618019 |
Restrictive Dermopathy 1 |
|
Adrenal hypoplasia, Micrognathia, Flexion contracture, Overtubulated long bones, Atrial septal de... |
OMIM:275210 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Narrow nasal bridge, Anteverted nares, Delayed cranial suture closure, Overlapping toe, Inability... |
OMIM:619383 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Intrauterine growth retardation, Thrombocytopenia |
OMIM:615010 |
Schnitzler Syndrome |
|
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphoma, Lymphadenopathy, Anemia |
ORPHA:37748 |
Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Micromelia, Beaded ribs, Bowing of the legs, Abnormal han... |
OMIM:200600 |
Zaki Syndrome |
|
Wide nose, Toe syndactyly, Anteverted nares, Sacral dimple, Congenital diaphragmatic hernia, Micr... |
OMIM:619648 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Diabetes mellitus, Splenomegaly, Insulin resistance, Polycystic ovaries, Hepatic st... |
ORPHA:2348 |
Aneurysm, Intracranial Berry, 1 |
|
Intracranial hemorrhage, Dilatation of the cerebral artery |
OMIM:105800 |
Atelis Syndrome 2 |
|
Sacral dimple, Single transverse palmar crease, Micrognathia, Prominent nose, Kyphosis, Bulbous n... |
OMIM:620185 |
Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Abnormal pl... |
OMIM:273800 |
Congenital Velopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Abnormal palate morphology |
ORPHA:2291 |
Schinzel-Giedion Syndrome |
|
Micrognathia, Short neck, Tibial bowing, Choanal stenosis, Streak ovary, Wide anterior fontanel, ... |
ORPHA:798 |
Aneurysm, Intracranial Berry, 2 |
|
Subarachnoid hemorrhage, Cerebral berry aneurysm |
OMIM:608542 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Skraban-Deardorff Syndrome |
|
Broad-based gait, Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Micrognath... |
OMIM:617616 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Bowing of the long bones, Depressed nasal bridge, Micromelia, Coxa val... |
ORPHA:166272 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Inguinal hernia, Hypoplasia of the maxilla, Wide nasal bridge, Abnormal he... |
OMIM:601499 |
8P23.1 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Proximal placement of thumb, Short neck, Atriovent... |
ORPHA:251071 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Micrognathia, Tetralogy of F... |
OMIM:179613 |
Arthrogryposis, Distal, Type 2A |
|
Mandibular prognathia, Short neck, Knee flexion contracture, Hernia, Spina bifida occulta, Wrist ... |
OMIM:193700 |
Splenoportal Vascular Anomalies |
|
Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis |
OMIM:271500 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Joint laxity, Syndactyly, Inguinal hernia, Brachydactyly, Lumbar hyperlordosis, Ovoid vertebral b... |
OMIM:619451 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Anteverted nares, Bilateral tonic-clonic seizure, Micrognathia, Precocious puberty, Delayed erupt... |
OMIM:619356 |
Kenny-Caffey Syndrome, Type 1 |
|
Long clavicles, Proportionate short stature, Delayed closure of the anterior fontanelle, Thin cla... |
OMIM:244460 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Postnatal growth retardation, Abnormal thorax morphology, Metaphyseal widening, Large fontanelles... |
ORPHA:73230 |
Cerebral Cavernous Malformations |
|
Intracranial hemorrhage, Cerebral cavernous malformation |
OMIM:116860 |
Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Large for gestational age, Short neck, Metaphyseal widening,... |
OMIM:239850 |
Greig Cephalopolysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Congenital diaphragmatic hernia, Cranios... |
ORPHA:380 |
Autosomal Dominant Robinow Syndrome |
|
Micrognathia, High, narrow palate, Abnormality of the gingiva, Coxa vara, Pectus carinatum, Downt... |
ORPHA:3107 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Mandibular prognathia, Syndactyly, Ataxia, Ventricular septal defect, Depressed nasal bridge, Abn... |
ORPHA:369891 |
Diaphanospondylodysostosis |
|
Missing ribs, Short neck, Short thorax, Enlarged thorax, Narrow pelvis bone, Absent or minimally ... |
ORPHA:66637 |
Coffin-Siris Syndrome 6 |
|
Wormian bones, Depressed nasal bridge, Kyphoscoliosis, Micrognathia, Broad nasal tip, Seizure, At... |
OMIM:617808 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Severe short stature, Bowed humerus, Anterior rib cupping, Lumbar hyperlor... |
OMIM:184253 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Growth delay, B lymphoc... |
OMIM:301078 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... |
OMIM:615559 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Abnormal metatarsal morphology, Delayed epiphyseal ossification, Generalized joint laxity, Multip... |
ORPHA:93360 |
Rhabdoid Tumor |
|
Renal neoplasm, Weight loss, Neoplasm of the central nervous system, Anemia, Lymphadenopathy, Neo... |
ORPHA:69077 |
Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Short stature, Kyphoscoliosis, Irregular femoral epiphysis, Vertebral wedging, Genu valgum, Bell-... |
OMIM:255710 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Lymphadenopathy, Enlarged mesenteric... |
OMIM:209950 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Omphalocele, Long toe, Ventricular septal defect, Anteverted nares, Parachute mitral valve, Promi... |
OMIM:618316 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Seizure, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
3Q13 Microdeletion Syndrome |
|
Anteverted nares, Abnormality of the hand, Joint stiffness, Short neck, Wide nasal bridge, Abnorm... |
ORPHA:1621 |
Harel-Yoon Syndrome |
|
Mandibular prognathia, Ataxia, Micrognathia, Inability to walk, Generalized non-motor (absence) s... |
OMIM:617183 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, B-cell lym... |
OMIM:613011 |
Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... |
ORPHA:93320 |
Maturity-Onset Diabetes Of The Young, Type 14 |
|
Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:616511 |
Cowden Syndrome 6 |
|
Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Thyroiditis, Palmoplantar hyp... |
OMIM:615109 |
Temple-Baraitser Syndrome |
|
Wide nose, Depressed nasal bridge, Broad hallux, Proximal placement of thumb, Adducted thumb, Sei... |
OMIM:611816 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Absent circulating B cells, Abnormal T cell morphology |
OMIM:613500 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Singl... |
OMIM:300998 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Vertebral segmentation defect, Abnormal rib morphology, Short stature, Short neck |
ORPHA:2578 |
Distal Duplication 18Q |
|
Anteverted nares, Camptodactyly of finger, Choanal atresia, Micrognathia, Carious teeth, Prominen... |
ORPHA:1716 |
Short Syndrome |
|
Joint laxity, Delayed eruption of teeth, Inguinal hernia, Enlarged epiphyses, Small for gestation... |
OMIM:269880 |
Chromosome 14Q32 Duplication Syndrome, 700-Kb |
|
Acute myeloid leukemia, Chronic myelomonocytic leukemia |
OMIM:616604 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Joint laxity, Prominent fingertip pads, Ataxia, Arachnodactyly, Micrognathia, Underdeveloped nasa... |
OMIM:300986 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Ataxia, Prominent nasal bridge, Inability to walk, Retrognathia, Wide nasal bridge, Seizure, Atte... |
OMIM:619556 |
Becker Nevus Syndrome |
|
Micromelia, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Pectus carinatum, ... |
ORPHA:64755 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Hallux valgus, Scapular winging, Toe syndactyly, Anteverted nares, Camptod... |
ORPHA:1327 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... |
OMIM:607594 |
Chromosome 15Q11.2 Deletion Syndrome |
|
Smooth philtrum, Irregular dentition, Swan neck-like deformities of the fingers, Ataxia, Arachnod... |
OMIM:615656 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Postnatal growth retardation, Intrauterine growth retardation, Pancytopenia |
OMIM:600546 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Mandibular prognathia, Anteverted nares, Abnormal dental enamel morphology, Depressed nasal bridg... |
ORPHA:2180 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Neonatal death, Death in infancy, Pulmonary hypoplasia, Death in childhood |
OMIM:614096 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Syndactyly, Ataxia, Arachnodactyly, Pectus excavatum, Gait ataxia, Impaired tactile sensation, Th... |
OMIM:619092 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Reactive hy... |
OMIM:600955 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... |
OMIM:602450 |
Oculodentodigital Dysplasia |
|
Mandibular prognathia, Micrognathia, Abnormal form of the vertebral bodies, Clinodactyly of the 5... |
ORPHA:2710 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Dental crowding, Micrognathia, Oligodontia, High palate, Short philtrum, Compulsive behaviors, Cl... |
OMIM:617061 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Wide nose, Prominent nasal bridge, Hypoplasia of the maxilla, Carious ... |
ORPHA:50814 |
X-Linked Acrogigantism |
|
Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Diabetes insipidus, Elevat... |
ORPHA:300373 |
Intellectual Developmental Disorder, Autosomal Recessive 69 |
|
Ataxia, Hyperplasia of the maxilla |
OMIM:618383 |
Barth Syndrome |
|
Abnormality of neutrophils |
ORPHA:111 |
Cooper-Jabs Syndrome |
|
Short stature, Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal rib m... |
ORPHA:1488 |
Maxillonasal Dysplasia, Binder Type |
|
Depressed nasal bridge, Vertebral clefting, Dental malocclusion, Short columella, Short nose, Pat... |
OMIM:155050 |
Lessel-Kreienkamp Syndrome |
|
Wide cranial sutures, Bicuspid aortic valve, Dental malocclusion, Wide nasal bridge, Seizure, Cli... |
OMIM:619149 |
19P13.12 Microdeletion Syndrome |
|
Short neck, Short palm, Clinodactyly of the 5th finger, Atrial septal defect, Hypothyroidism, Fin... |
ORPHA:254346 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Growth delay |
ORPHA:79238 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Death in infancy, Bifid uvula, Cleft palate |
OMIM:258320 |
Tatton-Brown-Rahman Syndrome |
|
Proportionate short stature, Patent ductus arteriosus, Obesity, Myeloid leukemia, Neuroendocrine ... |
ORPHA:404443 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Ventricular septal defect, Arachnodactyly, Congenital diaphragmatic hernia, Narrow nose, Carious ... |
OMIM:617602 |
Classic Mycosis Fungoides |
|
Hepatomegaly, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm of the... |
ORPHA:2584 |
Meier-Gorlin Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Flat glenoid fossa, Hemivertebrae, ... |
OMIM:224690 |
Zttk Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Craniosynostosis, Hypoplasia of the maxilla, K... |
OMIM:617140 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil chemotaxis, Lymphadenitis, Neutrop... |
OMIM:618986 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Mandibular prognathia, Tented upper lip vermilion, Long nose, Self-biting, Downturned corners of ... |
OMIM:300912 |
Pallister-Hall Syndrome |
|
Adrenal hypoplasia, Large for gestational age, Gonadotropin deficiency, Depressed nasal ridge, He... |
ORPHA:672 |
Nablus Mask-Like Facial Syndrome |
|
Anteverted nares, Depressed nasal bridge, Craniosynostosis, Single transverse palmar crease, Hypo... |
OMIM:608156 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Anteverted nares, Ulnar deviation of the wrist, Micrognathia, Clinodactyly, Unilambdoid synostosi... |
OMIM:618577 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Mandibular prognathia, Prominent nose, Wide nasal bridge, Seizure, Brachydactyly |
OMIM:617169 |
Toriello-Carey Syndrome |
|
Micrognathia, Short neck, Wide anterior fontanel, Clinodactyly, Cardiomyopathy, Seizure, Abnormal... |
ORPHA:3338 |
Hsd10 Disease |
|
Short attention span, Ataxia, Choreoathetosis, Gait disturbance, Dysphagia, Abnormal social behavior |
ORPHA:391417 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h... |
ORPHA:3344 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Depressed nasal bridge, Anteverted nares, Sandal gap, Micrognathia, Postaxial poly... |
OMIM:615761 |
Shukla-Vernon Syndrome |
|
Broad-based gait, Impulsivity, Aggressive behavior, Tapered finger, Long fingers, Pectus excavatu... |
OMIM:301029 |
Fetal Trimethadione Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Micrognathia, Transposition of the great arter... |
ORPHA:1913 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Failure to thrive, Short stature, Abnormality of the tonsi... |
ORPHA:229717 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Sacral dimple, Ventricular septal defect, Micrognathia, Scoliosis, Atrial septal defect |
OMIM:608227 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Broad-based gait, Anteverted nares, Precocious puberty, Bulbous nose, Wide nasal bridge, Seizure,... |
OMIM:300958 |
3Mc Syndrome 1 |
|
Sacral dimple, Single interphalangeal crease of fifth finger, Postnatal growth retardation, Wide ... |
OMIM:257920 |
Ghosal Hematodiaphyseal Dysplasia |
|
Splenomegaly, Anemia |
ORPHA:1802 |
Nager Syndrome |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of the maxilla, Abnormal nasal morpholo... |
ORPHA:245 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Dental crowding, Micrognathia, High palate, Compulsive behaviors, Abnormal repetitive mannerisms,... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Dental crowding, Micrognathia, High palate, Compulsive behaviors, Abnormal repetitive mannerisms,... |
ORPHA:353277 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Cutaneous finger syndactyly, High palate, Bifid... |
OMIM:211380 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Anteverted nares, Ventricular septal defect, Rocker bottom foot, Delayed eruption of permanent te... |
OMIM:618506 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Short stature, Hyperechogenic pancreas, Pa... |
OMIM:617052 |
Angelman Syndrome |
|
Mandibular prognathia, Broad-based gait, Ataxia, Hypoplasia of the maxilla, Obesity, Seizure, Pro... |
OMIM:105830 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Mandibular prognathia, Depressed nasal bridge, Prominent nasal bridge, Kyphoscoliosis, Cardiomega... |
ORPHA:324410 |
Recon Progeroid Syndrome |
|
Joint laxity, Prominence of the premaxilla, Anteverted nares, Prominent nasal bridge, Narrow nasa... |
OMIM:620370 |
Mpdu1-Cdg |
|
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te... |
ORPHA:79323 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Pulmonary hypoplasia, Absent uvula |
OMIM:616531 |
Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Rib fusion, Unilateral brachydactyly, Hemivertebrae, Short r... |
OMIM:173800 |
Brunet-Wagner Neurodevelopmental Syndrome |
|
Self-injurious behavior, Thick vermilion border, Abnormal repetitive mannerisms, Wide nasal bridge |
OMIM:619690 |
Arthrogryposis, Distal, Type 2B1 |
|
Mandibular prognathia, Ulnar deviation of the wrist, Camptodactyly of finger, Rocker bottom foot,... |
OMIM:601680 |
Gorlin-Chaudhry-Moss Syndrome |
|
Hypoplasia of the maxilla, Aplasia/Hypoplasia of the nasal bone, Abnormal metacarpal morphology, ... |
ORPHA:2095 |
Achondrogenesis Type 1A |
|
Multiple rib fractures, Severe short stature, Recurrent fractures, Micromelia, Abnormal enchondra... |
ORPHA:93299 |
Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, T lymphocytopenia, B lymphocytopenia, Failure to thrive, Reduced natural killer... |
OMIM:618108 |
Myhre Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Inguinal hernia, Brachydactyly, Femoral hernia,... |
ORPHA:2588 |
Cornelia De Lange Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Micromelia, Proximal placement of thumb, Short nec... |
ORPHA:199 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Mandibular prognathia, Short attention span, Hyperactivity, Aggressive behavior, Shyness, Depress... |
ORPHA:449291 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Lymphoproliferative disorder, Splenomegaly, Lymphoma... |
OMIM:615122 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Wide anterior fontanel |
OMIM:618240 |
Polycythemia Vera |
|
Hepatomegaly, Myelodysplasia, Portal hypertension, Portal vein thrombosis, Splenomegaly, Weight l... |
ORPHA:729 |
Gapo Syndrome |
|
Anteverted nares, Depressed nasal bridge, Delayed closure of the anterior fontanelle, Micrognathi... |
OMIM:230740 |
Bone Dysplasia, Lethal Holmgren Type |
|
Metaphyseal dysplasia, Anteverted nares, Rhizomelia, Micromelia, Abnormality of the hand, Abnorma... |
ORPHA:1842 |
Stickler Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Depressed nasal ridge, Abnormal form of ... |
ORPHA:828 |
Floating-Harbor Syndrome |
|
Short neck, Hypoplasia of the maxilla, Long nose, Humeral pseudarthrosis, Atrial septal defect, M... |
ORPHA:2044 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... |
ORPHA:52056 |
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
|
Hip contracture, Inguinal hernia, Anteverted nares, Micrognathia, Metatarsus adductus, Short neck... |
OMIM:616266 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Flexion contracture, Osteolysis involving bones of the upper limbs, Hypoplasia of tee... |
ORPHA:88630 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Ataxia, Postaxial polydactyly, Abnormal eating behavior, Abnormal tongue physiology, Wide mouth, ... |
ORPHA:544254 |
Noonan Syndrome 6 |
|
Growth delay, Juvenile myelomonocytic leukemia, Short stature |
OMIM:613224 |
Cowden Syndrome 1 |
|
Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Thyroiditis, Palmoplantar hyp... |
OMIM:158350 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Ventricular septal defect, Hypoplastic right heart, Depressed nasal bridge, Micrognathia, Overlap... |
OMIM:618142 |
Robin Sequence-Oligodactyly Syndrome |
|
Abnormal morphology of ulna, Micrognathia, Hand oligodactyly, Abnormal form of the vertebral bodi... |
ORPHA:3104 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocyt... |
OMIM:226990 |
Freeman-Sheldon Syndrome |
|
Camptodactyly of finger, Joint stiffness, Underdeveloped nasal alae, Depressed nasal ridge, Wide ... |
ORPHA:2053 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Short stature, Splenomegaly, Hepatic fibrosis, Failure to thrive, Hepatic steatosis |
OMIM:614480 |
Sweet Syndrome |
|
Acute myeloid leukemia, Neutrophilia, Hematological neoplasm, Leukocytosis, Breast carcinoma, Chr... |
ORPHA:3243 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Frontotemporal dementia, Disinhibition, Dysphagia, Emotional lability, Abnormal repetitive manner... |
OMIM:612069 |
Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndact... |
ORPHA:87 |
Bone Marrow Failure Syndrome 6 |
|
Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean corpuscular vo... |
OMIM:618849 |
Crouzon Syndrome |
|
Mandibular prognathia, Abnormality of the cervical spine, Sagittal craniosynostosis, Hypoplasia o... |
OMIM:123500 |
Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Bicuspid aortic valve, Micrognathia, Atrial septal defect, Neonatal death,... |
OMIM:612289 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Block vertebrae, Short stature, Abnormal odontoid process morphology, Missing r... |
OMIM:613686 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Short philtrum, Low frustration tolerance, Widely spaced teeth, Clinodactyly of the 5th finger, M... |
OMIM:619293 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Absent circulating B cells |
OMIM:619707 |
Oslam Syndrome |
|
Increased mean corpuscular volume, Short stature, Abnormality of neutrophils, Osteosarcoma |
ORPHA:2760 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Congenital diaphragmatic hernia, Atrial septal defect, Hyperglycemia, Patent foramen ovale, Hypop... |
OMIM:600001 |
Microphthalmia With Limb Anomalies |
|
Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2n... |
OMIM:206920 |
Neurocutaneous Melanocytosis |
|
Intracranial hemorrhage, Meningocele, Syringomyelia |
ORPHA:2481 |
Joubert Syndrome 15 |
|
Exencephaly |
OMIM:614464 |
Tonne-Kalscheuer Syndrome |
|
Broad-based gait, Prominent nasal bridge, Congenital diaphragmatic hernia, Micrognathia, Prominen... |
OMIM:300978 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Micrognathia, Advanced eruption of teeth, Finger syndactyly, Antever... |
ORPHA:818 |
Frontometaphyseal Dysplasia 1 |
|
Limited elbow movement, Absent frontal sinuses, Knee flexion contracture, Increased density of lo... |
OMIM:305620 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Reduced subcutaneous adipose tissue, Inguinal hernia, Febrile seizure (within the age range of 3 ... |
OMIM:613026 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Mandibular prognathia, Hyperactivity, Sandal gap, Aggressive behavior, Unsteady gait, Narrow pala... |
OMIM:615516 |
Suleiman-El-Hattab Syndrome |
|
Microretrognathia, Inguinal hernia, Ventricular septal defect, Single transverse palmar crease, W... |
OMIM:618950 |
Chung-Jansen Syndrome |
|
Anteverted nares, Micrognathia, Tapered finger, Obesity, Hip dysplasia, Attention deficit hyperac... |
OMIM:617991 |
Glucocorticoid Deficiency 2 |
|
Decreased circulating cortisol level, Increased circulating ACTH level, Recurrent hypoglycemia |
OMIM:607398 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Ventricular septal defect, Hypoplasia of the maxilla, Wide nasal bridge, 2-3 toe syndactyly, Palm... |
OMIM:106260 |
Pyoderma Gangrenosum |
|
Myeloid leukemia, Myelodysplasia |
ORPHA:48104 |
Leukemia, Chronic Lymphocytic |
|
Chronic lymphatic leukemia |
OMIM:151400 |
Leukemia, Chronic Lymphocytic, Susceptibility To, 2 |
|
Chronic lymphatic leukemia |
OMIM:109543 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:610539 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Hip contracture, Anteverted nares, Prominent nasal bridge, Cachexia, Micrognathia, Arachnodactyly... |
ORPHA:371364 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia, Squamous cell carcinoma of the skin, Verrucae |
OMIM:618309 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Microretrognathia, Wide nose, Rocker bottom foot, Wide nasal bridge, Seizure, Atrial septal defec... |
ORPHA:89844 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Short neck, Femoral bowing, Hypoplastic iliac wing, Short tibia, Ulnar bowing, Corona... |
OMIM:620076 |
Bifid Uvula |
|
Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Short foot, Self-injurious behavior, Abnormal repetitive mannerisms, Small hand |
OMIM:615282 |
48,Xxyy Syndrome |
|
Delayed eruption of teeth, Broad jaw, Ataxia, Abnormal dental enamel morphology, Carious teeth, O... |
ORPHA:10 |
Parietal Foramina With Cleidocranial Dysplasia |
|
Short clavicles, Widely patent fontanelles and sutures |
OMIM:168550 |
Miller-Dieker Syndrome |
|
Omphalocele, Sacral dimple, Anteverted nares, Ataxia, Seizure, Clinodactyly of the 5th finger, Sh... |
ORPHA:531 |
Spondylospinal Thoracic Dysostosis |
|
Hypoplasia of the maxilla, Arthrogryposis multiplex congenita, Micrognathia |
OMIM:601809 |
Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Short fourth metatarsal, Short metacarpal, Anteverted nares, Depressed nasal bridg... |
OMIM:600430 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors, ... |
ORPHA:101039 |
Leukodystrophy, Hypomyelinating, 24 |
|
Severe short stature, B lymphocytopenia |
OMIM:619851 |
Combined Oxidative Phosphorylation Deficiency 17 |
|
Postnatal growth retardation, Death in infancy, Intrauterine growth retardation, Death in childhood |
OMIM:615440 |
Distal Deletion 10Q |
|
Single transverse palmar crease, Micrognathia, Prominent nose, 2-3 toe cutaneous syndactyly, Clin... |
ORPHA:96148 |
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Camptodactyly of finger, Micrognathia, Seizure, Intrauterine growth retardation, Short nose |
ORPHA:1495 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Abnormal erythrocyte enzyme level, Myeloproliferative disorder |
ORPHA:100924 |
Bangstad Syndrome |
|
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Goiter |
OMIM:210740 |
Hall-Riggs Syndrome |
|
Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Prominent nose, J... |
ORPHA:2107 |
Warburg Micro Syndrome 1 |
|
Anteverted nares, Overlapping toe, Kyphoscoliosis, Micrognathia, Osteoporosis, Wide nasal bridge,... |
OMIM:600118 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Failure to thrive, Inguinal hernia, Arachnodactyly, Single transverse palmar crease, Overlapping ... |
ORPHA:83617 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Acholic stools, Hyperglycemi... |
OMIM:615710 |
Noonan Syndrome 13 |
|
Joint laxity, Prominent metopic ridge, Generalized-onset seizure, Anteverted nares, Overlapping t... |
OMIM:619087 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Confusion, Increased circulating free fatty acid level, Dilated cardiomyopathy, Fasting hyperinsu... |
ORPHA:71212 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Patent ductus arter... |
ORPHA:60041 |
Mucolipidosis Iii Alpha/Beta |
|
Soft tissue swelling of interphalangeal joints, Short stature, Craniosynostosis, Irregular carpal... |
OMIM:252600 |
Radio-Tartaglia Syndrome |
|
Ataxia, Ventricular septal defect, Anteverted nares, Micrognathia, Precocious puberty, Depressed ... |
OMIM:619312 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thorax, Short long bone, Thoracic dyspl... |
OMIM:615633 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla, Anterior wedging of T12, Long fibula, Short palm, Short phalanx of fin... |
OMIM:300106 |
Larsen-Like Syndrome, Lethal Type |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:245650 |
Congenital Disorder Of Glycosylation, Type If |
|
Ataxia, Wide anterior fontanel, Flexion contracture, Seizure, Failure to thrive |
OMIM:609180 |
Rothmund-Thomson Syndrome Type 1 |
|
Aplastic anemia, Small for gestational age, Myelodysplasia, Short stature, Squamous cell carcinom... |
ORPHA:221008 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Micrognathia, Fasting hyperinsulinemia, Reduced bone mineral density, Fin... |
ORPHA:79474 |
Mulibrey Nanism |
|
Wide nose, Depressed nasal bridge, Single transverse palmar crease, Cardiomegaly, Absent frontal ... |
OMIM:253250 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Anemia |
OMIM:613101 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Micrognathia, Abnormal nasal... |
ORPHA:404440 |
Goldberg-Shprintzen Syndrome |
|
Ventricular septal defect, Prominent nasal bridge, Tapered finger, Hypoplasia of the maxilla, Sho... |
OMIM:609460 |
Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Weight loss, Anemia, Le... |
ORPHA:507 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Ataxia, Premature closure of fontanelles, Split hand, Mental deterioration, Wide nasal bridge, My... |
OMIM:610127 |
Tarp Syndrome |
|
Single transverse palmar crease, Micrognathia, Atrial septal defect, Neonatal death, Anteverted n... |
OMIM:311900 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Irritability, Abnormal repetitive mannerisms, Difficulty walking, Broad nasal tip |
OMIM:617393 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Thoracic scoliosis, Micromelia, Generalized joint laxity, Tibial bowing, Narrow chest... |
OMIM:613848 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Micrognathia, Short neck, Short palm, Duplication of the distal phalanx of hand, Dislocated radia... |
OMIM:180700 |
Developmental And Epileptic Encephalopathy 58 |
|
Inability to walk, Abnormal repetitive mannerisms |
OMIM:617830 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Joint laxity, Diabetes mellitus, Bicuspid aortic valve, Ventricular septal defect, Anteverted nar... |
ORPHA:500159 |
Intellectual Developmental Disorder, Autosomal Recessive 5 |
|
Broad-based gait, Small for gestational age, Elevated circulating creatine kinase concentration, ... |
OMIM:611091 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Bowing of the long bones, Depressed nasal bridge, Sandal gap, Pro... |
ORPHA:90650 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Anteverted nares, Arachnodactyly, Micromelia, Sandal gap, Obesity, Genu valgum, Joint hyperflexib... |
ORPHA:1035 |
14Q11.2 Microduplication Syndrome |
|
Depressed nasal bridge, Micrognathia, Obesity, Wide nasal bridge, Seizure, Attention deficit hype... |
ORPHA:261229 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Micronodular cirrhosi... |
ORPHA:139507 |
Autism, Susceptibility To, 3 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... |
OMIM:608049 |
Galloway-Mowat Syndrome 6 |
|
Anteverted nares, Downturned corners of mouth, Wide mouth, High palate, Clinodactyly of the 5th f... |
OMIM:618347 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Mandibular prognathia, Short humerus, Wide nose, Short metacarpal, Rhizomelia, Hyperlordosis, Dep... |
ORPHA:2831 |
Duplication Of The Pituitary Gland |
|
Thoracic scoliosis, Supernumerary tooth, Abnormality of the tongue, Cleft palate, Wide mouth, Ret... |
ORPHA:314621 |
Sandhoff Disease |
|
Splenomegaly, Failure to thrive, Hepatomegaly |
ORPHA:796 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Joint laxity, Inguinal hernia, Persistent open anterior fontanelle, Arachnodactyly, Mitral valve ... |
OMIM:615539 |
Mucopolysaccharidosis, Type Ivb |
|
Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of rib cage, Joint laxity,... |
OMIM:253010 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Primrose Syndrome |
|
Hypoplasia of the maxilla, Flexion contracture, Knee flexion contracture, Reduced bone mineral de... |
OMIM:259050 |
Chromosome 6Q11-Q14 Deletion Syndrome |
|
Joint laxity, Inguinal hernia, Sacral dimple, Prominent nasal bridge, Single transverse palmar cr... |
OMIM:613544 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Hematological neoplasm, Splenomegaly, Lymphadenopathy, Increased proportion of CD25... |
ORPHA:98848 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Thoracic kyphoscoliosis, Exaggerated median tongue furrow, Dental crowding, Aggressive behavior, ... |
ORPHA:313892 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Tented upper lip vermilion, 2-3 toe cutaneous syndactyly, Chorea, High palate, Widely spaced teet... |
OMIM:300260 |
Transcobalamin Deficiency |
|
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Oligodactyly, Humeroradial synostosis, Arachnodactyly, Craniosynostosis |
OMIM:614416 |
Orofaciodigital Syndrome I |
|
Lobulated tongue, High palate, Microretrognathia, Syndactyly, Hamartoma of tongue, Cleft upper li... |
OMIM:311200 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Mandibular prognathia, Cystic angiomatosis of bone, Reduced subcutaneous adipose tissue, Hypertri... |
OMIM:269700 |
Bloom Syndrome |
|
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Malignant genitourinary tra... |
ORPHA:125 |
Gaucher Disease, Type Iii |
|
Hepatomegaly, Pancytopenia, Short stature, Splenomegaly, Decreased body weight, Thrombocytopenia |
OMIM:231000 |
Costello Syndrome |
|
Hyperextensibility of the finger joints, Atrial septal defect, Ventricular septal defect, Hypogly... |
OMIM:218040 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Thin upper lip vermilion, Hyperactivity, Aggressive behavior, Bulbous nose, Wide nasal bridge, At... |
OMIM:620292 |
Immunodeficiency 70 |
|
Decreased proportion of CD4-positive helper T cells, B lymphocytopenia, Verrucae |
OMIM:618969 |
Desbuquois Dysplasia 2 |
|
Short neck, Metaphyseal widening, Pectus carinatum, Knee dislocation, Narrow chest, Short phalanx... |
OMIM:615777 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Osteopenia, Mandibular prognathia, Congenital hip dislocation, Decreased response to growth hormo... |
OMIM:616007 |
Marshall Syndrome |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis... |
ORPHA:560 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Craniosynostosis, Micrognathia, Micromelia, Split hand, Intrauterine growth re... |
ORPHA:2145 |
Potocki-Shaffer Syndrome |
|
2-5 finger cutaneous syndactyly, Single transverse palmar crease, Underdeveloped nasal alae, Wide... |
OMIM:601224 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Cri-Du-Chat Syndrome |
|
Short metatarsal, Orofacial cleft, Downturned corners of mouth, High palate, Short philtrum, Abno... |
OMIM:123450 |
Phaver Syndrome |
|
Broad hallux phalanx, Camptodactyly of finger, Joint stiffness, Short thumb, Abnormal rib morphol... |
ORPHA:2876 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Mandibular prognathia, Micrognathia, Gait ataxia, Seizure, Hip dysplasia, Scoliosis, Delayed pube... |
ORPHA:496790 |
Kleine-Levin Syndrome |
|
Confusion, Parageusia, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, H... |
ORPHA:33543 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Slender nose, Micrognathia, Seizure, Scoliosis, Intrauterine growth retardation, Joint contractur... |
OMIM:615419 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hyperactivity, Abnormal repetitive mannerisms, Broad-based gait, Aggressive behavior |
OMIM:619470 |
Acromicric Dysplasia |
|
Short metacarpal, Anteverted nares, Ovoid vertebral bodies, Joint stiffness, Bulbous nose, Small ... |
ORPHA:969 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the... |
ORPHA:199306 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Short stature, Cardiac arrest, Megaloblastic anemia, Congestive heart failure, Paroxysmal atrial ... |
ORPHA:49827 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... |
OMIM:615387 |
Chromosome 5Q12 Deletion Syndrome |
|
Long toe, Sacral dimple, Ventricular septal defect, Micrognathia, Prominent nose, Long fingers, S... |
OMIM:615668 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Micromelia, Prominent nose, Precocious puberty, Underdeveloped nasal alae, Seizure, Wide nasal br... |
ORPHA:2637 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Camptodactyly of finger, Cachexia, Micrognathia, Wrist swelling, Limitation of joint mobility, Os... |
ORPHA:2774 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphoma, Burkitt... |
OMIM:308240 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteopenia, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentrati... |
OMIM:613327 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Short stature, Metatarsus valgus, Aplasia/Hypoplasia of toe... |
ORPHA:3082 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Failure to thrive, Short stature, Splenomegaly, Anemia, Reduced natural killer cell... |
OMIM:616050 |
Rothmund-Thomson Syndrome |
|
Aplastic anemia, Small for gestational age, Myelodysplasia, Short stature, Squamous cell carcinom... |
ORPHA:2909 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia |
OMIM:615085 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Wide-cu... |
OMIM:187600 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Supernumerary tooth, Recurrent upper respiratory tract infections, High palate, Persistence of pr... |
OMIM:619752 |
Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Hepatomegaly |
ORPHA:139406 |
Distal 7Q11.23 Microdeletion Syndrome |
|
Atrial septal defect, Seizure, Attention deficit hyperactivity disorder |
ORPHA:254351 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Enlargemen... |
OMIM:241530 |
Bloom Syndrome |
|
Small for gestational age, Elevated hemoglobin A1c, Postnatal growth retardation, Lymphoma, Squam... |
OMIM:210900 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Ketotic hypoglycemia, Elevated hepatic transaminase, Glycosuria |
ORPHA:2089 |
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures |
|
Spastic ataxia, Abnormal repetitive mannerisms, Widely spaced teeth, Attention deficit hyperactiv... |
OMIM:618906 |
Postaxial Tetramelic Oligodactyly |
|
Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology |
ORPHA:2730 |
X-Linked Hypophosphatemia |
|
Beaded ribs, Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles,... |
ORPHA:89936 |
Rothmund-Thomson Syndrome Type 2 |
|
Aplastic anemia, Small for gestational age, Myelodysplasia, Short stature, Lymphoma, Squamous cel... |
ORPHA:221016 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Large posterior fontanelle, Short neck, Delayed epiphyseal ossification, Long fibula, Narrow ches... |
OMIM:250220 |
17Q23.1Q23.2 Microdeletion Syndrome |
|
Long toe, Sacral dimple, Coxa magna, Depressed nasal bridge, Sandal gap, Long fingers, Bulbous no... |
ORPHA:261279 |
Fg Syndrome Type 1 |
|
Single transverse palmar crease, Micrognathia, Prominent nose, Generalized joint laxity, Atrial s... |
ORPHA:93932 |
Parkes Weber Syndrome |
|
Abnormal bleeding, Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarac... |
ORPHA:90307 |
Al Kaissi Syndrome |
|
Broad-based gait, Sacral dimple, Depressed nasal bridge, Broad nasal tip, Small hand, Wide nasal ... |
OMIM:617694 |
Meier-Gorlin Syndrome 5 |
|
Prominent metopic ridge, Micrognathia, Hypoplasia of the maxilla, Elbow dislocation, Irregular fe... |
OMIM:613805 |
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome |
|
Slender nose, Ataxia, Arachnodactyly, Micrognathia, Short neck, Flexion contracture, Calcaneovalg... |
ORPHA:562528 |
Caspase 8 Deficiency |
|
Short stature, Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, Failure to thrive |
OMIM:607271 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positiv... |
ORPHA:169154 |
Al-Raqad Syndrome |
|
Joint laxity, Sandal gap, Inability to walk, Gait ataxia, Seizure, Atrial septal defect, Short no... |
OMIM:616459 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Multiple Epiphyseal Dysplasia Type 5 |
|
Back pain, Osteoarthritis of the small joints of the hand, Decreased hip abduction, Abnormal uppe... |
ORPHA:93311 |
Alg12-Cdg |
|
Proximal placement of thumb, Micrognathia, Recurrent hypoglycemia, Hypoalbuminemia, Abnormal bone... |
ORPHA:79324 |
Sotos Syndrome |
|
Mandibular prognathia, Increased body weight, Glucose intolerance, Atrial septal defect, Advanced... |
OMIM:117550 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... |
OMIM:601859 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Micrognathia, Kyphosis, Scoliosis, Delayed puberty, Short nose |
ORPHA:2598 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Wide nose, Hypoplasia of the maxilla, Recurrent upper respiratory tract infec... |
ORPHA:2399 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Elevated circulating creatine kinase concentration, Micrognathia, Seizure, Congenital contracture... |
OMIM:615042 |
Osteogenesis Imperfecta, Type Xi |
|
Osteopenia, Joint laxity, Short stature, Recurrent fractures, Protrusio acetabuli, Kyphoscoliosis... |
OMIM:610968 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Inguinal hernia, Bicuspid aortic valve, Ventricular septal defect, Single transverse palmar creas... |
ORPHA:329224 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Hallux valgus, Brachydactyly, Broad hallux, Prominent nasal bridge, Micrognathia, Tapered finger,... |
OMIM:618659 |
Ruvalcaba Syndrome |
|
Inguinal hernia, Short metacarpal, Brachydactyly, Micromelia, Proximal placement of thumb, Kyphos... |
ORPHA:3121 |
Contractural Arachnodactyly, Congenital |
|
Osteopenia, Bicuspid aortic valve, Micrognathia, Short neck, Knee flexion contracture, Atrial sep... |
OMIM:121050 |
Developmental And Epileptic Encephalopathy 107 |
|
Abnormal repetitive mannerisms |
OMIM:620033 |
Spondyloepiphyseal Dysplasia Tarda With Characteristic Facies |
|
Flattened knee epiphyses, Wide nasal bridge, Broad nasal tip |
OMIM:600093 |
Adenylosuccinate Lyase Deficiency |
|
Prominent metopic ridge, Seizure, Short nose, Anteverted nares |
ORPHA:46 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased proportion of memory T cells, Increased B cell count, Lymphadenopathy, Hepatosplenomegaly |
OMIM:618982 |
Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Ataxia, Aggressive behavior, Progressive language deterioration, Attention deficit... |
OMIM:610042 |
6Q25 Microdeletion Syndrome |
|
Camptodactyly of finger, Rocker bottom foot, Micrognathia, Wide nasal bridge, Seizure, Clinodacty... |
ORPHA:251056 |
Seizures-Scoliosis-Macrocephaly Syndrome |
|
Broad-based gait, Overlapping toe, Bulbous nose, Reduced bone mineral density, Seizure, Scoliosis... |
ORPHA:466926 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Small for gestational age, Short stature, Patent ductus arteriosus, Annular pancrea... |
OMIM:227646 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Inability to walk, 2-3 toe sy... |
OMIM:613443 |
Mucopolysaccharidosis, Type X |
|
Irregular acetabular roof, Spatulate ribs, Broad clavicles, Hyperlordosis, Disproportionate short... |
OMIM:619698 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
Edinburgh Malformation Syndrome |
|
Anteverted nares, Choanal atresia, Micrognathia, Joint stiffness, Long fingers, Ulnar deviation o... |
ORPHA:1895 |
Pancreatic Agenesis 1 |
|
Pancreatic hypoplasia, Pancreatic aplasia, Neonatal insulin-dependent diabetes mellitus, Exocrine... |
OMIM:260370 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal pelvic girdle bone morphology, Intrauterine growth retardation, Slender long bone, Abnor... |
ORPHA:1506 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620065 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Splenomegaly, Lymphadenopathy, Decr... |
OMIM:618495 |
3Mc Syndrome 2 |
|
Prominence of the premaxilla, Prominent nasal bridge, Craniosynostosis, Limited elbow movement, H... |
OMIM:265050 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Joint laxity, Diabetes insipidus, Inability to walk, Wide nasal bridge, Seizure, Difficulty walki... |
OMIM:611087 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Bicuspid aortic valve, Depressed nasal ridge, Atrial septal defect, Clinodactyly of the 5th finge... |
OMIM:607872 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Diabeti... |
OMIM:615238 |
Immunodeficiency 68 |
|
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
Breath-Holding Spells |
|
Iron deficiency anemia, Pallor |
OMIM:607578 |
Achondrogenesis |
|
Inguinal hernia, Anteverted nares, Micromelia, Micrognathia, Abnormal enchondral ossification, Sh... |
ORPHA:932 |
Mesomelic Dysplasia, Savarirayan Type |
|
Short stature, Delayed closure of the anterior fontanelle, Hip dislocation, Fibular aplasia, Shor... |
OMIM:605274 |
Short Syndrome |
|
Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Abnormal zy... |
ORPHA:3163 |
Turcot Syndrome With Polyposis |
|
Glioblastoma multiforme, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Glioma, Pilomatrixoma... |
ORPHA:99818 |
Bohring-Opitz Syndrome |
|
Micrognathia, Flexion contracture, Atrial septal defect, Dislocated radial head, Syndactyly, Prom... |
OMIM:605039 |
Familial Isolated Dilated Cardiomyopathy |
|
Abnormality of neutrophils |
ORPHA:154 |
Agammaglobulinemia 6, Autosomal Recessive |
|
B lymphocytopenia, Abnormal T cell morphology |
OMIM:612692 |
Craniofrontonasal Dysplasia |
|
Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Congenital diaphrag... |
ORPHA:1520 |
Orofaciodigital Syndrome Xi |
|
Kyphoscoliosis, Postaxial polydactyly, Hypoplasia of the odontoid process, Bulbous nose, Wide nas... |
OMIM:612913 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Small for gestational age, Short stature, Pure red cell aplasia, Myelodys... |
ORPHA:124 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Joint laxity, Limited elbow extension and supination, Brachydactyly, Ventricular septal defect, P... |
ORPHA:401935 |
Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Absent vertebral body mineralization, Broad long bones, Short tubular bones ... |
OMIM:200610 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Prominent metopic ridge, Short stature, Fused cervical vertebrae, Short middle phalanx of finger,... |
OMIM:309620 |
White Forelock With Malformations |
|
Finger syndactyly, Abnormal rib morphology, Joint hyperflexibility, Clinodactyly of the 5th finge... |
ORPHA:2475 |
Velo-Facial-Skeletal Syndrome |
|
Prominent fingertip pads, Abnormal thumb morphology, Wide nasal bridge, Large hands, Short palm, ... |
ORPHA:3424 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Pericallosal lipoma, Camptodactyly of finger, Underdeveloped nasal alae, Hypoplasia of the maxill... |
ORPHA:306542 |
Geroderma Osteodysplastica |
|
Beaking of vertebral bodies, Severe short stature, Recurrent fractures, Osteoporosis, Hip disloca... |
ORPHA:2078 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Brachydactyly, Prominent nasal bridge, Camptodactyly of finger, Underdeveloped nasal alae, Microg... |
ORPHA:2083 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Choanal atresia, Micrognathia, Underdeveloped nasal alae, High, narrow palate, Super... |
ORPHA:2108 |
Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Ventricular septal defect, Decreased response to growth hormone stimulation test, Adr... |
OMIM:220210 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Coxa valga, Hypoplasia of the maxilla, Hip dislocation, Abnormality of the vertebral column, Mala... |
OMIM:109120 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618806 |
Chromosome 18Q Deletion Syndrome |
|
Mandibular prognathia, Decreased response to growth hormone stimulation test, Proximal placement ... |
OMIM:601808 |
Nance-Horan Syndrome |
|
Prominent nasal bridge, Prominent nose, Diastema, Mulberry molar, Broad finger, Supernumerary max... |
OMIM:302350 |
Circumvallate Placenta Syndrome |
|
Intracranial hemorrhage |
OMIM:215550 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Polycyst... |
OMIM:151660 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Convex nasal ridge, Abnormal fingertip morphology, Micrognathia, Insulin resistance, Hyperlipidem... |
ORPHA:90154 |
Axenfeld-Rieger Syndrome |
|
Hypoplasia of the maxilla, Abnormality of the hypothalamus-pituitary axis, Depressed nasal bridge... |
ORPHA:782 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Thrombocy... |
OMIM:617780 |
Congenital Factor Ii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... |
ORPHA:325 |
Pontocerebellar Hypoplasia, Type 11 |
|
Broad-based gait, Ataxia, Inability to walk, Bulbous nose, Limb ataxia, Self-injurious behavior, ... |
OMIM:617695 |
Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Decreased adip... |
ORPHA:435651 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Dextrocardia, Craniosynostosis, Micrognathia, Congenital diaphragmatic hernia, Obesity, Abnormal ... |
ORPHA:261197 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Prominent metopic ridge, Anteverted nares, Ataxia, Single transverse palmar crease, Micrognathia,... |
OMIM:619320 |
Teebi Hypertelorism Syndrome 1 |
|
Omphalocele, Natal tooth, Ventricular septal defect, Anteverted nares, Sagittal craniosynostosis,... |
OMIM:145420 |
Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Short palm, Abnormal vertebral segmentation and fusion, Synos... |
ORPHA:90652 |
Snakebite Envenomation |
|
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock, Erythema, In... |
ORPHA:449285 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Mandibular prognathia, Cystic angiomatosis of bone, Reduced subcutaneous adipose tissue, Diabetes... |
OMIM:608594 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Splenomegaly, Anemia, Neutropenia, Failure to thrive, Pancreatitis, Thrombocytopenia |
ORPHA:79312 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Atrial septal defect, Cyanosis, Overriding aorta, Single transverse palmar crease, Micrognathia, ... |
ORPHA:3304 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, Weight loss,... |
ORPHA:545 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Widely spaced teeth, Ataxia, Cleft soft palate, Tapered finger, Supernumerary tooth, Gait disturb... |
ORPHA:268261 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Mandibular prognathia, Broad nasal tip, Self-injurious behavior, High palate, Clinodactyly of the... |
OMIM:615637 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Recurrent fractures, Micromelia, Abnormal rib morphology, Joint hyperflexibility, Decreased calva... |
ORPHA:2772 |
Bardet-Biedl Syndrome 19 |
|
Ventricular septal defect, Mesoaxial hand polydactyly, Partial atrioventricular canal defect, Pos... |
OMIM:615996 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperglycemia |
OMIM:604484 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... |
OMIM:619897 |
Leukemia, Chronic Myeloid |
|
Ph-positive acute lymphoblastic leukemia, Chronic myelogenous leukemia |
OMIM:608232 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hyperinsulinemic hypoglycemia, Hepatic failure |
OMIM:602579 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Bardet-Biedl Syndrome 2 |
|
Diabetes mellitus, Bicuspid aortic valve, Postaxial hand polydactyly, Dilated cardiomyopathy, Obe... |
OMIM:615981 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Abnormality of the hand, Micrognathia, Unilateral radial aplasia, Complete atrioventricular canal... |
ORPHA:476126 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short neck, Delayed epiphyseal ossification, Flexion contracture, Rhizo-meso-acromelic limb short... |
OMIM:611717 |
Peters-Plus Syndrome |
|
Single transverse palmar crease, Limited elbow movement, Micrognathia, Hypoplasia of the maxilla,... |
OMIM:261540 |
Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Delayed eruption of teeth, Congenital hip dislocation, Depressed nasal bri... |
OMIM:268400 |
Alazami Syndrome |
|
Wide nose, Depressed nasal bridge, Wide nasal bridge, Scoliosis, Decreased body weight, Malar fla... |
OMIM:615071 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Depressed nasal bridge, Hurthle cell thyroid adenoma, Preaxial hand polydactyly, Multiple lipomas... |
ORPHA:210548 |
Xq28 (MECP2) duplication |
|
Depressed nasal bridge, Inability to walk, Narrow mouth, Gait ataxia, Depression, Dysphagia, Mala... |
DECIPHER:45 |
German Syndrome |
|
Depressed nasal bridge, Camptodactyly of finger, Micrognathia, Short neck, Limitation of joint mo... |
ORPHA:2077 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Intrauterine growth retardation, Th... |
OMIM:610333 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Hypoplasia of the maxilla, Short mandibular condyles, Ulnar radial head dislocation |
OMIM:264270 |
49,Xxxyy Syndrome |
|
Mandibular prognathia, Eunuchoid habitus, Micrognathia, Increased circulating gonadotropin level,... |
ORPHA:261534 |
2Q31.1 Microdeletion Syndrome |
|
Micrognathia, Short neck, Abnormal tibia morphology, Vertebral segmentation defect, Short palm, C... |
ORPHA:251014 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Sclerotic vertebral body, Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphy... |
OMIM:144750 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Inguinal hernia, Multifocal seizures, Anteverted nares, Broad nasal tip, Micrognathia, Wide anter... |
OMIM:618548 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Lymphadenopathy, B lymphocytopenia, Failure to thrive, Decreased proport... |
OMIM:618048 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Anteverted nares, Single transverse palmar crease, Micrognathia, Bulbous nose, Clinodactyly, Wide... |
OMIM:613604 |
Bainbridge-Ropers Syndrome |
|
Micrognathia, Contracture of the proximal interphalangeal joint of the 4th finger, Choanal stenos... |
OMIM:615485 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Narrow nasal bridge, Inguinal hernia, Bilateral tonic-clonic seizure, Infantile spasms, Tapered f... |
ORPHA:544503 |
Acrocephalopolydactyly |
|
Short neck, Depressed nasal ridge, Short long bone, Limb undergrowth, Premature closure of fontan... |
ORPHA:221054 |
Systemic Lupus Erythematosus 17 |
|
Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia |
OMIM:301080 |
Congenital Factor V Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:326 |
Congenital Factor Xiii Deficiency |
|
Epistaxis, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding after surgery, Post-partum h... |
ORPHA:331 |
Meier-Gorlin Syndrome 3 |
|
Microretrognathia, Absent sternal ossification, Prominent nasal bridge, Micrognathia, Hypoplasia ... |
OMIM:613803 |
Hemochromatosis, Type 3 |
|
Lymphopenia, Cirrhosis, Anemia, Neutropenia |
OMIM:604250 |
Pancreatic Agenesis 2 |
|
Exocrine pancreatic insufficiency, Diabetes mellitus, Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:615935 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Stomatitis, Emphysema |
OMIM:618307 |
Familial Median Cleft Of The Upper And Lower Lips |
|
Abnormal maxilla morphology, Abnormal mandible morphology |
ORPHA:401942 |
Immunodeficiency 85 And Autoimmunity |
|
Failure to thrive in infancy, Growth delay, T lymphocytopenia, Decreased proportion of CD4-positi... |
OMIM:619510 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Thin upper lip vermilion, Hyperactivity, Tented upper lip vermilion, Ataxia, Sandal gap, Depresse... |
OMIM:618430 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Hyperactivity, Cleft upper lip, Wide nasal bridge, Downturned corners of mouth, Short philtrum, B... |
OMIM:613192 |
Kahrizi Syndrome |
|
Elbow contracture, Bulbous nose, Wide nasal bridge, Knee flexion contracture, Seizure, Thoracic k... |
OMIM:612713 |
Metaphyseal Acroscyphodysplasia |
|
Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Micromelia, Coxa valga... |
ORPHA:1240 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Purpura, Cerebral hemorrhage, Anemia, Pulmonary embolism |
OMIM:614514 |
Megalencephaly |
|
Short neck, Wide nasal bridge, Abnormality of the fontanelles or cranial sutures, Genu valgum, Tr... |
ORPHA:2477 |
Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating IgG level, Inguinal hernia, Brachydactyly, Ataxia, Anteverted nares, Single... |
OMIM:617062 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Confusion, Dementia, Agitation, Disinhibition, Semantic dementia, Memory impairment, Abno... |
ORPHA:1020 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Ventricular septal defect, Prominent nasal bridge, Tapered finger, Bulbous nose, Flexion contract... |
OMIM:613870 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Small for gestational age, Short stature, Postnatal growth retardation, Embryonal rhabdomyosarcom... |
OMIM:257300 |
Afibrinogenemia, Congenital |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Splenic rupture, Prolonged bleedi... |
OMIM:202400 |
Galactosemia Iii |
|
Splenomegaly, Jaundice, Failure to thrive, Hepatomegaly |
OMIM:230350 |
Emanuel Syndrome |
|
Broad jaw, Inguinal hernia, Congenital hip dislocation, Truncus arteriosus, Ventricular septal de... |
OMIM:609029 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Bicuspid aortic valve, Premature thelarche, Abnormal hand morphology, Osteolysis invo... |
ORPHA:371428 |
Hb Bart'S Hydrops Fetalis |
|
Pericarditis, Abnormal hemoglobin, Splenomegaly, Hydrocephalus, Congestive heart failure, Pallor,... |
ORPHA:163596 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin... |
OMIM:102700 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Microretrognathia, Hypoplasia of the maxilla, Anteverted nares, Clinodactyly of the 5th finger |
ORPHA:228396 |
Ataxia-Telangiectasia |
|
Lymphopenia, Short stature, Neoplasm, Delayed puberty, Failure to thrive, Aplasia/Hypoplasia of t... |
ORPHA:100 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Depressed nasal bridge, Ventricular septal defect, Apl... |
ORPHA:2256 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Abnormal rib morphology, ... |
ORPHA:3035 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Short attention span, Hyperactivity, Thin upper lip vermilion, Aggressive behavior, Dysphoria, 2-... |
OMIM:620242 |
Coffin-Siris Syndrome 7 |
|
Thin upper lip vermilion, Hyperactivity, Wide nose, Severe temper tantrums, Anteverted nares, Dep... |
OMIM:618027 |
Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle... |
OMIM:615297 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Long toe, Lipodystrophy, Arachnodactyly, Kyphoscoliosis, Palmoplantar cutis gyrata, F... |
ORPHA:75496 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Conical incisor, Cutaneous finger syndactyly, Hypoalbuminemia, Short palm, Hypoplastic iliac wing... |
OMIM:235510 |
Growth Delay Due To Insulin-Like Growth Factor I Resistance |
|
Broad nasal tip, Wide nasal bridge, Short palm, Intrauterine growth retardation, Clinodactyly |
ORPHA:73273 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Joint dislocation, Short stature, Recurrent fractures, Osteomalacia, Abnormal thorax morphology, ... |
ORPHA:93160 |
Burn-Mckeown Syndrome |
|
Mandibular prognathia, Inguinal hernia, Ventricular septal defect, Choanal atresia, Prominent nas... |
OMIM:608572 |
Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Short stature, Hepatomegaly |
ORPHA:417 |
Omenn Syndrome |
|
Hepatomegaly, Failure to thrive, Eosinophilia, Splenomegaly, Leukocytosis, Lymphoma, Lymphadenopa... |
ORPHA:39041 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph... |
ORPHA:331206 |
Burn-Mckeown Syndrome |
|
Prominent nasal bridge, Wide nasal bridge, Abnormal cardiac septum morphology, Short nose, Bilate... |
ORPHA:1200 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Osteopenia, Mandibular prognathia, Metaphyseal widening, Coxa vara, Thoracic kyphosis, Decreased ... |
OMIM:271510 |
Sheldon-Hall Syndrome |
|
Ulnar deviation of the wrist, Tarsal synostosis, Micrognathia, Joint stiffness, Short neck, Adduc... |
ORPHA:1147 |
Rubinstein-Taybi Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Failure to thrive in infancy, Abnormal distal phalanx mo... |
ORPHA:783 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Coxa vara, Reduced bone mineral density, Pectus carinatum, Tibial bowing, Hypoplastic... |
ORPHA:93315 |
Filippi Syndrome |
|
Enlarged epiphyses, Wide nose, Finger syndactyly, Ventricular septal defect, Prominent nasal brid... |
ORPHA:3255 |
Cerebral Amyloid Angiopathy, Cst3-Related |
|
Intracranial hemorrhage, Stroke, Cerebral hemorrhage |
OMIM:105150 |
Nphp3-Related Meckel-Like Syndrome |
|
Intestinal malrotation, Pulmonary hypoplasia |
ORPHA:3032 |
Autosomal Recessive Omodysplasia |
|
Abnormal morphology of the radius, Depressed nasal bridge, Anteverted nares, Craniosynostosis, Mi... |
ORPHA:93329 |
Reversible Cerebral Vasoconstriction Syndrome |
|
Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub... |
ORPHA:284388 |
Wolman Disease |
|
Hepatomegaly, Cachexia, Bone-marrow foam cells, Splenomegaly, Growth delay, Ascites, Anemia |
ORPHA:75233 |
Chime Syndrome |
|
Abnormal dental morphology, Aplastic clavicle, Abnormality of the dentition, Supernumerary tooth,... |
ORPHA:3474 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hypogonadism, Insulin resistance, Hypoglycemia |
ORPHA:73272 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Inguinal hernia, Prominent metopic ridge, Ventricular septal defect, Anterior pituitary hypoplasi... |
OMIM:613457 |
Braddock-Carey Syndrome 1 |
|
Aortic valve prolapse, Ventricular septal defect, Anteverted nares, Hyperlordosis, Clinodactyly, ... |
OMIM:619980 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Cryptorchidism, Insulin resistance |
OMIM:214150 |
Fatty Acyl-Coa Reductase 1 Deficiency |
|
Inability to walk, Short nose, Seizure, Depressed nasal bridge |
ORPHA:438178 |
Severe Hemophilia A |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr... |
ORPHA:169802 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Short stature, Abscess, Perianal abscess, Splenomegaly, Lym... |
OMIM:618935 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Depressed nasal bridge, Ventricular septal defect, Prominent nasal bridge, Overlapping toe, Seizu... |
OMIM:618974 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Autism, Susceptibility To, X-Linked 2 |
|
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines |
OMIM:300495 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic active hepatitis, Hypergonadotropic hypogona... |
OMIM:203800 |
Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Glioma, B-cell lymphoma, Rhabdomyosarcoma, Cachexi... |
ORPHA:647 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Mandibular prognathia, Micrognathia, Prominent nose, Depressed nasal ridge, Downturned corners of... |
OMIM:156200 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Abnormality of the temporomandibular joint, Multiple joint contractures, Single trans... |
ORPHA:536471 |
Mosaic Trisomy 1 |
|
Thoracic scoliosis, Single transverse palmar crease, Congenital diaphragmatic hernia, Finger clin... |
ORPHA:1692 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Hemophagocytosis |
OMIM:300635 |
Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Petechiae, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruisi... |
ORPHA:3002 |
Polyrrhinia |
|
Abnormal external nose morphology, Supernumerary naris, Abnormal nasal bone morphology |
ORPHA:141091 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracranial hemorrhage, Hyper... |
ORPHA:136 |
Tarp Syndrome |
|
Single transverse palmar crease, Micrognathia, Atrial septal defect, Finger syndactyly, Anteverte... |
ORPHA:2886 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Inguinal hernia, Arachnodactyly, Overlapping toe, Thoracolumbar scoliosis, Micrognathia, Underdev... |
ORPHA:436003 |
Shashi-Pena Syndrome |
|
Short metacarpal, Hypoglycemia, Broad nasal tip, Kyphosis, Osteoporosis, Seizure, Deep palmar cre... |
OMIM:617190 |
Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Omphalocele, Inguinal hernia, Sacral dimple, Anteverted nares, Single ... |
OMIM:247200 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microretrognathia, Overlapping toe, Short neck, Inability to walk, Bulbous nose, Wide nasal bridg... |
OMIM:618571 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Bicuspid aortic valve, Congenital diaphragmatic hernia, Micrognathia, Cardiomegaly, S... |
OMIM:245600 |
Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
Orofacial Cleft 13 |
|
Oligodontia, Cleft soft palate |
OMIM:613857 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Leukemia, Myelodysplasia |
OMIM:619951 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Anterior atlanto-occ... |
ORPHA:536467 |
Rhiny |
|
Inguinal hernia, Anteverted nares, Short nose |
OMIM:180360 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Small for gestational age, Mild postnatal growth... |
OMIM:224120 |
8P Inverted Duplication/Deletion Syndrome |
|
Small hypothenar eminence, Anteverted nares, Dextrocardia, Micrognathia, Precocious puberty, Long... |
ORPHA:96092 |
Singleton-Merten Syndrome 1 |
|
Osteopenia, Hypoplastic distal radial epiphyses, Cardiomegaly, Hypoplasia of the maxilla, Eruptio... |
OMIM:182250 |
Developmental And Epileptic Encephalopathy 64 |
|
Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Micrognathia, Broad nasal tip... |
OMIM:618004 |
Intellectual Disability, Buenos-Aires Type |
|
Mandibular prognathia, Dental malocclusion, Wide nasal bridge, Reduced bone mineral density, Abno... |
ORPHA:3079 |
Respiratory Distress Syndrome In Premature Infants |
|
Atelectasis, Pulmonary edema |
OMIM:267450 |
Atelis Syndrome 1 |
|
Ventricular septal defect, Prominent nose, Carious teeth, Lumbar kyphosis, Attention deficit hype... |
OMIM:620184 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Fgfr2-Related Bent Bone Dysplasia |
|
Extramedullary hematopoiesis, Hepatosplenomegaly |
ORPHA:313855 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Lipoatrophy, Micrognathia, Bulbous nose, Wide nasal bridge, Intrauterine growth retardation, Fail... |
ORPHA:261304 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Natal tooth, Depressed nasal bridge, Ankle flexion contracture, Micrognathia, Inability to walk, ... |
OMIM:617802 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Hyperactivity, Broad-based gait, Ataxia, Depressed nasal bridge, Tongue thrusting, Pica, Unsteady... |
OMIM:617865 |
Immunodeficiency 44 |
|
Lymphopenia |
OMIM:616636 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Psychomotor deterioration, Inguinal hernia, Congenital hip dislocation, Lipodystrophy, Anteverted... |
ORPHA:357074 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology, Intrauterine growt... |
OMIM:615966 |
Pontocerebellar Hypoplasia, Type 2E |
|
Wide nose, Bilateral tonic-clonic seizure with generalized onset, Infantile spasms, Micrognathia,... |
OMIM:615851 |
Opitz Gbbb Syndrome |
|
Inguinal hernia, Abnormal nasopharynx morphology, Ventricular septal defect, Anteverted nares, Wi... |
OMIM:300000 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Small for gestational age, Ventricular septal defect, Craniosynostosis, Micrognathia, Decreased r... |
OMIM:614114 |
48,Xxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Down-sloping shoulders, Abnormal dental enamel ... |
ORPHA:96263 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Ascites, Failure to thrive |
OMIM:269920 |
Tumor Predisposition Syndrome 2 |
|
Acute myeloid leukemia, Schwannoma, Uveal melanoma, Juvenile type ovarian granulosa cell tumor, D... |
OMIM:619975 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Brain Small Vessel Disease 2 |
|
Growth delay, Intracranial hemorrhage |
OMIM:614483 |
Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d... |
ORPHA:103918 |
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome |
|
Convex nasal ridge, Cleft ala nasi, Wide nasal bridge, Underdeveloped nasal alae |
ORPHA:2007 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Arachnodactyly, Micrognathia, Bulbous nose, Wide nasal bridge, Atrial septal defect, Malar flatte... |
ORPHA:93946 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... |
OMIM:101400 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Hyperactivity, Scapular winging, Anteverted nares, Depressed nasal bridge, Prominent nasal bridge... |
OMIM:617796 |
Long Qt Syndrome 16 |
|
Perimembranous ventricular septal defect |
OMIM:618782 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Osteopenia, Thoracic scoliosis, Widened atrophic scar, Micrognathia, Equinus calcaneus, Shoulder ... |
ORPHA:536532 |
8Q24.3 Microdeletion Syndrome |
|
Thoracic scoliosis, Congenital hip dislocation, Cleft maxillary alveolar ridge, Finger clinodacty... |
ORPHA:508488 |
Oculoskeletodental Syndrome |
|
Metaphyseal dysplasia, Thick nasal alae, Depressed nasal bridge, Hyperlordosis, Clinodactyly, Wid... |
ORPHA:557003 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Convex nasal ridge, Micrognathia, Short neck, Generalized joint laxity, Tibial bowing... |
ORPHA:251028 |
Factor Xiii, A Subunit, Deficiency Of |
|
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... |
OMIM:613225 |
Abetal34V Amyloidosis |
|
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage |
ORPHA:324703 |
Brachyolmia Type 3 |
|
Barrel-shaped chest, Short neck, Kyphosis, Childhood-onset short-trunk short stature, Proximal fe... |
OMIM:113500 |
Aicardi Syndrome |
|
Prominence of the premaxilla, Epileptic spasm, Block vertebrae, Anteverted nares, Proximal placem... |
OMIM:304050 |
Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:612126 |
Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... |
OMIM:312150 |
Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Growth delay, Sideroblastic anemia, Hypertrophic cardiomyopathy, Pallor |
OMIM:613561 |
X-Linked Intellectual Disability, Najm Type |
|
Micrognathia, Wide nasal bridge, Seizure, Gait disturbance, Scoliosis, Failure to thrive |
ORPHA:163937 |
Craniosynostosis 2 |
|
Supernumerary tooth, Cleft soft palate, Triphalangeal thumb, Brachydactyly |
OMIM:604757 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Abnormal intervertebral disk morphology, Anteverted nares, Carious teeth, Abnormality of the elbo... |
ORPHA:2701 |
Diaphanospondylodysostosis |
|
Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Inguinal hernia... |
OMIM:608022 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia |
OMIM:613313 |
Pycnodysostosis |
|
Increased bone mineral density, Persistent open anterior fontanelle, Short stature, Wormian bones... |
OMIM:265800 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Depressed nasal bridge, Hypoglycemia, Wide anterior fontanel, Glycosuria, Neonatal death |
OMIM:231680 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Subperiost... |
OMIM:264700 |
Noonan Syndrome 12 |
|
Glabellar hemangioma, Lymphopenia, Thrombocytopenia |
OMIM:618624 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Splenomegaly, Hemophagocytosis, Subcutaneous panniculitis-like T-cell lymphoma, Anemia |
OMIM:618398 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Pulmonary hypoplasia |
OMIM:613124 |
Coffin-Siris Syndrome 5 |
|
Wide nose, Arachnodactyly, Depressed nasal bridge, Sandal gap, Seizure, Atrial septal defect, Int... |
OMIM:616938 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Neonatal alloimmune thro... |
ORPHA:853 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Omphalocele, Hypoplasia of the premaxilla, Adrenal hypoplasia, Micrognathia, Postaxial hand polyd... |
ORPHA:2166 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Severe short stature, Abnormal rib morphology, Abnormal epiphysis morphology, Intrauterine growth... |
ORPHA:2643 |
Fetal Alcohol Syndrome |
|
Anteverted nares, Congenital diaphragmatic hernia, Micrognathia, Joint stiffness, Vertebral segme... |
ORPHA:1915 |
Man1B1-Cdg |
|
Broad-based gait, Wide nose, Prominent nose, Short neck, Wide nasal bridge, 2-3 toe syndactyly, T... |
ORPHA:397941 |
Pancreatitis, Hereditary |
|
Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Exocrine pancre... |
OMIM:167800 |
Kyphomelic Dysplasia |
|
Micromelia, Lateral clavicle hook, Femoral bowing, Tibial bowing, Pterygium, Short metacarpal, Ra... |
OMIM:211350 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Short attention span, Ataxia, Impulsivity, Aggressive behavior, Protruding tongue, Inability to w... |
OMIM:619580 |
White-Sutton Syndrome |
|
Mandibular prognathia, Congenital diaphragmatic hernia, Micrognathia, Short neck, Hypoglycemic se... |
OMIM:616364 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Ventral hernia, Omphalocele, Bicuspid aortic valve, Anteverted nares, Broad hallux, Micrognathia,... |
OMIM:618529 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent circulating B ce... |
OMIM:619705 |
Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate |
OMIM:216300 |
Charlie M Syndrome |
|
Finger syndactyly, Micrognathia, Split hand, Wide nasal bridge, Triphalangeal thumb, Abnormal met... |
ORPHA:1406 |
Becker Nevus Syndrome |
|
Pectus excavatum, Cervical ribs, Hemivertebrae, Scoliosis |
OMIM:604919 |
Babesiosis |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Leukopenia, Thrombocytopenia |
ORPHA:108 |
Three M Syndrome 2 |
|
Scapular winging, Severe short stature, Short stature, Lumbar hyperlordosis, Short neck, Hyperlor... |
OMIM:612921 |
Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Anteverted nares, Ataxia, Prominent nasal bridge, Tapered finger, Wide nasal bridge, Seizure, Hip... |
OMIM:616977 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Prominent fingertip pads, Ventricular septal defect, Overlapping toe, Inability to walk, Bulbous ... |
OMIM:618494 |
Cerebral Cavernous Malformations 2 |
|
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia |
OMIM:603284 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Decreased thyroid-stimulating hormone level, Anteverted nares, Anterior pituitary hypoplasia, Red... |
OMIM:613038 |
Immunodeficiency 55 |
|
Absent natural killer cells, Short stature, Myelodysplasia, Postnatal growth retardation, Lymphad... |
OMIM:617827 |
Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Radi... |
OMIM:619636 |
Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Wi... |
ORPHA:1278 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Increased bone mineral density, Micrognathia, Hyperlordosis, Spina bif... |
ORPHA:2780 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Mandibular prognathia, Inguinal hernia, Camptodactyly of finger, Hypoplasia of the maxilla, Ulnar... |
ORPHA:1101 |
Hereditary Chronic Pancreatitis |
|
Jaundice, Diabetes mellitus, Recurrent pancreatitis, Pancreatic calcification |
ORPHA:676 |
Idiopathic Hypereosinophilic Syndrome |
|
Neutrophilia, Generalized lymphadenopathy, Eosinophilia, Myelodysplasia, Cholangitis, Thrombocyto... |
ORPHA:3260 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Growth delay, Decreased mean corpuscular volume, Poikilocytosis, Elev... |
OMIM:615234 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, Chronic neutropenia, Gen... |
OMIM:614700 |
Hennekam Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Depressed nasal bridge, Camptodactyly of finger, Ab... |
ORPHA:2136 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly... |
OMIM:118100 |
Intellectual Developmental Disorder, Autosomal Recessive 70 |
|
Wide nasal bridge, Seizure, Attention deficit hyperactivity disorder, Febrile seizure (within the... |
OMIM:618402 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I... |
ORPHA:3077 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thoracic scoliosis, Single transverse palmar crease, Micrognathia, Short neck, Verteb... |
OMIM:611209 |
Acro-Renal-Mandibular Syndrome |
|
Abnormal clavicle morphology, Hypoplasia of the ulna, Hypoplastic scapulae, Finger syndactyly, Sh... |
ORPHA:958 |
Moderate Hemophilia A |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after den... |
ORPHA:169805 |
Fumarase Deficiency |
|
Reduced subcutaneous adipose tissue, Depressed nasal bridge, Anteverted nares, Perimembranous ven... |
OMIM:606812 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Lymphoma, ... |
ORPHA:906 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Joint hypermo... |
OMIM:602196 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Microretrognathia, Depressed nasal bridge, Postaxial hand polydactyly, Wide nasal bridge, Truncal... |
OMIM:220220 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Aggressive behavior, Prominent nose, Abnormality of the dentition, 2-3 toe syndact... |
ORPHA:391307 |
Familial Nasal Acilia |
|
Atelectasis, Recurrent upper respiratory tract infections, Bronchiectasis |
ORPHA:922 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Wide cranial sutures, Enlargement of the ankles, Short stature, Osteomalacia, Irregular, rachitic... |
ORPHA:289157 |
Ring Chromosome 10 Syndrome |
|
Sandal gap, Cachexia, Tapered finger, Micrognathia, Short neck, Wide nasal bridge, Seizure, Intra... |
ORPHA:1438 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased... |
OMIM:613986 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Osteopenia, Hypoplasia of the ulna, Ataxia, Anteverted nares, Depressed nasal bridge, Large for g... |
OMIM:615398 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Arachnodactyly, Missing ribs, Abnormal rib morphology, Hemivertebrae, Abnormal form of the verteb... |
ORPHA:2759 |
Baraitser-Winter Syndrome 1 |
|
Bicuspid aortic valve, Anteverted nares, Short neck, Duplication of phalanx of hallux, Retrognath... |
OMIM:243310 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Generalized myoclonic seizure, Tapered finger, Wide nasal bridge, Obesity, Congenital hypothyroid... |
ORPHA:352530 |
Rapp-Hodgkin Syndrome |
|
Syndactyly, Depressed nasal bridge, Underdeveloped nasal alae, Hypoplasia of the maxilla, Carious... |
OMIM:129400 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
High palate, Stillbirth, Dental crowding, Pulmonary hypoplasia |
OMIM:617468 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, Hernia, Decreased skull ossificatio... |
ORPHA:955 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Restricted large joint movement, Flared metaphysis, Hypoplastic pu... |
ORPHA:93346 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage, Hydrocephalus, Abnormal mast cell morphology |
ORPHA:398189 |
Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Insulin-dependent but ketosis-resistant diabetes, Pancreatic calcificat... |
OMIM:608189 |
Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Ataxia, Micrognathia, Tapered finger, Kyphosis, Wide nasal bridge, Joint hyperflexibi... |
ORPHA:2479 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
Congenital Disorder Of Glycosylation, Type Il |
|
Depressed nasal bridge, Short neck, Pericardial effusion, Kyphosis, Hip dislocation, Seizure, Abn... |
OMIM:608776 |
Thanatophoric Dysplasia |
|
Depressed nasal bridge, Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphos... |
ORPHA:2655 |
Tbck-Related Intellectual Disability Syndrome |
|
Mandibular prognathia, Decreased response to growth hormone stimulation test, Short neck, Hypothy... |
ORPHA:488632 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:616860 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Bicuspid aortic valve, Abnormal dental enamel morphology, Prominent nasal bridg... |
ORPHA:96169 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymphopenia, Failure to thrive, Decreased proportion of naive T cells, Lymphoproliferative disord... |
ORPHA:276 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Anteverted nares, Depressed nasal bridge, Tapered finger, Supernumerary tooth, Thin vermilion bor... |
ORPHA:86818 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Short stature, Splenomegaly, Jaundice, Acholic stools, Portal fibrosis, Failure to ... |
OMIM:619868 |
Mirage Syndrome |
|
Short stature, Petechiae, Thrombocytopenia, Patent ductus arteriosus, Hydrocephalus, Intracranial... |
OMIM:617053 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Short stature, Pallor |
ORPHA:2786 |
Baller-Gerold Syndrome |
|
Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Failure to thrive... |
ORPHA:1225 |
Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Diabetes mellitus, Dextrocardia, Underdeveloped nasal alae, Abnormal c... |
ORPHA:2315 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Ataxia, Depressed nasal bridge, Micrognathia, Coxa valga, Hammertoe, Distal arthrogryposis, Hip d... |
OMIM:619833 |
Acrofacial Dysostosis, Cincinnati Type |
|
Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Femoral bowing, Flared lower limb metap... |
OMIM:616462 |
Kabuki Syndrome 2 |
|
Joint laxity, Natal tooth, Prominent fingertip pads, Micrognathia, Broad nasal tip, Dental malocc... |
OMIM:300867 |
Gorlin Syndrome |
|
Mandibular prognathia, Vertebral fusion, Hypogonadotropic hypogonadism, Arachnodactyly, Carious t... |
ORPHA:377 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Skin ulcer, Anemia, Pallor, Thrombocytopenia |
ORPHA:848 |
Opsismodysplasia |
|
Short neck, Hypoplastic vertebral bodies, Narrow chest, Short palm, Short phalanx of finger, Shor... |
OMIM:258480 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Rhizomelia, Short stature, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of t... |
ORPHA:163966 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... |
OMIM:603909 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect, Micrognathia, Short thu... |
OMIM:612561 |
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia |
|
Underdeveloped nasal alae, Prominent nose, Micrognathia, Supernumerary tooth, Conical tooth, Wide... |
ORPHA:90024 |
Clark-Baraitser Syndrome |
|
Depressed nasal bridge, Anteverted nares, Sandal gap, Clinodactyly, Obesity, Seizure, Short nose,... |
OMIM:617752 |
Treacher-Collins Syndrome |
|
Failure to thrive, Abnormal dental enamel morphology, Choanal atresia, Micrognathia, Hypoplasia o... |
ORPHA:861 |
Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production, Hypochro... |
OMIM:300751 |
Otospondylomegaepiphyseal Dysplasia |
|
Enlarged joints, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnor... |
ORPHA:1427 |
Joubert Syndrome 14 |
|
Encephalocele, Hydrocephalus, Meningocele, Growth delay, Intracranial hemorrhage, Hypertension |
OMIM:614424 |
Even-Plus Syndrome |
|
Epiphyseal dysplasia, Short neck, Bifid nasal tip, Vertebral clefting, Depressed nasal ridge, Cor... |
OMIM:616854 |
Zechi-Ceide Syndrome |
|
Mandibular prognathia, Wide nose, Sandal gap, Short metatarsal, Wide nasal bridge, Abnormal heart... |
ORPHA:217017 |
Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology, Pallor |
OMIM:606353 |
Angelman Syndrome Due To A Point Mutation |
|
Mandibular prognathia, Broad-based gait, Ataxia, Abnormal eating behavior, Protruding tongue, Ton... |
ORPHA:411511 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Thin upper lip vermilion, Proximal placement of thumb, Aggressive behavior, Scissor gait, 2-3 toe... |
OMIM:619121 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Short stature, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenop... |
OMIM:257200 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... |
OMIM:186500 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Inguinal hernia, Depressed nasal bridge, Sagittal craniosynostosis, Micrognathia, Small hand, Sei... |
ORPHA:459061 |
Dopamine Beta-Hydroxylase Deficiency |
|
Insulin resistance, Hyperinsulinemia, Hypoglycemia |
ORPHA:230 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Thoracic scoliosis, Micrognathia, Short neck, Osteoarthritis, Generalized joint laxit... |
OMIM:618000 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Anteverted nares, Flared nostrils, Wide nasal bridge, Choreoathetosis,... |
OMIM:312170 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Leukocytosis, Lymphadenopathy |
OMIM:611762 |
Congenital Disorder Of Glycosylation, Type Id |
|
Failure to thrive, Depressed nasal bridge, Long fingers, Bulbous nose, Flexion contracture, Wide ... |
OMIM:601110 |
Sillence Syndrome |
|
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... |
ORPHA:3168 |
Vitamin K Antagonist Embryofetopathy |
|
Brachydactyly, Depressed nasal bridge, Anteverted nares, Choanal atresia, Short neck, Punctate ve... |
ORPHA:1914 |
Immunodeficiency 92 |
|
Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S... |
OMIM:619652 |
Robinow Syndrome |
|
Micrognathia, Hemivertebrae, Atrial septal defect, Fused thoracic vertebrae, Syndactyly, Antevert... |
ORPHA:97360 |
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities |
|
Mandibular prognathia, Wide nasal bridge, Seizure, Retrognathia, Joint hypermobility |
OMIM:619595 |
Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... |
OMIM:253290 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Myelodysplasia, Bone marrow hypocellularity, Abnormally low T cell receptor excisio... |
OMIM:619767 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Short neck, Delayed proximal femoral epiphyseal ossification, Flexion contracture, Metaphyseal wi... |
OMIM:271640 |
20Q11.2 Microduplication Syndrome |
|
Short attention span, Inguinal hernia, Prominent metopic ridge, Anteverted nares, Depressed nasal... |
ORPHA:363659 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Myelodysplasia, Portal hypertension, Anemia, Squamous cell carcinoma of the skin, Lymphopenia, Th... |
OMIM:620365 |
Ankyloglossia With Or Without Tooth Anomalies |
|
Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Short stature, Splenomegaly, Jaundice, Cholestasis |
OMIM:620010 |
Craniofacial-Deafness-Hand Syndrome |
|
Ulnar deviation of the hand, Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Mal... |
OMIM:122880 |
Hypophosphatasia, Infantile |
|
Craniosynostosis, Bowing of the legs, Micromelia, Vertebral clefting, Increased susceptibility to... |
OMIM:241500 |
Ring Chromosome 8 Syndrome |
|
Deviation of finger, Short nose, Anteverted nares |
ORPHA:1450 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Sandal gap, Congenital diaphragmatic hernia, Atrial septal defect, Short... |
OMIM:300887 |
Classic Multiminicore Myopathy |
|
Mandibular prognathia, Microretrognathia, Multiple joint contractures, Spinal rigidity, Mitral va... |
ORPHA:324604 |
Tenorio Syndrome |
|
Osteopenia, Mandibular prognathia, Joint laxity, Wide nose, Hypoglycemia, Anteverted nares, Seizu... |
OMIM:616260 |
Cat-Eye Syndrome |
|
Intrauterine growth retardation, Hip dysplasia, Abnormal rib morphology, Short stature |
ORPHA:195 |
Retinoblastoma |
|
Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma |
OMIM:180200 |
Meier-Gorlin Syndrome 4 |
|
Micrognathia, Hypoplasia of the maxilla, Patellar aplasia, Slender long bone, Intrauterine growth... |
OMIM:613804 |
Tetramelic Monodactyly |
|
Split hand, Oligodactyly |
ORPHA:2564 |
Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Prominent nasal bridge, Bifid nasal tip, Short thumb, 2-3 toe syndacty... |
ORPHA:2712 |
Boudin-Mortier Syndrome |
|
Joint laxity, Mallet finger, Long toe, Arachnodactyly, Long fingers, Pseudoepiphyses of the proxi... |
OMIM:619543 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Reduced subcutaneous adipose tissue, Hyperextensibility of the finger joints, Scapular winging, L... |
OMIM:616914 |
17P13.3 Microduplication Syndrome |
|
Wide nose, Inguinal hernia, Congenital hip dislocation, Short neck, Clinodactyly of the 5th finge... |
ORPHA:217385 |
Codas Syndrome |
|
Congenital hip dislocation, Proximal placement of thumb, Generalized joint laxity, Atrial septal ... |
OMIM:600373 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Flexion contracture, Increased body weight, Atrial septal defect, Lethargy, Hypothala... |
ORPHA:398069 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contracture, Kyphosco... |
ORPHA:1145 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
5Q14.3 Microdeletion Syndrome |
|
Toe syndactyly, Anteverted nares, Short philtrum, Short nose, Abnormal repetitive mannerisms, Ope... |
ORPHA:228384 |
Frontonasal Dysplasia 2 |
|
Aplasia of the nasal bone, Cleft ala nasi, Anteverted nares, Depressed nasal bridge, Craniosynost... |
OMIM:613451 |
Bronchopulmonary Dysplasia |
|
Atelectasis, Abnormal lung morphology, Emphysema, Pulmonary sequestration |
ORPHA:70589 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Short stature, Craniosynostosis, Thin ribs, Slender long bone, Decreased calvarial ossification, ... |
OMIM:618265 |
Mosaic Monosomy X |
|
Osteopenia, Bicuspid aortic valve, Micrognathia, Short neck, Reduced bone mineral density, Dermat... |
ORPHA:99228 |
Monosomy X |
|
Osteopenia, Bicuspid aortic valve, Micrognathia, Short neck, Reduced bone mineral density, Dermat... |
ORPHA:99226 |
Turner Syndrome |
|
Osteopenia, Bicuspid aortic valve, Micrognathia, Short neck, Reduced bone mineral density, Dermat... |
ORPHA:881 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Bicuspid aortic valve, Micrognathia, Short neck, Reduced bone mineral density, Dermat... |
ORPHA:99413 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Osteopenia, Micrognathia, Atrial septal defect, Hypoparathyroidism, Depressed nasal bridge, Preco... |
ORPHA:369837 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death, Epiphyseal stippling, Seizure, Wide nasal bridge |
OMIM:614870 |
Sézary Syndrome |
|
Hepatomegaly, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm of the... |
ORPHA:3162 |
2P15P16.1 Microdeletion Syndrome |
|
Inguinal hernia, Prominent metopic ridge, Sandal gap, Camptodactyly of finger, Prominent nasal br... |
ORPHA:261349 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Beaking of vertebral bodies, Brachydactyly, Depressed nasal bridge, Anteverted nares, Increased i... |
OMIM:618961 |
Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Inguinal hernia, Depressed nasal bridge, Tapered finger, Short neck, Wide n... |
OMIM:607131 |
8Q12 Microduplication Syndrome |
|
Ventricular septal defect, Wide nasal bridge, Short foot, Attention deficit hyperactivity disorde... |
ORPHA:228399 |
Emanuel Syndrome |
|
Delayed eruption of teeth, Broad jaw, Inguinal hernia, Multiple joint contractures, Truncus arter... |
ORPHA:96170 |
Cole Disease |
|
Hyperglycemia |
OMIM:615522 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Thrombocytopenia, Failure to thrive, Absent circulating B cells |
OMIM:619693 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Eosinophilia, Hepatitis, Hepatosplenomegaly, Failure to thrive secondary to recurrent infections,... |
ORPHA:169160 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
Stickler Syndrome, Type I |
|
Anteverted nares, Depressed nasal bridge, Arachnodactyly, Micrognathia, Joint stiffness, Kyphosis... |
OMIM:108300 |
Myoclonic-Astatic Epilepsy |
|
Syndactyly, Epileptic spasm, Anteverted nares, Ataxia, Bilateral tonic-clonic seizure with genera... |
ORPHA:1942 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Osteopenia, Elevated circulating creatine kinase concentration, Micrognathia, Generalized clonic ... |
ORPHA:329178 |
Frontometaphyseal Dysplasia |
|
Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor... |
ORPHA:1826 |
Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Amelia involving the lower limbs, Abnormality of the vertebral spinous pro... |
ORPHA:1299 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Prominent metopic ridge, Epileptic spasm, Anteverted nares, Depressed nasal bridge, Bilateral ton... |
ORPHA:314655 |
Barber-Say Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Wide nose, Lipodystrophy, Anteverted nares, Mic... |
OMIM:209885 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Short metatarsal,... |
OMIM:609945 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Joint laxity, Depressed nasal bridge, Single transverse palmar crease, Bulbous nose, Wide nasal b... |
OMIM:620098 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
Distal Deletion 10P |
|
Micrognathia, Joint stiffness, Short neck, Abnormality of the elbow, Wide nasal bridge, Clinodact... |
ORPHA:1580 |
Temple-Baraitser Syndrome |
|
Delayed eruption of teeth, Wide nose, Anteverted nares, Depressed nasal bridge, Delayed phalangea... |
ORPHA:420561 |
Marshall-Smith Syndrome |
|
Failure to thrive, Bowing of the long bones, Anteverted nares, Choanal atresia, Craniosynostosis,... |
ORPHA:561 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Craniofacial hyperostosis, Short stature, Hyperlordosis, Limitation of joint mobility, Abnormal r... |
ORPHA:3068 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Neuropathic spinal arthropathy, Broad-based gait, Ataxia, Depressed nasal bridge, Kyphoscoliosis,... |
ORPHA:397709 |
Coffin-Siris Syndrome 11 |
|
Cleft soft palate, Esophageal atresia, Downturned corners of mouth, Wide mouth, High palate, Bifi... |
OMIM:618779 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Bilateral tonic-clonic seizure, Rocker bottom foot, Micrognathia, Carious teeth, Pericardial effu... |
OMIM:620070 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:619003 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Inability to walk, Chorea, Gait ataxia, Self-injurious behavior, Compulsive behaviors, Abnormal r... |
OMIM:618917 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect |
OMIM:212090 |
Prader-Willi Syndrome Due To Translocation |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Micrognathi... |
ORPHA:177907 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anteverted nares, Prominent nasal bridge, Abnormal spaced incisors, Broad nasal tip, Inability to... |
ORPHA:411986 |
Pyruvate Dehydrogenase Deficiency |
|
Ataxia, Osteolytic defects of the middle phalanx of the 4th toe, Wide nasal bridge, Choreoathetos... |
ORPHA:765 |
Sneddon Syndrome |
|
Intracranial hemorrhage, Hypertension, Arterial stenosis |
ORPHA:820 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating aspartate amino... |
ORPHA:2088 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Short neck, Metaphyseal chondrodysplasia, Depressed nasal ridge, Abnormal form of the... |
ORPHA:175 |
Acute Promyelocytic Leukemia |
|
Acute promyelocytic leukemia |
OMIM:612376 |
Lymphangiectasia, Intestinal |
|
Intestinal lymphangiectasia, Lymphopenia |
OMIM:152800 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Malar flattening, Maxillozygomatic hypoplasia, Genu valgum |
ORPHA:2972 |
Lissencephaly 4 |
|
Seizure, Wide nasal bridge |
OMIM:614019 |
Pallister-Hall-Like Syndrome |
|
Toe syndactyly, Depressed nasal bridge, Micromelia, Micrognathia, Postaxial hand polydactyly, Hip... |
OMIM:241800 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Bicuspid aortic valve, Single transverse palmar crease, Limited elbow movement, Micrognathia, Pro... |
OMIM:610759 |
Oculomaxillofacial Dysostosis |
|
Camptodactyly of finger, Abnormality of the nose, Micrognathia, Underdeveloped nasal alae, Abnorm... |
ORPHA:1794 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Lymphoma, Weight loss, Lymphadenopathy, Neoplasm, Bone marrow hypocel... |
ORPHA:391 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Micrognathia, Short neck, Short toe, Flexion contracture, Retrognathia, Wide nasal bridge, Talipe... |
ORPHA:98791 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Depressed nasal bridge... |
ORPHA:284169 |
Distal Duplication 5Q |
|
Hypoplasia of the ulna, Ventricular septal defect, Dextrocardia, Craniosynostosis, Micrognathia, ... |
ORPHA:96097 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Joint hypermobility, Prominent nasal bridge, Joint stiffness, Long nose, Short long bone, Scolios... |
OMIM:619184 |
Hutchinson-Gilford Progeria Syndrome |
|
Micrognathia, Osteoarthritis, Reduced bone mineral density, Limitation of movement at ankles, Abn... |
ORPHA:740 |
Keppen-Lubinsky Syndrome |
|
Narrow nasal bridge, Lack of facial subcutaneous fat, Decreased serum leptin, Micrognathia, Under... |
OMIM:614098 |
Thalidomide Embryopathy |
|
Insulin resistance |
ORPHA:3312 |
Osteopathia Striata With Cranial Sclerosis |
|
Micrognathia, Craniofacial osteosclerosis, Osteopathia striata, Atrial septal defect, Clinodactyl... |
OMIM:300373 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Mandibular prognathia, Short attention span, Hyperactivity, Broad-based gait, Ataxia, Abnormal ea... |
ORPHA:98794 |
Trisomy 13 |
|
Ventricular septal defect, Kyphosis, Postaxial hand polydactyly, Abnormality of the fontanelles o... |
ORPHA:3378 |
Retinoblastoma |
|
Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Melanoma, Retinoblastoma, Leuk... |
ORPHA:790 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Syndactyly, Anteverted nares, Single transverse palmar crease, Vertebral clefting, Hemivertebrae,... |
OMIM:614701 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Anteverted nares, Bilateral tonic-clonic seizure, Tapered finger, Obesity, Generalized non-motor ... |
OMIM:619854 |
Down Syndrome |
|
Joint laxity, Brachydactyly, Depressed nasal bridge, Sandal gap, Short neck, Depressed nasal ridg... |
ORPHA:870 |
C1Q Deficiency 2 |
|
Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis, Oral ulcer |
OMIM:620321 |
Felty Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphoma, Weight loss, Anemia, Lymphadenopathy, Bone marrow hypocellu... |
ORPHA:47612 |
Hamamy Syndrome |
|
Osteopenia, Hypoparathyroidism, Inguinal hernia, Syndactyly, Anteverted nares, Recurrent fracture... |
OMIM:611174 |
Fragile X Syndrome |
|
Joint laxity, Mandibular prognathia, Mitral valve prolapse, Seizure, Scoliosis, Metacarpophalange... |
OMIM:300624 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
Aicardi Syndrome |
|
Prominence of the premaxilla, Block vertebrae, Infantile spasms, Hiatus hernia, Precocious pubert... |
ORPHA:50 |
Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Ovoid vertebral bodies, Joint stiffness, Short neck, Kyphosis, Disproportio... |
ORPHA:583 |
Frontoocular Syndrome |
|
Prominent nasal bridge, Micrognathia, Pulmonic stenosis, Atrial septal defect, Coronal craniosyno... |
OMIM:605321 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Short stature, Splenomegaly, Patent ductus arteriosus, Jaundice, Anemia, Intrauteri... |
ORPHA:290 |
Camurati-Engelmann Disease, Type 2 |
|
Osteopenia, Hip contracture, Waddling gait, Thoracolumbar scoliosis, Knee flexion contracture, Mi... |
OMIM:606631 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Generalized-onset seizure, Hypoplasia of the maxilla, Hemivertebrae, Atrial septal defect, Decrea... |
ORPHA:500150 |
Griscelli Syndrome |
|
Hepatomegaly, Short stature, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymph... |
ORPHA:381 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Mandibular prognathia, Single transverse palmar crease, Atrial septal defect, Finger syndactyly, ... |
ORPHA:464738 |
Chromosome 1P35 Deletion Syndrome |
|
Ataxia, Elevated maternal serum alpha-fetoprotein, Micrognathia, Increased femoral anteversion, W... |
OMIM:617930 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Osteopenia, Short fourth metatarsal, Short metacarpal, Depressed nasal bridge, Overlapping toe, C... |
OMIM:616723 |
Thanatophoric Dysplasia Type 2 |
|
Depressed nasal bridge, Micromelia, Kyphosis, Limitation of joint mobility, Joint hyperflexibilit... |
ORPHA:93274 |
Alkuraya-Kucinskas Syndrome |
|
Overlapping fingers, Anteverted nares, Depressed nasal bridge, Overlapping toe, Micrognathia, Per... |
OMIM:617822 |
Acrocardiofacial Syndrome |
|
Hallux valgus, Finger syndactyly, Hyperthyroidism, Mitral stenosis, Camptodactyly of finger, Vent... |
ORPHA:2008 |
Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Growth delay, Anemia |
OMIM:611490 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia |
ORPHA:158029 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Failure to thrive, Ne... |
ORPHA:79301 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Splenomegaly, Ascites, Anemia |
ORPHA:1046 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Hypoplastic right heart, Micrognathia, Short neck, Short phalanx of finger, Patent foramen ovale,... |
OMIM:616894 |
Spastic Paraplegia 52, Autosomal Recessive |
|
Prominent nose, Focal-onset seizure, Bulbous nose, Flexion contracture, Wide nasal bridge, Talipe... |
OMIM:614067 |
1Q21.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Inguinal hernia, Toe syndactyly, Bulbous nose, Wide nasal bridge, Short foo... |
ORPHA:250989 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Fetal ascites, Hepatomegaly |
OMIM:619462 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal morphology of the radius, Aplastic clavicle, Hiatus hernia, Abnormality of the humerus, ... |
ORPHA:2538 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Delayed eruption of teeth, Prominent metopic ridge, Small for gestational age, Choanal atresia, S... |
OMIM:619148 |
Acquired Von Willebrand Syndrome |
|
Normocytic anemia, Refractory anemia, Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxi... |
ORPHA:99147 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Depressed nasal bridge, Sandal gap, Postaxial polydactyly, Cario... |
OMIM:617102 |
Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib m... |
ORPHA:2769 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Chorea, Inappropriate behavior, Cognitive impairment |
ORPHA:309246 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Growth delay, B lymphocytopenia |
OMIM:614069 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Short stature, Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Ischemic stroke, Delaye... |
ORPHA:280679 |
Pontocerebellar Hypoplasia Type 10 |
|
Seizure, Wide nasal bridge, Underdeveloped nasal alae |
ORPHA:411493 |
9P13 Microdeletion Syndrome |
|
Microretrognathia, Anteverted nares, Joint stiffness, Precocious puberty, Wide nasal bridge, Myoc... |
ORPHA:324313 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum |
OMIM:140850 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Short phalanx of finger, Short metac... |
ORPHA:85167 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Mandibular prognathia, Syndactyly, Ataxia, Inability to walk, Clinodactyly, Dysmetria, Seizure, S... |
OMIM:618087 |
Oculodentodigital Dysplasia |
|
Narrow nasal bridge, Ataxia, Anteverted nares, Narrow nose, Underdeveloped nasal alae, Carious te... |
OMIM:164200 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... |
OMIM:606367 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Micrognathia, Tapered finger, Short neck, Obesity, Wide nasal bridge, Hypoplasia of teeth, Seizur... |
OMIM:620250 |
White Forelock With Malformations |
|
Atrial septal defect, Aplasia/Hypoplasia of the distal phalanges of the toes |
OMIM:277740 |
Fanconi Anemia, Complementation Group J |
|
Postnatal growth retardation, Short thumb, Intrauterine growth retardation |
OMIM:609054 |
Ring Chromosome 6 Syndrome |
|
Short neck, Wide nasal bridge, Short distal phalanx of finger |
ORPHA:1448 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Spina bifida |
OMIM:211960 |
Schimke Immunoosseous Dysplasia |
|
Osteopenia, Waddling gait, Lumbar hyperlordosis, Small for gestational age, Depressed nasal bridg... |
OMIM:242900 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Failure to thrive, Pure red cell aplasia, Autoimmune thrombocytopeni... |
OMIM:613179 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short neck, Hemivertebrae, Pectus carinatum, Reduced bone minera... |
ORPHA:2911 |
Developmental And Epileptic Encephalopathy 30 |
|
Abnormal repetitive mannerisms |
OMIM:616341 |
Growth Hormone Deficiency, Isolated Partial |
|
Postnatal growth retardation, Short stature |
OMIM:615925 |
Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormal intramembranous ossification, Hypoplastic ischia, Short iliac... |
ORPHA:3003 |
Neurofaciodigitorenal Syndrome |
|
Mandibular prognathia, Abnormal distal phalanx morphology of finger, Prominent nasal bridge, Hypo... |
ORPHA:2673 |
Abeta Amyloidosis, Iowa Type |
|
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage |
ORPHA:324708 |
Genitopalatocardiac Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Kyphosis, Postaxial hand polydactyly, Wide nasal b... |
ORPHA:2075 |
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus |
|
Joint laxity, Short attention span, Hyperplasia of the maxilla |
OMIM:613671 |
Hemihyperplasia, Isolated |
|
Myelomeningocele |
OMIM:235000 |
Lethal Congenital Contracture Syndrome 11 |
|
Pulmonary hypoplasia |
OMIM:617194 |
Leukodystrophy, Hypomyelinating, 10 |
|
Anteverted nares, Arachnodactyly, Inability to walk, Bulbous nose, Seizure, Malar flattening, Sho... |
OMIM:616420 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Wide nose, Sacral dimple, Depressed nasal bridge, Ventricular septal defect, Broad nasal tip, Lon... |
OMIM:619995 |
Periventricular Nodular Heterotopia 1 |
|
Patent ductus arteriosus, Stroke, Cerebral hemorrhage |
OMIM:300049 |
Osteogenesis Imperfecta, Type Iv |
|
Otosclerosis, Short stature, Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Reduce... |
OMIM:166220 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T... |
OMIM:242700 |
Immunodeficiency 60 And Autoimmunity |
|
Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count |
OMIM:618394 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Underdeveloped nasal alae, Micrognathia, Kyphosis, Depressed nasal ridge, Wide nasal bridge |
ORPHA:77300 |
Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... |
OMIM:169400 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Ventricular septal defect, Seizure, Scoliosis, Atrial septal defect, Keloids |
ORPHA:357225 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Lymphoproliferative disorder, Hodgkin lymphoma, Neutropenia, Lymphop... |
OMIM:614868 |
Hemophilia A |
|
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Splenic rupture, Intracranial hemorrhag... |
ORPHA:98878 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Mandibular prognathia, Thin upper lip vermilion, Hyperactivity, Prominent nose, Long nose, Gait a... |
OMIM:300486 |
Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
Trisomy 10P |
|
Thumb contracture, Wide cranial sutures, Small for gestational age, Anteverted nares, Depressed n... |
ORPHA:171929 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Mandibular prognathia, Proximal placement of thumb, Abnormal repetitive mannerisms, Self-mutilati... |
OMIM:212066 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Choreoathetosis, Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
Stuve-Wiedemann Syndrome 1 |
|
Single transverse palmar crease, Micrognathia, Short neck, Knee flexion contracture, Femoral bowi... |
OMIM:601559 |
Ear-Patella-Short Stature Syndrome |
|
Failure to thrive, Camptodactyly of finger, Craniosynostosis, Micrognathia, Hypoplasia of the max... |
ORPHA:2554 |
Roifman Syndrome |
|
Hepatomegaly, Short stature, Eosinophilia, Postnatal growth retardation, Splenomegaly, Lymphadeno... |
OMIM:616651 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Arachnodactyly, Craniosynostosis, Joint hyperflexibility, Hand polydac... |
ORPHA:261243 |
Birt-Hogg-Dubé Syndrome |
|
Emphysema, Pneumothorax, Pulmonary sequestration |
ORPHA:122 |
Familial Multiple Lipomatosis |
|
Insulin resistance |
ORPHA:199276 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Median cleft lip, Depressed nasal bridge, Postaxial polydactyly, Accessory oral frenulum, Postaxi... |
OMIM:617088 |
Alazami Syndrome |
|
Wide nose, Abnormal eating behavior, Wide mouth, Slender long bone, Short philtrum, Widely spaced... |
ORPHA:319671 |
Monosomy 18Q |
|
Mandibular prognathia, Abnormal palmar dermatoglyphics, Prominent nose, Secundum atrial septal de... |
ORPHA:1600 |
Cinca Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lymphadenopathy, Growth del... |
ORPHA:1451 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Depressed nasal ridge, Short nose, Anteverted nares |
ORPHA:1355 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hydrocephalus... |
ORPHA:90065 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Short attention span, Anteverted nares, Prominent nasal bridge, Bilateral tonic-clonic seizure, G... |
OMIM:300558 |
Polyvalvular Heart Disease Syndrome |
|
Abnormal heart valve morphology, Micrognathia, Prominent nose, Mitral valve prolapse, Joint hyper... |
ORPHA:228410 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Submucous cleft hard palate, Bifid uvula, Cleft palate |
ORPHA:2521 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Supernumerary tooth, Tooth agenesis, Abnor... |
ORPHA:3353 |
Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Delayed eruption of teeth, Wide nose, Prominent metopic ridge, Depressed n... |
OMIM:614188 |
Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Abnormal morphology of ulna, Joint stiffness, Abnormal rib morphol... |
ORPHA:2167 |
Bare Lymphocyte Syndrome, Type I |
|
Bronchiolitis, Emphysema, Bronchiectasis, Recurrent bronchitis |
OMIM:604571 |
Coffin-Siris Syndrome |
|
Joint laxity, Delayed eruption of teeth, Ventricular septal defect, Thick nasal alae, Anteverted ... |
ORPHA:1465 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Inguinal hernia, Abnormal mitral valve morphology, Prominent nose, Wide nasal bridge, Symphalangi... |
ORPHA:1292 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Failure to thrive, Exocrin... |
OMIM:612714 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Short stature, Thoracic hypoplasia, Metaphyseal spurs, Postaxial polydact... |
OMIM:613091 |
Ring Chromosome 1 Syndrome |
|
Clinodactyly of the 5th finger, Anteverted nares, Wide nasal bridge, Cognitive impairment |
ORPHA:1437 |
Trisomy 20P |
|
Micrognathia, Short neck, Abnormal form of the vertebral bodies, Reduced bone mineral density, Ve... |
ORPHA:261318 |
Acquired Purpura Fulminans |
|
Shock, Pyoderma gangrenosum, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura... |
ORPHA:49566 |
Orofaciodigital Syndrome Xviii |
|
Brachydactyly, Sandal gap, Single transverse palmar crease, Prominent nasal bridge, Postaxial pol... |
OMIM:617927 |
Congenital Myopathy 22A, Classic |
|
Waddling gait, Hip contracture, Scapular winging, Thoracic scoliosis, Micrognathia, Spinal rigidi... |
OMIM:620351 |
Tibial Hemimelia |
|
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... |
ORPHA:93322 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology, Short stature |
OMIM:601076 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate |
ORPHA:2736 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Joint laxity, Mandibular prognathia, Toe syndactyly, Bicuspid aortic valve, Anteverted nares, Dep... |
OMIM:619720 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Broad-based gait, Small for gestational age, Failure to thrive in infancy, Flexion contracture, S... |
OMIM:618891 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Broad long bones, Micromelia, Micrognathia, Bowing of the legs, Hypoplastic ilia, Short neck, Fle... |
ORPHA:1865 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Gaucher Disease, Perinatal Lethal |
|
Anteverted nares, Depressed nasal bridge, Progressive neurologic deterioration, Micrognathia, Aki... |
OMIM:608013 |
Evans Syndrome |
|
Autoimmune hemolytic anemia, Epistaxis, Autoimmune thrombocytopenia, Neutropenia in presence of a... |
ORPHA:1959 |
Cartilage-Hair Hypoplasia |
|
Joint laxity, Metaphyseal dysplasia, Lumbar hyperlordosis, Narrow vertebral interpedicular distan... |
OMIM:250250 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Anteverted nares, Prominent nasal bridge, Tet... |
OMIM:612946 |
Lethal Congenital Contracture Syndrome 1 |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:253310 |
Arthrogryposis, Distal, With Impaired Proprioception And Touch |
|
Broad-based gait, Arachnodactyly, Elevated circulating creatine kinase concentration, Sandal gap,... |
OMIM:617146 |
Cardiofaciocutaneous Syndrome 3 |
|
Ventricular septal defect, Short neck, Reduced bone mineral density, Seizure, Pulmonic stenosis, ... |
OMIM:615279 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Short nose, Tented upper lip vermilion, Abnormal repetitive mannerisms, Short philtrum |
ORPHA:85277 |
Acrorenal Syndrome |
|
Hand oligodactyly |
OMIM:102520 |
Craniodigital-Intellectual Disability Syndrome |
|
Narrow nasal bridge, Finger syndactyly, Micrognathia, Short nose, Spina bifida occulta |
ORPHA:1514 |
Mosaic Trisomy 16 |
|
Syndactyly, Ventricular septal defect, Small for gestational age, Maternal diabetes, Abnormality ... |
ORPHA:1708 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
Ritscher-Schinzel Syndrome 4 |
|
Ataxia, Impulsivity, Aggressive behavior, Tapered finger, Chorea, Hip dislocation, Wide nasal bri... |
OMIM:619435 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Short stature, Myelodysplasia, Thrombocytopenia, Reticulocytopenia, Leukopenia, Rhizomelic arm sh... |
ORPHA:508542 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kinase level, Sple... |
OMIM:266200 |
Leptin Deficiency Or Dysfunction |
|
Recurrent upper respiratory tract infections, Hypogonadism, Obesity, Decreased serum leptin |
OMIM:614962 |
Non-Distal Duplication 13Q |
|
Arachnodactyly, Micrognathia, Postaxial hand polydactyly, Hernia, Cognitive impairment, Short nose |
ORPHA:1702 |
Jaberi-Elahi Syndrome |
|
Broad-based gait, Depressed nasal bridge, Bilateral tonic-clonic seizure, Joint stiffness, Inabil... |
OMIM:617988 |
Waardenburg Syndrome, Type 3 |
|
Mandibular prognathia, Scapular winging, Camptodactyly of finger, Prominent nasal bridge, Wide na... |
OMIM:148820 |
Holoprosencephaly 7 |
|
Omphalocele, Hypoplasia of the premaxilla, Flat nasal alae, Absent nasal septal cartilage, Wide n... |
OMIM:610828 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Anteverted nares, Ventricular septal defect, Choanal atresia, Micrognathia, Proximal placement of... |
OMIM:610536 |
Menkes Disease |
|
Intracranial hemorrhage, Intrauterine growth retardation, Short stature, Cutis laxa |
OMIM:309400 |
Dyskeratosis Congenita |
|
Diabetes mellitus, Recurrent fractures, Hypoplasia of the maxilla, Carious teeth, Osteoporosis, T... |
ORPHA:1775 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Bilateral tonic-clonic seizure, Broad nasal tip, Inability to walk, Wide nasal bridge, Shortening... |
OMIM:615716 |
Tyrosinemia Type 1 |
|
Splenomegaly, Hepatocellular carcinoma, Hepatomegaly |
ORPHA:882 |
Myotubular Myopathy With Abnormal Genital Development |
|
Neonatal death, Atelectasis, High palate, Death in infancy |
OMIM:300219 |
Beckwith-Wiedemann Syndrome |
|
Mandibular prognathia, Omphalocele, Inguinal hernia, Adrenocortical cytomegaly, Hypoglycemia, Pro... |
ORPHA:116 |
Silver-Russell Syndrome |
|
Precocious puberty, Cryptorchidism, Insulin resistance, Recurrent hypoglycemia, Premature adrenar... |
ORPHA:813 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Short palm, Clinodactyly of the 5th finger, Atrial septal defect, Arachnodactyly, Hyperlordosis, ... |
ORPHA:261330 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased proportion of memory B cells, B lymphocytopenia |
ORPHA:70593 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Mandibular prognathia, Broad nasal tip, Tapered finger, Short toe, Wide nasal bridge, Abnormal he... |
OMIM:239300 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Pallor, Hypochromic anemia, Erythro... |
OMIM:600462 |
Hengel-Maroofian-Schols Syndrome |
|
Bicuspid aortic valve, Foot joint contracture, Inability to walk, Wide nasal bridge, Seizure, Gai... |
OMIM:619641 |
Beemer Lethal Malformation Syndrome |
|
Wide nasal bridge |
OMIM:209970 |
Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Pancytopenia, Oropharyngeal squamous cell carcinoma, Short stature, Myelo... |
OMIM:305000 |
Melnick-Needles Syndrome |
|
Obtuse angle of mandible, Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, ... |
OMIM:309350 |
Trigonocephaly 1 |
|
Omphalocele, Craniosynostosis, Wide nasal bridge, Lumbar hemivertebrae, Metopic synostosis, Short... |
OMIM:190440 |
Phelan-Mcdermid Syndrome |
|
Broad-based gait, Sacral dimple, Ventricular septal defect, Micrognathia, Bulbous nose, Unsteady ... |
OMIM:606232 |
Amelogenesis Imperfecta |
|
Abnormality of dental color, Fragile teeth, Hypomature dental enamel, Enamel hypomineralization, ... |
ORPHA:88661 |
Neuhauser Syndrome |
|
Osteopenia, Depressed nasal bridge, Ataxia, Arachnodactyly, Micrognathia, Wide nasal bridge, Genu... |
OMIM:249310 |
Fetal Gaucher Disease |
|
Pancytopenia, Abnormality of the spleen, Splenomegaly, Intracranial hemorrhage, Stillbirth, Neona... |
ORPHA:85212 |
Steel Syndrome |
|
Lumbar hyperlordosis, Anteverted nares, Hip dislocation, Wide nasal bridge, Coxa vara, Clinodacty... |
OMIM:615155 |
Cortical Dysplasia, Complex, With Other Brain Malformations 12 |
|
Prominent metopic ridge, Femoral hernia, Wide nasal bridge, Seizure, Scoliosis, Clinodactyly |
OMIM:620316 |
Primary Angiitis Of The Central Nervous System |
|
Intracranial hemorrhage, Stroke, Transient ischemic attack, Cerebral vasculitis |
ORPHA:140989 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Wide nose, Osteomyelitis, Eosinophilia, Micrognathia, Increased circulating IgE level, Spinal can... |
OMIM:618282 |
Noonan Syndrome 7 |
|
Depressed nasal bridge, Large for gestational age, Short neck, Seizure, Deep palmar crease, Cogni... |
OMIM:613706 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diabetes mellitus, Ventricular septal defect, Ataxia, Situs inversus totalis, Cardiomyopathy, Sei... |
OMIM:249270 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Micrognathia, Maternal diabetes, Hemivertebrae, ... |
OMIM:134780 |
Takenouchi-Kosaki Syndrome |
|
Inguinal hernia, Ataxia, Overlapping toe, Proximal placement of thumb, Tapered finger, Bulbous no... |
OMIM:616737 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Ventricular septal defect, Prominent nasal bridge, Bulbous nose, Wide nasal bridge, Generalized n... |
OMIM:617360 |
Neurofibromatosis Type 1 |
|
Astrocytoma, Short stature, Chronic myelogenous leukemia, Multiple lipomas, Neoplasm, Pheochromoc... |
ORPHA:636 |
Loeys-Dietz Syndrome 5 |
|
Osteoarthritis, Bilateral coxa valga, Atrial septal defect, Patent foramen ovale, Scapular wingin... |
OMIM:615582 |
Pallister-Killian Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Congenital diaphragmatic hernia, Mic... |
OMIM:601803 |
Hurler Syndrome |
|
Progressive neurologic deterioration, Short neck, Metaphyseal widening, Flexion contracture, Hern... |
OMIM:607014 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Epileptic spasm, Small for gestational age, Bilateral tonic-clonic seizure, Focal-onset seizure, ... |
ORPHA:289266 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Generalized-onset seizure, Single transverse palmar crease, Rocker bottom foot, Micrognathia, Pos... |
OMIM:617527 |
Myelocytic Leukemia-Like Syndrome, Familial, Chronic |
|
Chronic myelogenous leukemia |
OMIM:600080 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Pericardial effusion, Small hand, Wide nasal bridge, Broad finger, Clinodactyly, Short phalanx of... |
OMIM:614684 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Seizure, Depressed nasal bridge, Wide nasal bridge |
OMIM:264470 |
Mucopolysaccharidosis, Type Vii |
|
Spatulate ribs, Short neck, Flexion contracture, Pectus carinatum, Narrow greater sciatic notch, ... |
OMIM:253220 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Hallux valgus, Inguinal hernia, Abnormal heart valve morphology, Sandal gap, Recurrent shoulder d... |
ORPHA:230851 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Short stature, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holopro... |
ORPHA:1908 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Enlarged polycystic ovaries, Crypto... |
ORPHA:91 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Br... |
OMIM:614207 |
Omodysplasia 2 |
|
Short humerus, Depressed nasal bridge, Micrognathia, Bifid nasal tip, Anterior wedging of T11, Wi... |
OMIM:164745 |
Alagille Syndrome |
|
Hypoplasia of the ulna, Ventricular septal defect, Micrognathia, Long nose, Spina bifida occulta,... |
ORPHA:52 |
Hypohidrotic Ectodermal Dysplasia |
|
Sinusitis, Anteverted nares, Hypoplasia of the maxilla, Cognitive impairment, Failure to thrive |
ORPHA:238468 |
Antley-Bixler Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Joint stiffness, ... |
ORPHA:83 |
Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Inguinal hernia, Prominent metopic ridge, Prominent nasal bridge, Secundum atrial septal defect, ... |
OMIM:618109 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Microretrognathia, Inguinal hernia, Abnormal heart valve morphology, Decreased palmar creases, Cr... |
ORPHA:2953 |
Abeta Amyloidosis, Italian Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:324713 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Juvenile myelomonocytic leukemia, Short stature, Postnatal growth retardation, Splenomegaly, Hepa... |
OMIM:613563 |
Tricho-Dento-Osseous Syndrome |
|
Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Agenesis of incisor, Fin... |
ORPHA:3352 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Mandibular prognathia, Single transverse palmar crease, Clinodactyly of the 5th finger, Atrial se... |
ORPHA:459070 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Joint laxity, Broad toe, Ventricular septal defect, Depressed nasal bridge, Rocker bottom foot, S... |
OMIM:612582 |
Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Long toe, Febrile seizure outside the age of 3 months to 6 years, Wide nasal bridge, Talipes equi... |
OMIM:617788 |
Lopes-Maciel-Rodan Syndrome |
|
Unsteady gait, Small hand, Bruxism, Short foot, Agitation, Dysphagia, Abnormal repetitive mannerisms |
OMIM:617435 |
Macrocephaly-Developmental Delay Syndrome |
|
Mandibular prognathia, Microretrognathia, Wide nasal bridge, Self-injurious behavior, High palate... |
ORPHA:397612 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Finger syndactyly, Brachydactyly, Short neck, Hyperlordosis, Wide nasal br... |
ORPHA:710 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy, Pallor |
OMIM:612989 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Hyperactivity, Aggressive behavior, Broad nasal tip, 2-3 toe syndactyly, Self-biting, High palate... |
ORPHA:3306 |
Legius Syndrome |
|
Short stature, Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tum... |
ORPHA:137605 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Single transverse palmar crease, Bilateral si... |
OMIM:244300 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Thrombocytopenia, Splen... |
OMIM:278000 |
Glutamine Deficiency, Congenital |
|
Depressed nasal bridge, Anteverted nares, Micromelia, Flexion contracture, Wide nasal bridge, Sei... |
OMIM:610015 |
Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Short stature, Abdominal adhesions, Neoplasm of the skin, Neutropenia, Intrauterine ... |
OMIM:616395 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Splenomegaly, Short stature, Hepatomegaly |
ORPHA:2204 |
Sneddon Syndrome |
|
Cerebral hemorrhage, Hypertension, Stroke, Ischemic stroke, Lymphopenia |
OMIM:182410 |
Tatton-Brown-Rahman Syndrome |
|
Anteverted nares, Ventricular septal defect, Sagittal craniosynostosis, Seizure, Short columella,... |
OMIM:615879 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Depressed nasal bridge, Decreased respon... |
OMIM:614732 |
Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Anteverted nares, Short... |
ORPHA:1517 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Peritonitis, Recurrent tonsilliti... |
ORPHA:2686 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Depressed nasal bridge, Arachnodactyly, Kyphoscoliosis, Metatarsus adductus, Recurrent upper resp... |
OMIM:612513 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Spina bifida occulta, Subdural hemorrhage |
OMIM:618291 |
Hepatoportal Sclerosis |
|
Portal hypertension, Nodular regenerative hyperplasia of liver, Hypersplenism, Splenomegaly, Port... |
ORPHA:64743 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... |
ORPHA:216694 |
Thrombocythemia 1 |
|
Splenomegaly, Thrombocytosis |
OMIM:187950 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Contracture of the proximal interphalangeal join... |
OMIM:620141 |
Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Mandibular prognathia, Metaphyseal dysplasia, Abnormal nasopharynx morphology, Flared metaphysis,... |
OMIM:218400 |
Intellectual Developmental Disorder, Autosomal Recessive 72 |
|
Narrow nasal base, Wide nasal ridge, Prominent nose, Secundum atrial septal defect, Broad nasal t... |
OMIM:618665 |
Familial Multiple Nevi Flammei |
|
Pulmonary embolism, Venous insufficiency, Skin ulcer, Intracranial hemorrhage, Arteriovenous malf... |
ORPHA:624 |
Noonan Syndrome 11 |
|
Depressed nasal bridge, Bulbous nose, Pulmonic stenosis, Palmoplantar cutis laxa, Atrial septal d... |
OMIM:618499 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Follicular hyperplasia, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm |
OMIM:240500 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Omphalocele, Inguinal hernia, Abnormal pelvis bone morphology, Abnormal dental enamel morphology,... |
ORPHA:2273 |
Neuraminidase Deficiency |
|
Hepatomegaly, Short stature, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymph... |
OMIM:256550 |
Distal Triplication 15Q |
|
Arachnodactyly, Craniosynostosis, Micrognathia, Large for gestational age, Kyphosis, Flexion cont... |
ORPHA:314588 |
Ohdo Syndrome |
|
Joint laxity, Depressed nasal bridge, Anteverted nares, Micrognathia, Wide nasal bridge, Hypoplas... |
OMIM:249620 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Thin upper lip vermilion, Tented upper lip vermilion, Impaired pain sensation, Gait ataxia, High ... |
OMIM:616579 |
Atelosteogenesis, Type Ii |
|
Death in infancy, Stillbirth, Pulmonary hypoplasia, Cleft palate |
OMIM:256050 |
Congenital Diaphragmatic Hernia |
|
Intestinal malrotation, Pulmonary hypoplasia |
ORPHA:2140 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Descending thoracic aorta aneurysm, Abnormal left ventricular function, Abdominal aortic aneurysm... |
ORPHA:91387 |
Trisomy 8P |
|
Short fourth metatarsal, Multiple joint contractures, Abnormal atrioventricular connection, Singl... |
ORPHA:264450 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Hyperextensibility of the finger joints, Inguinal hernia, Osteoarthritis, Cigarette-paper scars, ... |
OMIM:130000 |
Noonan Syndrome 2 |
|
Patent ductus arteriosus, Leukemia, Short stature |
OMIM:605275 |
Congenital Gerbode Defect |
|
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu... |
ORPHA:99095 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Congenital diaphragmatic hernia, Atrial septal defect, Anteverted nares, Broad hallux, Tapered fi... |
OMIM:301044 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Bicuspid aortic valve, Ventricular septal defect, Anteverted nares, Micrognathia, Bifid nasal tip... |
OMIM:619343 |
Waardenburg Syndrome Type 3 |
|
Narrow nasal bridge, Atrial septal defect, Camptodactyly of finger, Joint stiffness, Abnormal fin... |
ORPHA:896 |
Hypomandibular Faciocranial Dysostosis |
|
Anteverted nares, Craniosynostosis, Choanal stenosis, Cognitive impairment, Atrial septal defect,... |
ORPHA:1790 |
Xylt1-Cdg |
|
Joint laxity, Joint dislocation, Short stature, Coxa valga, Flared metaphysis, Growth delay, Shor... |
ORPHA:370930 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Depression, Dementia, Progressive language deterioration, Cognitive impairment, Dysphagia, Loss o... |
ORPHA:79264 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Limited hip extension, Short neck, Flexion contracture, Tibial bowing, Irregular vertebral endpla... |
OMIM:143095 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the knee, Short stature, Short neck, Missing ribs, Abnormal rib morphology, Abnorm... |
ORPHA:1834 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Anencephaly, Spina bifida |
ORPHA:2476 |
Stevenson-Carey Syndrome |
|
Anteverted nares, Underdeveloped nasal alae, Seizure, Hip dysplasia, Scoliosis, Camptodactyly, At... |
OMIM:611961 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Caudal Duplication |
|
Myelomeningocele, Spinal cord lesion, Spina bifida |
ORPHA:1756 |
Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Micrognathia, Abnormal form of the vert... |
ORPHA:280 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
Cerebral Cavernous Malformations 3 |
|
Cerebral cavernous malformation, Cerebral hemorrhage |
OMIM:603285 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Liang-Wang Syndrome |
|
Ataxia, Generalized non-motor (absence) seizure, Wide nasal bridge, Status epilepticus, Macrodont... |
OMIM:618729 |
Common Variable Immunodeficiency |
|
Hemolytic anemia, Failure to thrive in infancy, Autoimmune thrombocytopenia, Gastrointestinal str... |
ORPHA:1572 |
Intellectual Developmental Disorder, Autosomal Recessive 45 |
|
Bulbous nose, Retrognathia, Anteverted nares, Wide nasal bridge |
OMIM:615979 |
Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Disseminated cutaneous warts, Weight loss, Abnormal lymphatic vessel morphol... |
ORPHA:90362 |
Chromosome 16P13.3 Duplication Syndrome |
|
Proximal placement of thumb, Micrognathia, Short neck, Atrial septal defect, Anteverted nares, De... |
OMIM:613458 |
Osteopetrosis, Autosomal Dominant 3 |
|
Splenomegaly, Anemia, Hepatomegaly |
OMIM:618107 |
Developmental And Epileptic Encephalopathy 6B |
|
Ataxia, Inability to walk, Chorea, Choreoathetosis, Narrow mouth, Abnormal repetitive mannerisms |
OMIM:619317 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Depressed nasal bridge, Decreased circulating antibody level, Agammaglobulinemia, Polydactyly, In... |
OMIM:616910 |
Simpson-Golabi-Behmel Syndrome |
|
Mandibular prognathia, Congenital hip dislocation, Congenital diaphragmatic hernia, Short neck, V... |
ORPHA:373 |
Immunodeficiency 43 |
|
Lung abscess, B lymphocytopenia, Reduced natural killer cell count |
OMIM:241600 |
Houge-Janssens Syndrome 3 |
|
Inguinal hernia, Bilateral tonic-clonic seizure, Single transverse palmar crease, Bilateral tonic... |
OMIM:618354 |
Koolen-De Vries Syndrome |
|
Bicuspid aortic valve, Prominent fingertip pads, Atrial septal defect, Vertebral fusion, Prominen... |
OMIM:610443 |
Cerebellar-Facial-Dental Syndrome |
|
Inguinal hernia, Foot joint contracture, Ventricular septal defect, Anteverted nares, Micrognathi... |
ORPHA:444072 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Depressed nasal bridge, Bilateral tonic-clonic seizure, Infantile spasms, Underdeveloped nasal al... |
ORPHA:457351 |
Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... |
ORPHA:94080 |
Methanol Poisoning |
|
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... |
ORPHA:31825 |
Bronchogenic Cyst |
|
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Abnormal stomach morphology, Atelectasis, ... |
ORPHA:2357 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Wide nose, Prominent metopic ridge, Duplication of thumb phalanx, Micrognathia, Prominent nose, J... |
ORPHA:2995 |
Woods Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, 3-4 finger cutaneous syndactyly, Wide... |
OMIM:615236 |
Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:35909 |
Distal Deletion 15Q |
|
Bicuspid aortic valve, Single transverse palmar crease, Congenital diaphragmatic hernia, Microgna... |
ORPHA:1596 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Abnormal morphology of ulna, Short neck, Obesity, Mitral valve prolapse, Hypogonadism, Abnormal m... |
ORPHA:2233 |
Tumor Predisposition Syndrome 4 |
|
Glioma, Meningioma, Breast carcinoma, Sarcoma |
OMIM:609265 |
Intellectual Developmental Disorder With Autism And Macrocephaly |
|
Overweight, Seizure, Wide nose, Wide nasal bridge |
OMIM:615032 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Pallor |
OMIM:611590 |
3Q29 Microduplication Syndrome |
|
Toe syndactyly, Ventricular septal defect, Sandal gap, Craniosynostosis, Short neck, Large fontan... |
ORPHA:251038 |
Central Core Disease |
|
Joint laxity, Multiple joint contractures, Congenital hip dislocation, Elevated circulating creat... |
ORPHA:597 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Microretrognathia, Inguinal hernia, Ataxia, Small for gestational age, Anteverted nares, Wide nas... |
OMIM:614052 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Ventricular septal defect, Elevated circulating creatine kinase concentration, Postaxial polydact... |
OMIM:614576 |
Factor Vii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su... |
OMIM:227500 |
Monosomy 13Q34 |
|
Insulin resistance, Hepatic steatosis |
ORPHA:96168 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Megaloblastic anemia, Increased mean corpuscular volume, Pallor, Thrombocytopenia |
OMIM:613839 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatocellular carcinoma, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated prop... |
ORPHA:3261 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Intestinal lymphangiectasia, Lymphopenia |
OMIM:207731 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Growth delay, Failure... |
OMIM:617388 |
Harderoporphyria |
|
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice |
OMIM:618892 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, B lymphocytopenia, Bone marrow hypocellularity, Intrauterine growth retardation, Re... |
OMIM:620133 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Short neck, Obesity, Mitral valve prolapse, Cubitus valgus, Abnor... |
ORPHA:2183 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema |
OMIM:614100 |
Van Esch-O'Driscoll Syndrome |
|
Sacral dimple, Ventricular septal defect, Hypogonadotropic hypogonadism, Depressed nasal bridge, ... |
OMIM:301030 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Wide nose, Insulin resistance, Hyperinsulinemia, Central hyp... |
ORPHA:508 |
Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology, Abnormal vertebral morphology |
ORPHA:280195 |
4Q21 Microdeletion Syndrome |
|
Toe syndactyly, Depressed nasal bridge, Abnormality of the dentition, Small hand, Short foot, Sel... |
ORPHA:238750 |
Li-Campeau Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, Patent foramen ovale, Patellar hypopl... |
OMIM:619189 |
Holt-Oram Syndrome |
|
Syndactyly, Thoracic scoliosis, Hypoplasia of the ulna, Short humerus, Abnormal vertebral morphol... |
OMIM:142900 |
Acrofacial Dysostosis, Catania Type |
|
Microretrognathia, Finger syndactyly, Inguinal hernia, Brachydactyly, Carious teeth, Small hand, ... |
ORPHA:1786 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
15Q14 Microdeletion Syndrome |
|
Inguinal hernia, Ventricular septal defect, Prominent nasal bridge, Kyphosis, Seizure, Scoliosis,... |
ORPHA:261190 |
Thoraco-Abdominal Enteric Duplication |
|
Diastomatomyelia, Meningocele |
ORPHA:1759 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... |
OMIM:616278 |
Osteogenesis Imperfecta |
|
Osteopenia, Abnormality of dental color, Convex nasal ridge, Micromelia, Micrognathia, Cervical k... |
ORPHA:666 |
Rett Syndrome, Congenital Variant |
|
Thin upper lip vermilion, Depressed nasal bridge, Bulbous nose, Tongue thrusting, Chorea, Athetos... |
OMIM:613454 |
Kleefstra Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Bicuspid aortic valve, Ventricular septal defec... |
ORPHA:261494 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Hiatus hernia, Overweight, Persistence of primary teeth, Recurrent upp... |
OMIM:619769 |
Arthrogryposis Multiplex Congenita 5 |
|
Micrognathia, Short neck, Flexion contracture, Anteverted nares, Wide nasal bridge, Prominent nas... |
OMIM:618947 |
Wilson Disease |
|
Hepatomegaly, Splenomegaly, Jaundice, Increased body weight, Hepatitis, Weight loss, Anemia, Cirr... |
ORPHA:905 |
Cronkhite-Canada Syndrome |
|
Hepatomegaly, Cachexia, Splenomegaly, Hamartomatous polyposis, Neoplasm, Anemia |
ORPHA:2930 |
Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia, Adrenocortical adenoma |
ORPHA:681 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Micrognathia, Flexion contracture, Palmoplantar hyperkeratosis, Glucose intolerance, ... |
OMIM:619127 |
Renpenning Syndrome |
|
Severe short stature, Joint stiffness, Pectus excavatum, Abnormal thumb morphology, Abnormal rib ... |
ORPHA:3242 |
Atelosteogenesis, Type I |
|
Micrognathia, Short neck, Short metatarsal, Tibial bowing, Neonatal death, Vertebral hypoplasia, ... |
OMIM:108720 |
Mosaic Trisomy 9 |
|
Micromelia, Micrognathia, Short neck, Hemivertebrae, Finger clinodactyly, Endocardial fibroelasto... |
ORPHA:99776 |
Chromosome 5P13 Duplication Syndrome |
|
Small for gestational age, Single transverse palmar crease, Craniosynostosis, Long fingers, Bulbo... |
OMIM:613174 |
Simple Cryoglobulinemia |
|
Viral hepatitis, B-cell lymphoma, Weight loss, Chronic lymphatic leukemia, Multiple myeloma, Mono... |
ORPHA:91139 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, Intercrur... |
OMIM:265000 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Clinodactyl... |
OMIM:210720 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Tented upper lip vermilion, Ataxia, Depressed nasal bridge, Aggressive behavior, Hair-pulling, Do... |
OMIM:616393 |
9Q21.13 Microdeletion Syndrome |
|
Craniosynostosis, Postnatal growth retardation, Hip dysplasia, Vertebral segmentation defect, Pol... |
ORPHA:531151 |
Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Ventricular septal defect |
OMIM:253300 |
Mulibrey Nanism |
|
Intrauterine growth retardation, Wide nasal bridge, Cachexia |
ORPHA:2576 |
Idiopathic Bronchiectasis |
|
Respiratory tract infection, Emphysema, Bronchiectasis, Acute infectious pneumonia, Recurrent low... |
ORPHA:60033 |
Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Syringomyelia |
OMIM:207950 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
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Omphalocele, Inguinal hernia, Ventricular septal defect, Anteverted nares, Congenital diaphragmat... |
OMIM:618454 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal T cell morphology, Neoplasm, D... |
ORPHA:760 |
Microphthalmia, Syndromic 2 |
|
2-3 toe cutaneous syndactyly, Oligodontia, Fused teeth, Contracture of the proximal interphalange... |
OMIM:300166 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia, Esopha... |
ORPHA:3348 |
Spinocerebellar Ataxia 47 |
|
Ataxia, Tapered finger, Small hand, Wide nasal bridge, Dysmetria, Seizure, Clinodactyly |
OMIM:617931 |
Ohdo Syndrome, X-Linked |
|
Inguinal hernia, Ulnar deviation of the hand, Depressed nasal bridge, Overlapping toe, Hiatus her... |
OMIM:300895 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
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Hallux valgus, Ventricular septal defect, Camptodactyly of finger, Decreased response to growth h... |
OMIM:602782 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
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Joint laxity, Infantile spasms, Seizure, Status epilepticus, Focal impaired awareness seizure, At... |
ORPHA:500533 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
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Diastema, Agenesis of molar, Supernumerary tooth, Anosmia, Microdontia |
OMIM:619718 |
Holoprosencephaly 9 |
|
Depressed nasal bridge, Hypoplasia of the premaxilla, Decreased response to growth hormone stimul... |
OMIM:610829 |
Farber Lipogranulomatosis |
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Splenomegaly, Lipogranulomatosis, Failure to thrive, Hepatomegaly |
OMIM:228000 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
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Depressed nasal bridge, Anosmia, Epiphyseal stippling, Abnormality of the vertebral column, Hypog... |
OMIM:302950 |
Omodysplasia 1 |
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Micrognathia, Short neck, Limited elbow flexion, Atrial septal defect, Short tibia, Depressed nas... |
OMIM:258315 |
Trisomy 18 |
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Microretrognathia, Omphalocele, Ventricular septal defect, Camptodactyly of finger, Cachexia, Con... |
ORPHA:3380 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Decreased serum testosterone concentration, Hypogonadotropic hy... |
ORPHA:465508 |
Robinow Syndrome, Autosomal Dominant 2 |
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Brachydactyly, Sacral dimple, Anteverted nares, Depressed nasal bridge, Kyphoscoliosis, Micrognat... |
OMIM:616331 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
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Hyperactivity, Arachnodactyly, Chorea, Attention deficit hyperactivity disorder, Recurrent hand f... |
OMIM:617600 |
Gand Syndrome |
|
Long toe, Long fingers, Wide nasal bridge, Broad nasal tip |
OMIM:615074 |
Pfapa Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Weight loss |
ORPHA:42642 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Ventricular septal defect, Hand polydactyly, Pulmonic stenosis, Atrial septal defect, Abnormal 3r... |
OMIM:249670 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Wide nose, Prominent nasal bridge, Micrognathia, Prom... |
ORPHA:85201 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Camptodactyly of finger, Micrognathia, Limitation of joint mobility, Symphalangism affecting the ... |
ORPHA:2547 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Short stature, Anisocytosis, Abnormal erythrocyte morphology, Post-partum hemorrhage, Melena, Inc... |
ORPHA:98870 |
Craniofaciofrontodigital Syndrome |
|
Osteopenia, Joint laxity, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve ... |
ORPHA:363705 |
Costello Syndrome |
|
Failure to thrive in infancy, Abnormal dental enamel morphology, Ventricular septal defect, Depre... |
ORPHA:3071 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Slender build, Elevated circulating creatine kinase concentration, Hyperlordosis, Shoulder girdle... |
OMIM:615156 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Prominent nasal bridge, Hand oligodactyly, Fibular hypoplas... |
ORPHA:1788 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Anteverted nares, Micrognathia, Wide nasal bridge, Seizure, Hypocholesterolemia, Neonatal death, ... |
OMIM:618810 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Mandibular prognathia, Prominent metopic ridge, Depressed nasal bridge, Kyphosis, Bulbous nose, S... |
ORPHA:261144 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Microretrognathia, Short nose, Postaxial hand polydactyly, Cachexia |
ORPHA:1389 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, Proximal placement of thumb, Abnormal thu... |
ORPHA:1120 |
Fetal Akinesia Deformation Sequence 2 |
|
Flexion contracture, Wide nasal bridge, Micrognathia |
OMIM:618388 |
Mucopolysaccharidosis, Type Iiia |
|
Thickened ribs, Joint stiffness, Ovoid thoracolumbar vertebrae, Scoliosis, Dense calvaria |
OMIM:252900 |
Nevus Comedonicus Syndrome |
|
Spina bifida occulta, Spina bifida |
ORPHA:64754 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Seizure, Short nose, Ataxia |
ORPHA:833 |
Eiken Syndrome |
|
Short stature, Broad femoral neck, Delayed epiphyseal ossification, Long thumb, Flat acetabular r... |
OMIM:600002 |
Tetrasomy 18P |
|
Seizure, Large hands, Gait disturbance, Scoliosis, Short nose |
ORPHA:3307 |
Warburg Micro Syndrome 3 |
|
Bilateral tonic-clonic seizure, Kyphoscoliosis, Micrognathia, Inability to walk, Flexion contract... |
OMIM:614222 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Progressive neurologic deterioration, Micrognathia, Prominent no... |
OMIM:210710 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Zechi-Ceide Syndrome |
|
Wide nose, Sandal gap, Underdeveloped nasal alae, Short metatarsal, Wide nasal bridge, Malar flat... |
OMIM:612916 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Osteopenia, Prominent metopic ridge, Bicuspid aortic valve, Ventricular septal defect, Craniosyno... |
ORPHA:453499 |
Cyclic Vomiting Syndrome |
|
Growth delay, Cardiomyopathy, Pallor |
OMIM:500007 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Joint laxity, Broad-based gait, Overriding aorta, Bicuspid aortic valve, Failure to thrive in inf... |
ORPHA:477817 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Short stature, Splenomegaly, Growth delay, Increased hepatic glycogen content |
OMIM:261750 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Reduced subcutaneous adipose tissue, Inguinal hernia, Hypoplastic right heart, Kyphoscoliosis, Bu... |
OMIM:617403 |
Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral f... |
OMIM:272460 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Motor deterioration, Dementia, Gai... |
ORPHA:168491 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... |
OMIM:300908 |
Icf Syndrome |
|
Anemia, Lymphopenia, Short stature, Abnormality of neutrophils |
ORPHA:2268 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Ataxia, Confusion, Agitation, Cognitive impairment, Emotional lability, Abnormal repetitive manne... |
ORPHA:927 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Decreased serum insulin-like growth factor 1, Rhizomelia, Elbow contracture, Allergic rhinitis, U... |
OMIM:618162 |
Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Abnormal nostril morphology, Ventricular septal defect, Abnormal morphology... |
ORPHA:3469 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Neoplasm of the adrenal cortex, Wide nose, Hypoglycemia, Anteverted nares, Cachexia, Micrognathia... |
ORPHA:109 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia |
OMIM:614979 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Splenomegaly, Hepatitis, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Ab... |
ORPHA:158061 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Postnatal growth retardation, Leukopenia, Bone marrow hypocellularity, Intrauterine growth retard... |
OMIM:615190 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... |
OMIM:313500 |
Infant Acute Respiratory Distress Syndrome |
|
Respiratory tract infection, Atelectasis, Pneumonia, Pulmonary edema |
ORPHA:70587 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... |
OMIM:617237 |
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome |
|
Mandibular prognathia, Cubitus valgus, Large fontanelles, Wide nasal bridge, Genu valgum, Joint h... |
ORPHA:1778 |
Orofaciodigital Syndrome Xix |
|
Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Downturned corners of m... |
OMIM:620107 |
Fragile X Syndrome |
|
Joint laxity, Mandibular prognathia, Sinusitis, Mitral valve prolapse, Seizure, Attention deficit... |
ORPHA:908 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis |
OMIM:618042 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Prominent nasal bridge, Wide nasal bridge, Seizure, Scoliosis, Febrile seizure (within the age ra... |
OMIM:619179 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Hyperglycemia, Hypergonadotropic hypogonadism |
OMIM:619737 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Broad-based gait, Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Micrognath... |
ORPHA:513456 |
Noonan Syndrome 5 |
|
Mandibular prognathia, Depressed nasal bridge, Large for gestational age, Short neck, Pulmonic st... |
OMIM:611553 |
Acromesomelic Dysplasia 1 |
|
Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me... |
OMIM:602875 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Brachydactyly, Hypogonadotropic hypogonadism, Joint stiffness, Anosmia, Genu valgum, Hypoplasia o... |
ORPHA:1295 |
Bohring-Opitz Syndrome |
|
Prominent metopic ridge, Anteverted nares, Depressed nasal bridge, Ulnar deviation of the wrist, ... |
ORPHA:97297 |
Renal Tubular Dysgenesis |
|
Pulmonary hypoplasia |
ORPHA:3033 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Cyanosis, Small for gestational age, Ventricular septal ... |
ORPHA:860 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Generalized non-motor (absence) seizure, Wide nasal bridge, Obesity, Bilateral talipes equinovaru... |
OMIM:616521 |
Developmental And Epileptic Encephalopathy 102 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized myoc... |
OMIM:619881 |
Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, Pineal cyst, Short 4th toe, Atrial septal ... |
OMIM:615873 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Anteverted nares, Ventricular septal defect, Bulbous nose, Wide nasal bridge, Seizure, Short 5th ... |
OMIM:220500 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares... |
OMIM:612394 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Broad-based gait, Anteverted nares, 2-3 toe syndactyly, Short foot, Widely spaced teeth, Bruxism,... |
OMIM:616351 |
Werner Syndrome |
|
Insulin resistance, Ovarian neoplasm, Thyroid carcinoma, Hypogonadism, Type II diabetes mellitus,... |
ORPHA:902 |
Sialidosis Type 1 |
|
Ataxia, Kyphosis, Wide nasal bridge, Abnormal form of the vertebral bodies, Seizure, Gait disturb... |
ORPHA:812 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Aplasia of the phalanges of the 3rd toe, Hypergonadotropic hypogonadism, Precocious puberty, Dila... |
ORPHA:2229 |
Alpha-1-Antitrypsin Deficiency |
|
Emphysema |
ORPHA:60 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Joint laxity, Sacral dimple, Depressed nasal bridge, Abnormality of thyroid physiology, Choanal a... |
OMIM:300968 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... |
ORPHA:35078 |
Faciocardiomelic Syndrome |
|
Osteopenia, Anteverted nares, Depressed nasal bridge, Micrognathia, Large for gestational age, Cu... |
OMIM:612731 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Failure to thrive, Wide nose, Small for gestational age, Hypoglycemia, Rhizomelia,... |
OMIM:607143 |
Wyburn-Mason Syndrome |
|
Peripheral arteriovenous fistula, Epistaxis, Abnormal cerebral vascular morphology, Cerebral hemo... |
ORPHA:53719 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Anteverted nares, Micrognathia, Bifid distal phalanx of the thumb, Cli... |
ORPHA:2209 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Metaphyseal chondrodysplasi... |
ORPHA:93317 |
Craniopharyngioma |
|
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Abnormal nasal bone morphology, Neoplasm... |
ORPHA:54595 |
Neonatal Marfan Syndrome |
|
Long toe, Small for gestational age, Lipoatrophy, Arachnodactyly, Micrognathia, Long fingers, Abn... |
ORPHA:284979 |
Whipple Disease |
|
Splenomegaly, Hepatomegaly, Insulin resistance, Hypothyroidism |
ORPHA:3452 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Postn... |
ORPHA:288 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Mandibular prognathia, Sandal gap, Impulsivity, Aggressive behavior, Micrognathia, 2-3 toe syndac... |
OMIM:618914 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Splenomegaly, Macrocytic anemia, Failure to thrive |
OMIM:619046 |
Pancreatic And Cerebellar Agenesis |
|
Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Joint stiffness, Secundum a... |
OMIM:609069 |
Majeed Syndrome |
|
Hepatomegaly, Cachexia, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Hypochromic mi... |
ORPHA:77297 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Death in infancy, Nonspecific interstitial pneumonia, Crazy paving pattern, Nodular pattern on pu... |
OMIM:610921 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:615812 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:276422 |
Cutis Laxa, Autosomal Dominant 3 |
|
Osteopenia, Joint laxity, Os odontoideum, Postnatal growth retardation, Hip dislocation, Talipes ... |
OMIM:616603 |
Abruzzo-Erickson Syndrome |
|
Toe syndactyly, Short toe, Ulnar deviation of finger, Radioulnar synostosis, Atrial septal defect... |
ORPHA:921 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Mandibular prognathia, Seizure, Short nose, Joint hypermobility |
OMIM:300143 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Mullegama-Klein-Martinez Syndrome |
|
Depressed nasal bridge, Congenital diaphragmatic hernia, Micrognathia, Prominent nose, Bulbous no... |
OMIM:301022 |
Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
Occipital Horn Syndrome |
|
Joint laxity, Short humerus, Persistent open anterior fontanelle, Pelvic bone exostoses, Broad cl... |
OMIM:304150 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Myelodysplasia, Hepatic necrosis, Anemia, Leukopenia, Increased mean corpuscular... |
OMIM:127550 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Ventricular septal defect, Overlapping toe, Avascular necrosis of the capital femoral epiphysis, ... |
OMIM:614262 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Prominent nasal bridge, Inability to walk, Wide mouth, Widely spaced te... |
OMIM:619877 |
Cog5-Cdg |
|
Camptodactyly of finger, Prominent nose, Short neck, Retrognathia, Wide nasal bridge, Genu valgum... |
ORPHA:263487 |
Pgm3-Cdg |
|
Hemolytic anemia, Failure to thrive, Abnormal proportion of CD8-positive T cells, Eosinophilia, S... |
ORPHA:443811 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Leukopenia, Gingiv... |
ORPHA:99828 |
Desmosterolosis |
|
Increased bone mineral density, Depressed nasal bridge, Micromelia, Micrognathia, Abnormality of ... |
ORPHA:35107 |
1Q41Q42 Microdeletion Syndrome |
|
Submucous cleft hard palate, Thick vermilion border, Pulmonary hypoplasia, Cleft palate |
ORPHA:250999 |
Bencze Syndrome |
|
Open bite, Submucous cleft hard palate |
ORPHA:1241 |
Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Atelectasis, Bron... |
ORPHA:79126 |
Schimke Immuno-Osseous Dysplasia |
|
Failure to thrive, Non-Hodgkin lymphoma, Lymphoproliferative disorder, Small for gestational age,... |
ORPHA:1830 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Short 3rd toe, Tapered finger, Short thumb, Muscular ventricular septal defect, Split hand, Wide ... |
OMIM:618569 |
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after dental extraction, Epi... |
ORPHA:465 |
Juvenile Xanthogranuloma |
|
Myeloproliferative disorder |
ORPHA:158000 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Osteopenia, Single transverse palmar crease, Micrognathia, Flexion contracture, Dislocated radial... |
OMIM:130070 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Growth delay, ... |
OMIM:616084 |
15Q Overgrowth Syndrome |
|
Mandibular prognathia, Microretrognathia, Contracture of the proximal interphalangeal joint of th... |
ORPHA:314585 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... |
OMIM:235700 |
Marbach-Rustad Progeroid Syndrome |
|
Insulin resistance |
OMIM:619322 |
Autosomal Dominant Omodysplasia |
|
Short humerus, Depressed nasal bridge, Rhizomelia, Micrognathia, Elbow dislocation, Short palm, M... |
ORPHA:93328 |
Opsismodysplasia |
|
Abnormally ossified vertebrae, Depressed nasal bridge, Joint stiffness, Tapered finger, Squared i... |
ORPHA:2746 |
20Q13.33 Microdeletion Syndrome |
|
Hallux valgus, Sacral dimple, Small for gestational age, Failure to thrive in infancy, Tapered fi... |
ORPHA:261311 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Thick nasal alae, Micrognathia, Seizure, Short nose, Retrognathia |
ORPHA:163961 |
Prune Belly Syndrome |
|
Congenital hip dislocation, Pectus excavatum, Abnormal rib morphology, Vertebral segmentation def... |
ORPHA:2970 |
Mosaic Trisomy 8 |
|
Short stature, Camptodactyly of finger, Short neck, Limitation of joint mobility, Abnormal rib mo... |
ORPHA:96061 |
Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele |
ORPHA:101030 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Acute hepatic failure, Hyperglycemia, Hypoglycemia, Elevated hepatic transaminase |
OMIM:615453 |
Kaufman Oculocerebrofacial Syndrome |
|
Congenital hip dislocation, Ventricular septal defect, Anteverted nares, Depressed nasal bridge, ... |
OMIM:244450 |
Microform Holoprosencephaly |
|
Narrow nasal bridge, Anteverted nares, Choanal atresia, Maternal diabetes, Midnasal stenosis, Pan... |
ORPHA:280200 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Abnormal nasopharynx morphology, Increased density of long bones, Single transverse palmar crease... |
OMIM:269150 |
Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Split-Hand/Foot Malformation 1 |
|
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact... |
OMIM:183600 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... |
ORPHA:3464 |
Peho Syndrome |
|
Tapered finger, Seizure, Myoclonus, Short nose, Retrognathia |
OMIM:260565 |
Dubowitz Syndrome |
|
Aplastic anemia, Short stature, Postnatal growth retardation, Lymphoma, Acute lymphoblastic leuke... |
OMIM:223370 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Microretrognathia, Ventricular septal defect, Prominent nasal bridge, Craniosynostosis, Broad nas... |
ORPHA:457193 |
Ellis-Van Creveld Syndrome |
|
Hypoplastic iliac wing, Capitate-hamate fusion, Postaxial hand polydactyly, Pectus carinatum, Pos... |
OMIM:225500 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
8p23.1 deletion syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Congenital diaphragmatic hernia, Abnormal he... |
DECIPHER:39 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Inguinal hernia, Arachnodactyly, Kyphoscoliosis, Limitation of joint mobility, Osteoporosis, Mitr... |
OMIM:236200 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Abnor... |
ORPHA:464321 |
Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Splenomegaly, Cholestasis, Anemia,... |
ORPHA:398124 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Aplasia of ... |
ORPHA:1352 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Osteopenia, Delayed eruption of teeth, Osteomyelitis, Recurrent fractures, Craniosynostosis, Eosi... |
ORPHA:2314 |
Hemophilia B |
|
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... |
ORPHA:98879 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Small for gestational age, Ventricular septal defect, Micrognathia, Nephrogenic diabetes insipidu... |
OMIM:208085 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Joint laxity, Severe short stature, Wide anterior fontanel, Hip dislocation, Joint subluxation, P... |
ORPHA:90349 |
Microlissencephaly-Micromelia Syndrome |
|
Hypoparathyroidism, Micromelia, Short neck, Adducted thumb, Abnormal circulating calcium-phosphat... |
ORPHA:50810 |
Joubert Syndrome 37 |
|
Wide nose, Prominent metopic ridge, Anteverted nares, Lumbar hyperlordosis, Postaxial polydactyly... |
OMIM:619185 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia |
ORPHA:1116 |
Acitretin/Etretinate Embryopathy |
|
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Antever... |
ORPHA:40366 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Elevated circulating creatine kinase concentration, Split hand, Wide nasal bridge, Myoclonic seiz... |
ORPHA:168486 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Prominent metopic ridge, Severe short stature, Arachnodactyly, Camptodactyly o... |
ORPHA:2215 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Broad-based gait, Tented upper lip vermilion, Overlapping toe, Tapered finger, Gait ataxia, Hip d... |
OMIM:617807 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Periostitis, Osteolysis, Fused cervical vertebrae, Joint swelling, Fla... |
OMIM:612852 |
Khan-Khan-Katsanis Syndrome |
|
Sacral dimple, Delayed closure of the anterior fontanelle, Micrognathia, Postaxial polydactyly, C... |
OMIM:618460 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Bicuspid aortic valve, Decreased circulating antibody level, Atrial septal defect, Intrauterine g... |
OMIM:617744 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Inguinal hernia, Ventricular septal defect, Anteverted nares, Single transverse palmar crease, Ky... |
OMIM:616449 |
Coffin-Lowry Syndrome |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Single transverse palmar crease, ... |
OMIM:303600 |
Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Multiple myeloma, Thrombocytopenia |
OMIM:230800 |
Weiss-Kruszka Syndrome |
|
Prominent metopic ridge, Ventricular septal defect, Bicuspid aortic valve, Anteverted nares, Sing... |
OMIM:618619 |
Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Back pain, Abnormal metatarsal morphology, Knee osteoarthritis, Enthesitis, Abnormal shoulder mor... |
ORPHA:85438 |
Timothy Syndrome |
|
Ventricular septal defect, Hypoglycemia, Depressed nasal bridge, Cardiomegaly, Patent foramen ova... |
OMIM:601005 |
Primary Dystonia, Dyt13 Type |
|
Abnormal repetitive mannerisms |
ORPHA:98807 |
Fanconi Anemia, Complementation Group N |
|
Aplastic anemia, Nephroblastoma, Postnatal growth retardation, Medulloblastoma, Neuroblastoma |
OMIM:610832 |
Tetrasomy 12P |
|
Delayed eruption of teeth, Anteverted nares, Cachexia, Short neck, Joint hyperflexibility, Short ... |
ORPHA:884 |
Developmental And Epileptic Encephalopathy 89 |
|
Microretrognathia, Omphalocele, Epileptic spasm, Anteverted nares, Depressed nasal bridge, Bilate... |
OMIM:619124 |
Schisis Association |
|
Encephalocele, Anencephaly, Spina bifida |
ORPHA:63862 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Cardiomegaly, Prominent nose, Pineal cyst, Atrial septal defect, Patent foramen ovale, Joint laxi... |
OMIM:300967 |
Childhood Absence Epilepsy |
|
Abnormal social behavior, Punding, Attention deficit hyperactivity disorder, Depression |
ORPHA:64280 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Neutropenia, B lymphocytopenia, Hepatosplenomegaly |
OMIM:301081 |
Thrombocytopenia-Absent Radius Syndrome |
|
Micrognathia, Femoral bowing, Abnormal shoulder morphology, Atrial septal defect, Clinodactyly of... |
OMIM:274000 |
Micro Syndrome |
|
Anteverted nares, Micrognathia, Joint stiffness, Kyphosis, Wide nasal bridge, Seizure, Scoliosis,... |
ORPHA:2510 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence |
OMIM:192445 |
Marfanoid Habitus With Situs Inversus |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Arachnodactyly, Situs inversus to... |
OMIM:609008 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Portal hyper... |
ORPHA:79124 |
Desmosterolosis |
|
Hypoplastic nasal bridge, Anteverted nares, Rhizomelia, Micrognathia, Generalized osteosclerosis,... |
OMIM:602398 |
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome |
|
Abnormal heart valve morphology, Small hand, Mitral valve prolapse, Joint hyperflexibility, Pulmo... |
ORPHA:2868 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Elevated hepatic transaminase, Insulin-resistant diabetes mellitus, Hypergonadotropic hypogonadis... |
OMIM:268020 |
Factor X Deficiency |
|
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... |
OMIM:227600 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Cryptorchidism, Insulin resistance, Diabetes mellitus, Hypothyroidism |
OMIM:616541 |
Macs Syndrome |
|
Joint laxity, Hypergonadotropic hypogonadism, Single transverse palmar crease, Micrognathia, Oste... |
OMIM:613075 |
Sclerosteosis 1 |
|
Mandibular prognathia, Syndactyly, Depressed nasal bridge, Sclerotic scapulae, Dental malocclusio... |
OMIM:269500 |
Seckel Syndrome 9 |
|
Ventricular septal defect, Small for gestational age, Congenital diaphragmatic hernia, Micrognath... |
OMIM:616777 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Thoracic hypoplasia, Postaxial polydactyly, Micromelia, Lateral clavicle hook, Hypopl... |
OMIM:617895 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Generalized-onset seizure, Bicuspid aortic valve, Decreased response to grow... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Generalized-onset seizure, Bicuspid aortic valve, Decreased response to grow... |
ORPHA:363958 |
Brittle Cornea Syndrome 1 |
|
Joint laxity, Congenital hip dislocation, Mitral valve prolapse, Atypical scarring of skin, Scoli... |
OMIM:229200 |
Congenital Myopathy 22B, Severe Fetal |
|
Waddling gait, Hip contracture, Scapular winging, Thoracic scoliosis, Limb joint contracture, Sho... |
OMIM:620369 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Lymphopenia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Anemia, Failure to thrive, Thrombocytop... |
OMIM:617591 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Short stature, Cerebral hemorrhage, Postnatal growth retardation, Dilated cardiomyopathy, Stroke-... |
OMIM:300845 |
Gm1-Gangliosidosis, Type I |
|
Severe short stature, Thickened ribs, Short neck, Joint stiffness, Kyphosis, Hypoplastic vertebra... |
OMIM:230500 |
Bardet-Biedl Syndrome 9 |
|
Hyperglycemia |
OMIM:615986 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Inguinal hernia, Epileptic spasm, Femoral hernia, Anteverted nares, Obesity, Conotruncal defect, ... |
ORPHA:96147 |
Trisomy 18P |
|
Underdeveloped nasal alae, Micrognathia, Abnormal finger morphology, Wide nasal bridge, Attention... |
ORPHA:1715 |
Cold Agglutinin Disease |
|
Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly |
ORPHA:56425 |
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties |
|
Broad-based gait, Anteverted nares, Underdeveloped nasal alae, Inability to walk, Wide nasal brid... |
OMIM:616158 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Osteopenia, Bicuspid aortic valve, Vertebral segmentation defect, Atrial septal defect, Hypothyro... |
ORPHA:352665 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Osteopenia, Bicuspid aortic valve, Vertebral segmentation defect, Atrial septal defect, Hypothyro... |
ORPHA:453504 |
Radio-Renal Syndrome |
|
Severe short stature, Micromelia, Short neck, Hypoplasia of the radius, Abnormal rib morphology, ... |
ORPHA:3015 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop... |
OMIM:616100 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Inguinal hernia, Micrognathia, Atrial septal defect, Lethargy, Failure to thrive |
OMIM:614857 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat... |
OMIM:619463 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Prominent nasal bridge, Cardiomegaly, Abnormality of the palmar crease... |
OMIM:618652 |
Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
Glycosylphosphatidylinositol Biosynthesis Defect 11 |
|
Inguinal hernia, Tonic seizure, Focal-onset seizure, Wide nasal bridge, Seizure, Umbilical hernia |
OMIM:616025 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Missing ribs, Short neck, Rib fusion, Hemivertebrae, Thin ribs... |
OMIM:271520 |
Sarcoidosis, Susceptibility To, 2 |
|
Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Pleural effusion, Pulmo... |
OMIM:612387 |
Monosomy 18P |
|
Kyphoscoliosis, Micrognathia, Carious teeth, Short neck, Wide nasal bridge, Hypothyroidism, Brach... |
ORPHA:1598 |
Mosaic Variegated Aneuploidy Syndrome |
|
Short stature, Vaginal neoplasm, Rhabdomyosarcoma, Myelodysplasia, Acute lymphoblastic leukemia, ... |
ORPHA:1052 |
Immunodeficiency 42 |
|
Splenomegaly, Hypoplasia of the thymus, Hepatomegaly |
OMIM:616622 |
Ablepharon Macrostomia Syndrome |
|
Omphalocele, Toe syndactyly, Anteverted nares, Camptodactyly of finger, Depressed nasal bridge, U... |
ORPHA:920 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Postaxial polydactyly, Short neck, Postnatal growth retardation, Kyphoscoliosis, Abno... |
OMIM:302960 |
16P11.2P12.2 Microdeletion Syndrome |
|
Microretrognathia, Toe syndactyly, Anteverted nares, Camptodactyly of finger, Proximal placement ... |
ORPHA:261211 |
Marshall Syndrome |
|
Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ... |
OMIM:154780 |
Noonan Syndrome 4 |
|
Ventricular septal defect, Depressed nasal bridge, Large for gestational age, Short neck, Dental ... |
OMIM:610733 |
Mucopolysaccharidosis, Type Iiic |
|
Thickened ribs, Kyphoscoliosis, Joint stiffness, Ovoid thoracolumbar vertebrae, Beaking of verteb... |
OMIM:252930 |
Cardiofaciocutaneous Syndrome 1 |
|
Osteopenia, Hyperextensibility of the finger joints, Anteverted nares, Depressed nasal bridge, Mi... |
OMIM:115150 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Mandibular prognathia, Ataxia, Prominent nasal bridge, Bilateral tonic-clonic seizure, Micrognath... |
ORPHA:247262 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Wide nasal bridge, Seizure, Talipes equinovarus, Camptodactyly, Cervical C2/C3 vertebral fusion, ... |
OMIM:617333 |
Nicolaides-Baraitser Syndrome |
|
Single transverse palmar crease, Short metatarsal, Gait ataxia, Prominent interphalangeal joints,... |
OMIM:601358 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Prominent nasal bridge, Underdeveloped nasal... |
ORPHA:364577 |
Spontaneous Periodic Hypothermia |
|
Arrhythmia, Pallor |
ORPHA:29822 |
Otodental Syndrome |
|
Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Carious teeth, Ab... |
ORPHA:2791 |
Cutis Laxa-Marfanoid Syndrome |
|
Emphysema |
ORPHA:171719 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... |
ORPHA:436159 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Large for gestational age, Palmar pits, Short neck, Kyphosis, Cardiac ... |
ORPHA:77301 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Underdeveloped nasal alae, Kyphosis, Incr... |
OMIM:619005 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Micrognathia, Carious teeth... |
ORPHA:3253 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology, Abnormal form of the vertebral bodies |
ORPHA:93941 |
Recombinant 8 Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Anteverted nares, Micrognathia, Depressed nas... |
ORPHA:96167 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin resistance, Breast aplasia |
ORPHA:90153 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Mandibular prognathia, Broad-based gait, Aggressive behavior, Gait disturbance, Attention deficit... |
OMIM:300352 |
Pfeiffer Syndrome Type 2 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,... |
ORPHA:93259 |
Reticulum Cell Sarcoma |
|
Neoplasm, Sarcoma |
OMIM:267730 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Leukopenia, Growth delay, Cirrho... |
ORPHA:77259 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Omphalocele, Syndactyly, Aplasia of the nasal bone, Streak ovary, Kyphoscoliosis, Micrognathia, J... |
OMIM:618820 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Hypoplastic scapulae, Toe syndactyly, Kyphoscoliosis, Missing ribs, Split... |
OMIM:200980 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Brachydactyly, Broad long bones, Depressed nasal bridge, Anteverted nares, Abnormal metatarsal mo... |
ORPHA:163654 |
Mungan Syndrome |
|
Perimembranous ventricular septal defect, Pulmonic stenosis |
OMIM:611376 |
17Q24.2 Microdeletion Syndrome |
|
Otosclerosis, Failure to thrive in infancy, Decreased response to growth hormone stimulation test... |
ORPHA:529962 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... |
OMIM:600802 |
Congenital Alpha2-Antiplasmin Deficiency |
|
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... |
ORPHA:79 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra... |
OMIM:612576 |
Ellis Van Creveld Syndrome |
|
Intrauterine growth retardation, Failure to thrive, Neonatal short-limb short stature, Acute leuk... |
ORPHA:289 |
Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans... |
ORPHA:774 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Anteverted nares, Decreased response to growth hormone stimulation tes... |
OMIM:615866 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Ataxia, Micrognathia, Unsteady gait, Seizure, Short nose |
OMIM:256600 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Prominence of the premaxilla, Inguinal hernia, Depressed nasal bridge, Arachnodactyly, Congenital... |
OMIM:614437 |
Roifman-Chitayat Syndrome |
|
Osteopenia, Short metacarpal, Depressed nasal bridge, Short neck, Short metatarsal, Wide nasal br... |
OMIM:613328 |
Mucopolysaccharidosis, Type Vi |
|
Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ... |
OMIM:253200 |
Pmm2-Cdg |
|
Osteopenia, Mandibular prognathia, Multiple joint contractures, Prominent nose, Elevated circulat... |
ORPHA:79318 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Thyroid dysgenesis, Ventricular septal defect, Camptodactyly of finger, Micrognathia, Thyroid age... |
ORPHA:3047 |
Larsen Syndrome |
|
Cervical kyphosis, Short metatarsal, Atrial septal defect, Spina bifida occulta, Hypoplastic cerv... |
OMIM:150250 |
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Atrial septal defect, Seizure, Ataxia, Myoclonus |
OMIM:620094 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pa... |
ORPHA:300298 |
Meckel Syndrome, Type 8 |
|
Short neck, Pericardial effusion, Depressed nasal ridge, Polydactyly, Talipes equinovarus, Short ... |
OMIM:613885 |
Non-Distal Deletion 10Q |
|
Ataxia, Bilateral single transverse palmar creases, Wide nasal bridge, Gait disturbance, Cognitiv... |
ORPHA:1581 |
Raine Syndrome |
|
Mandibular prognathia, Natal tooth, Increased bone mineral density, Bowing of the long bones, Dep... |
OMIM:259775 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Joint laxity, Ventricular septal defect, Arachnodactyly, Abdominal obesity, Talipes equinovarus, ... |
OMIM:301039 |
Cryptococcosis |
|
Lymphoid leukemia, Mediastinal lymphadenopathy, Peritonitis, Neoplasm, Cirrhosis |
ORPHA:1546 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly |
OMIM:610293 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Splenomegaly, Anemia, Hepatomegaly |
OMIM:620296 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... |
OMIM:617044 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
Au-Kline Syndrome |
|
Vertebral segmentation defect, Clinodactyly of the 5th finger, Prominent metopic ridge, Thoracolu... |
OMIM:616580 |
Isolated Split Hand-Split Foot Malformation |
|
Finger syndactyly, Split hand, Absent hand, Oligodactyly |
ORPHA:2440 |
3-Methylglutaconic Aciduria, Type V |
|
Noncompaction cardiomyopathy, Ataxia, Dilated cardiomyopathy, Seizure, Nonprogressive cerebellar ... |
OMIM:610198 |
17Q11 Microdeletion Syndrome |
|
Multiple mucosal neuromas, Brain neoplasm, Pheochromocytoma, Short stature, Myelodysplasia, Glomu... |
ORPHA:97685 |
Maffucci Syndrome |
|
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Short stature, Hemangiomatosis, Neop... |
ORPHA:163634 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Anteverted nares, Depressed nasal bridge, Congenital diaphragmatic hernia, Large for gestational ... |
OMIM:614080 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Depression, Hip dysplasia, Gait disturbance, High palate, Abnormal repetitive mannerisms, Self-mu... |
ORPHA:457240 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Bronchiolitis, Atelectasis, Pulmonary fibrosis |
ORPHA:254361 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Hypoglycemia, Neoplasm of the liver, Recurrent hypoglycemia, Hypo... |
ORPHA:2126 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Hypoplasia of the premaxilla, Micrognathia, Deformed humerus, Mandibular condyle hypoplasia, Disl... |
ORPHA:2975 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Hypersensitivity pneumonitis, Bronchiectasis, Honeycomb lung, Chroni... |
ORPHA:79127 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Inguinal hernia, Abnormal nasopharynx morphology, Hypogonadotropic hypogonadism, Decreased respon... |
OMIM:129900 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Failure to thrive, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypop... |
OMIM:612541 |
Carpenter Syndrome 2 |
|
Single transverse palmar crease, Short neck, Preaxial polydactyly, Coxa vara, Knee flexion contra... |
OMIM:614976 |
Witteveen-Kolk Syndrome |
|
Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, Proximal ... |
OMIM:613406 |
Aminoacylase 1 Deficiency |
|
Seizure, Bilateral tonic-clonic seizure, Wide nasal bridge |
OMIM:609924 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis |
OMIM:619658 |
Opitz Gbbb Syndrome |
|
Omphalocele, Natal tooth, Short attention span, Atrial septal defect, Ventricular septal defect, ... |
ORPHA:2745 |
Recurrent Respiratory Papillomatosis |
|
Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn... |
ORPHA:60032 |
Bardet-Biedl Syndrome 1 |
|
Diabetes mellitus, Nephrogenic diabetes insipidus, Insulin resistance, Biliary tract abnormality,... |
OMIM:209900 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Mandibular prognathia, Depressed nasal bridge, Bulbous nose, Submucous cleft hard palate, Thick l... |
OMIM:619103 |
Campomelia, Cumming Type |
|
Bowing of the long bones, Abnormally ossified vertebrae, Micromelia, Abnormal thorax morphology, ... |
ORPHA:1318 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... |
OMIM:243150 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Cleft lip, Pulmonary artery stenosis, Cleft palate, Bilateral lung agenesis, Congenital pulmonary... |
OMIM:611812 |
Arterial Tortuosity Syndrome |
|
Coxa vara, Clinodactyly of the 5th finger, Femoral hernia, Arachnodactyly, Hiatus hernia, Dilated... |
ORPHA:3342 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau... |
OMIM:603903 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Short stature, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrh... |
OMIM:601847 |
Hurler Syndrome |
|
Abnormal clavicle morphology, Short stature, Camptodactyly of finger, Short neck, Limitation of j... |
ORPHA:93473 |
Orofaciodigital Syndrome Xv |
|
Broad hallux, Anteverted nares, Postaxial hand polydactyly, Duplication of phalanx of hallux, Wid... |
OMIM:617127 |
Plaa-Associated Neurodevelopmental Disorder |
|
Hyperextensibility of the finger joints, Single transverse palmar crease, Rocker bottom foot, Mic... |
ORPHA:521426 |
Hennekam-Beemer Syndrome |
|
Wide nose, Camptodactyly of finger, Micrognathia, Long nose, Wide nasal bridge, Seizure, Scoliosi... |
ORPHA:2135 |
Congenital Myopathy 11 |
|
Waddling gait, Atrial septal defect, Abnormal circulating creatine kinase concentration, Patent f... |
OMIM:619967 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Asbestos Intoxication |
|
Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, ... |
ORPHA:2302 |
Rett Syndrome |
|
Inability to walk, Bradykinesia, Seizure, Gait disturbance, Difficulty walking, Increased serum l... |
ORPHA:778 |
Joubert Syndrome 10 |
|
Wide nasal bridge, Postaxial polydactyly |
OMIM:300804 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Ulnar deviation of the hand, Ventricular septal defect, Proximal placement of thumb, Clinodactyly... |
OMIM:620113 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Wide nose, Micrognathia, Pectus excavatum, Underdeveloped nasal alae, Supernumerary tooth, Pectus... |
OMIM:619525 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Oropharyngeal squamous cell carcinoma, Short stature, Autoimmune thr... |
ORPHA:391487 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Inguinal hernia, Depressed nasal bridge, Abnormal dental enamel morphology, Sandal gap, Abnormal ... |
ORPHA:1812 |
Mucopolysaccharidosis Type 2 |
|
Irregularity of vertebral bodies, Progressive neurologic deterioration, Abnormal tricuspid valve ... |
ORPHA:580 |
Developmental And Epileptic Encephalopathy 75 |
|
Anteverted nares, Wide nasal bridge, Cardiomyopathy, Seizure, Short nose |
OMIM:618437 |
Mogs-Cdg |
|
Decreased circulating IgG level, Wide nose, Thoracic scoliosis, Left ventricular hypertrophy, Car... |
ORPHA:79330 |
Distal Deletion 6P |
|
Wide nose, Depressed nasal bridge, Anteverted nares, Micrognathia, Underdeveloped nasal alae, Sho... |
ORPHA:96125 |
Fetal Valproate Spectrum Disorder |
|
Omphalocele, Short nose, Depressed nasal ridge |
ORPHA:1906 |
Meier-Gorlin Syndrome 6 |
|
Microretrognathia, Small for gestational age, Decreased response to growth hormone stimulation te... |
OMIM:616835 |
Agnathia-Otocephaly Complex |
|
Aglossia, Cleft palate, Pulmonary hypoplasia, Narrow mouth, Microglossia |
OMIM:202650 |
Spastic Paraplegia 51, Autosomal Recessive |
|
Overweight, Inability to walk, Long nose, Flexion contracture, Bulbous nose, Wide nasal bridge, S... |
OMIM:613744 |
Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Micrognathia, Foot oligodactyly... |
OMIM:154400 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Leukopenia, Hemophagocytosis, Fail... |
OMIM:267700 |
Propionic Acidemia |
|
Pancytopenia, Short stature, Cerebellar hemorrhage, Anemia, Cardiomyopathy, Neutropenia, Thromboc... |
OMIM:606054 |
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects |
|
Joint laxity, Microretrognathia, Prominent nose, Bulbous nose, Wide nasal bridge, Short clavicles... |
OMIM:606220 |
Wiedemann-Steiner Syndrome |
|
Psychomotor deterioration, Short attention span, Hyperactivity, Aplasia/Hypoplasia of the ribs, T... |
ORPHA:319182 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Joint laxity, Epileptic spasm, Infantile spasms, Wide nasal bridge, Decreased body weight, Hypoth... |
OMIM:607906 |
7Q11.23 Microduplication Syndrome |
|
Single transverse palmar crease, Congenital diaphragmatic hernia, Micrognathia, Short neck, Hemiv... |
ORPHA:96121 |
Cebalid Syndrome |
|
Depressed nasal bridge, Anteverted nares, Congenital diaphragmatic hernia, Depressed nasal ridge,... |
OMIM:618774 |
2Q37 Microdeletion Syndrome |
|
Short palm, Finger syndactyly, Short metacarpal, Toe syndactyly, Anteverted nares, Depressed nasa... |
ORPHA:1001 |
Chromosome 18P Deletion Syndrome |
|
Toe syndactyly, Anteverted nares, Small for gestational age, Micrognathia, Short neck, Depressed ... |
OMIM:146390 |
Split-Hand/Foot Malformation 6 |
|
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly |
OMIM:225300 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Osteopenia, Joint laxity, Posterolateral diaphragmatic hernia, Inguinal hernia, Sandal gap, Singl... |
OMIM:613177 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Delayed epiphyseal ossification, Osteoarthritis, Small hand, Cone-shaped epiphysis, Short nose, B... |
OMIM:618618 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Inguinal hernia, Ventricular septal defect, Micrognathia, Thyroid lymphangiectasia, Short neck, P... |
OMIM:235255 |
Mucopolysaccharidosis-Plus Syndrome |
|
Wide nose, Short neck, Inability to walk, Metaphyseal widening, Flexion contracture, Clubbing, Wi... |
OMIM:617303 |
Mucopolysaccharidosis, Type Iiib |
|
Thickened ribs, Dense calvaria, Ovoid thoracolumbar vertebrae, Joint stiffness |
OMIM:252920 |
3Q29 Microdeletion Syndrome |
|
Prominent nasal bridge, Tapered finger, Joint hyperflexibility, Six lumbar vertebrae, Gait distur... |
ORPHA:65286 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Infantile spasms, Tonic seizure, Absent thumb, Seizure, Pulmonic stenosis, Atrial septal defect, ... |
OMIM:619239 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoproteinemia, Small for gestational age, Ventricular septal defect, Elevated circulating creat... |
ORPHA:26793 |
Williams-Beuren Syndrome |
|
Osteopenia, Bicuspid aortic valve, Flexion contracture, Glucose intolerance, Early onset of sexua... |
OMIM:194050 |
Geleophysic Dysplasia 1 |
|
Osteopenia, Anteverted nares, Camptodactyly of finger, Tricuspid stenosis, Joint stiffness, Coxa ... |
OMIM:231050 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Severe B lymphocytopenia, Portal hypertension, Patent ductus arteriosus, Macron... |
OMIM:620005 |
22Q11.2 Duplication Syndrome |
|
Wide nose, Micrognathia, Depressed nasal ridge, Cleft palate, Attention deficit hyperactivity dis... |
ORPHA:1727 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... |
ORPHA:1414 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Hepatosplenomegaly, Anemia, Leukopenia, Lymph... |
OMIM:603553 |
Flat Face-Microstomia-Ear Anomaly Syndrome |
|
Inguinal hernia, Camptodactyly of finger, Micrognathia, Long nose, Underdeveloped nasal alae, Wid... |
ORPHA:1968 |
Aredyld Syndrome |
|
Hepatomegaly, Short stature, Cachexia, Splenomegaly, Refractory anemia with ringed sideroblasts, ... |
ORPHA:1133 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Abnormal nasopharynx morphology, Toe syndactyly, Hypogonadotropic hypogonadism, Decreased respons... |
OMIM:604292 |
Cerebrofaciothoracic Dysplasia |
|
Short stature, Short neck, Rib fusion, Hemivertebrae, Vertebral segmentation defect, Narrow chest... |
ORPHA:1394 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Short stature, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Neoplasm o... |
ORPHA:77293 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Joint laxity, Wide nose, Toe syndactyly, Bicuspid aortic valve, Small for gestational age, Cranio... |
OMIM:300707 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Short neck, Kyphosis, Genu valgum, Reduced bone mineral density, Hypogonadism, Short nose, Spina ... |
ORPHA:2983 |
Cornelia De Lange Syndrome 1 |
|
Single transverse palmar crease, Congenital diaphragmatic hernia, Micrognathia, Micromelia, Proxi... |
OMIM:122470 |
Adult-Onset Still Disease |
|
Hepatomegaly, Generalized lymphadenopathy, Neutrophilia, Splenomegaly, Leukocytosis, Hepatitis, B... |
ORPHA:829 |
Pseudo-Torch Syndrome 2 |
|
Cerebral hemorrhage, Thrombocytopenia, Patent ductus arteriosus, Bradycardia, Petechiae |
OMIM:617397 |
Tetrasomy 15Q26 |
|
Microretrognathia, Arachnodactyly, Kyphoscoliosis, Camptodactyly, Atrial septal defect, Intrauter... |
OMIM:614846 |
Familial Afibrinogenemia |
|
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Gingival bleeding |
ORPHA:98880 |
Coffin-Siris Syndrome 4 |
|
Narrow nasal bridge, Wide nose, Ventricular septal defect, Mitral atresia, Anteverted nares, Depr... |
OMIM:614609 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic ataxia, Short attention span, Thoracic scoliosis, Micrognathia, Metatarsus adductus, Inab... |
ORPHA:300570 |
Lipodystrophy, Familial Partial, Type 7 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased adip... |
OMIM:606721 |
Serkal Syndrome |
|
Malrotation of small bowel, Pulmonary hypoplasia, Orofacial cleft |
ORPHA:139466 |
Cardioacrofacial Dysplasia 2 |
|
Mandibular prognathia, Postaxial hand polydactyly, Clubbing, Genu valgum, Postaxial foot polydact... |
OMIM:619143 |
Bartsocas-Papas Syndrome |
|
Finger syndactyly, Toe syndactyly, Underdeveloped nasal alae, Micrognathia, Aplasia/Hypoplasia of... |
ORPHA:1234 |
Jacobsen Syndrome |
|
Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Micrognathia, Short neck, Fl... |
OMIM:147791 |
Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia |
OMIM:613886 |
Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Decreased response to growth hormone stimulation test, Absent thumb, S... |
OMIM:609053 |
Kleefstra Syndrome 1 |
|
Mandibular prognathia, Natal tooth, Anteverted nares, Aggressive behavior, Persistence of primary... |
OMIM:610253 |
Tricuspid Atresia |
|
Cyanosis, Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great ar... |
ORPHA:1209 |
Lathosterolosis |
|
Abnormal thoracic spine morphology, Prominent metopic ridge, Toe syndactyly, Anteverted nares, Mi... |
ORPHA:46059 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Atrial septal defect, Sacral dimple, Single transverse palmar crease, Incisor macrodontia |
OMIM:615502 |
Stormorken Syndrome |
|
Abnormal bleeding, Howell-Jolly bodies, Short stature, Epistaxis, Subarachnoid hemorrhage, Asplen... |
OMIM:185070 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Osteopenia, Ataxia, Anteverted nares, Depressed nasal bridge, Hyperlordosis, Wide nasal bridge, D... |
ORPHA:221139 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Inguinal hernia, Anteverted nares, Seizure, Cognitive impairment, Metopic synostosis, Short nose,... |
OMIM:613735 |
Hurler-Scheie Syndrome |
|
Splenomegaly, Short stature, Abnormality of the tonsils, Hepatomegaly |
ORPHA:93476 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Lymphopenia, Follicular hyperplasia, Paratracheal lymphadenopathy, Leukopenia, Thrombocytosis, Fa... |
OMIM:615934 |
Holoprosencephaly 2 |
|
Aplasia of the nasal bone, Aplasia of the premaxilla, Adrenal hypoplasia, Proboscis, Absent nasal... |
OMIM:157170 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Lymphopenia |
OMIM:605309 |
Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Short distal phalanx of the thumb, Down-sloping shoulders, Kyphoscoliosis, Irre... |
OMIM:109400 |
Blepharonasofacial Malformation Syndrome |
|
Finger syndactyly, Inguinal hernia, Wide nose, Underdeveloped nasal alae, Wide nasal bridge, Join... |
ORPHA:1252 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Anteverted nares, Depressed nasal bridge, Micrognathia, Increased circulating IgM leve... |
OMIM:242860 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Bifid nasal tip, Mitral valve prolapse, Seizure, Malar flattening, Enamel hypoplasia, Failure to ... |
OMIM:618874 |
Trisomy 12P |
|
Micrognathia, Short neck, Wide nasal bridge, Large hands, Clinodactyly of the 5th finger, Malar f... |
ORPHA:1699 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Large for gestational age, Palmoplantar hyperkeratosis, Gait ataxia, Myoclonic seizure, Clinodact... |
OMIM:280000 |
Buratti-Harel Syndrome |
|
Velopharyngeal insufficiency, Submucous cleft hard palate, Recurrent pneumonia, High palate, Bifi... |
OMIM:619314 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Short attention span, Broad-based gait, Ataxia, Anteverted nares, Broad nasal tip, Underdeveloped... |
ORPHA:438216 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Mandibular prognathia, Prominent metopic ridge, Congenital hip dislocation, Bilateral tonic-cloni... |
OMIM:619512 |
Mietens Syndrome |
|
Hypoplasia of the ulna, Wide nose, Joint stiffness, Elbow dislocation, Metatarsus adductus, Coxa ... |
ORPHA:2557 |
Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Varicose veins, Increas... |
OMIM:263400 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Atrial septal defect, Broad hallux, Broad nasal tip, Wide nasal bridge, Shortening of all distal ... |
OMIM:614749 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
De Barsy Syndrome |
|
Osteopenia, Delayed eruption of teeth, Inguinal hernia, Congenital hip dislocation, Ventricular s... |
ORPHA:2962 |
Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Short attention span, Smooth philtrum, Ataxia, Sandal gap, Carious tee... |
OMIM:619229 |
X Small Rings |
|
Joint laxity, Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Anteverted nares,... |
ORPHA:96201 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice... |
OMIM:214500 |
Arachnoid Cyst |
|
Encephalocele, Subarachnoid hemorrhage, Spinal cord compression, Spinal arachnoid cyst, Hydroceph... |
ORPHA:2356 |
Cohen-Gibson Syndrome |
|
Osteopenia, Joint laxity, Depressed nasal bridge, Coxa valga, Hypoplastic iliac wing, Long finger... |
OMIM:617561 |
Deeah Syndrome |
|
Cervical hemivertebrae, Overlapping fingers, Decreased response to growth hormone stimulation tes... |
OMIM:619004 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Decreased response to growth hormone stimulation test, Precocious puberty, Cryptorchidism, Insuli... |
ORPHA:96182 |
Leukoencephalopathy With Calcifications And Cysts |
|
Stroke, Cerebral hemorrhage |
ORPHA:542310 |
Pontocerebellar Hypoplasia, Type 8 |
|
Ventricular septal defect, Anteverted nares, Joint stiffness, Gait ataxia, Talipes equinovarus, S... |
OMIM:614961 |
Choreoacanthocytosis |
|
Chorea, Compulsive behaviors, Loss of ambulation, Impaired vibratory sensation, Self-mutilation o... |
ORPHA:2388 |
Leukocyte Adhesion Deficiency Type Ii |
|
Mandibular prognathia, Small for gestational age, Ataxia, Scarring, Depressed nasal bridge, Overl... |
ORPHA:99843 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Pulmonary hypoplasia |
ORPHA:2141 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Atrial septal defect, Bulbous nose, Ventricular septal defect |
OMIM:618330 |
Rauch-Steindl Syndrome |
|
Hyperactivity, Depressed nasal bridge, Aggressive behavior, Micrognathia, Wide nasal bridge, Thin... |
OMIM:619695 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Short neck, Short metatarsal, Short metacarpal, Anteverted nares, Depressed nasal bridge, Typical... |
OMIM:617157 |
Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Stiff neck, Overlapping fingers, Short neck, Adducted thumb, Femoral bowing, ... |
OMIM:617022 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Microretrognathia, Hypertriglyceridemia, Ventricular septal defect, Failure to thrive in infancy,... |
OMIM:619418 |
Rabin-Pappas Syndrome |
|
Mandibular prognathia, Failure to thrive in infancy, Micrognathia, Broad nasal tip, Obesity, Wide... |
OMIM:620155 |
Amyloidosis, Familial Visceral |
|
Splenomegaly, Cholestasis, Hepatomegaly |
OMIM:105200 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Pulmonary hypoplasia |
OMIM:618174 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Postaxial hand polydactyly, ... |
ORPHA:75389 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Pallor, Poikilocytosis, Anemia |
OMIM:616959 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Flexion contracture, Abnormal tricuspid valve morphology, Increased size of nasopharyngeal adenoi... |
ORPHA:217093 |
Cog1-Cdg |
|
Osteopenia, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Coxa valga, Postnatal g... |
ORPHA:263508 |
Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Epistaxis, Autoimmune thrombocytopenia, Abnormal erythrocyte morphol... |
ORPHA:324636 |
Non-Syndromic Metopic Craniosynostosis |
|
Omphalocele, Wide nasal bridge |
ORPHA:3366 |
Fibronectin Glomerulopathy |
|
Hypertension, Cerebral hemorrhage |
ORPHA:84090 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Enlarged ton... |
OMIM:308230 |
Cardiospondylocarpofacial Syndrome |
|
Abnormal form of the vertebral bodies, Mitral valve prolapse, Short palm, Failure of eruption of ... |
ORPHA:3238 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Pericarditis, Lumbar hyperlordosis, Camptodactyly of finger, Wrist swelling, Bone cyst, Knee oste... |
ORPHA:2848 |
Portal Hypertension, Noncirrhotic, 1 |
|
Splenomegaly, Portal hypertension, Hepatomegaly |
OMIM:617068 |
Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia... |
ORPHA:199302 |
Tempi Syndrome |
|
Facial erythema, Intracranial hemorrhage, Telangiectasia, Increased hematocrit, Polycythemia |
ORPHA:284227 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Mandibular prognathia, High palate, Abnormal repetitive mannerisms, Bifid uvula, Nail-biting, Pai... |
OMIM:620330 |
8P11.2 Deletion Syndrome |
|
Sacral dimple, Hypogonadotropic hypogonadism, Depressed nasal bridge, Micrognathia, Anosmia, Mitr... |
ORPHA:251066 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Recurrent respiratory infections, High palate, Pulmonary hypoplasia |
OMIM:255320 |
Orofaciodigital Syndrome Type 14 |
|
Microretrognathia, Broad hallux, Deviation of the hallux, Accessory oral frenulum, Hamartoma of t... |
ORPHA:434179 |
Isolated Childhood Apraxia Of Speech |
|
High, narrow palate, Submucous cleft hard palate |
ORPHA:209908 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Ataxia, Chorea, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Motor tics |
OMIM:619725 |
Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Natal tooth, Broad hallux, Hamartoma of tongue, Micrognathia, Cleft lip, Posta... |
OMIM:615948 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Depressed nasal bridge, Single transverse palmar crease, Kyphoscoliosis, Tonic seizure, Clinodact... |
OMIM:620075 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
Prolidase Deficiency |
|
Depressed nasal bridge, Micrognathia, Concave nasal ridge, Increased circulating antibody level, ... |
OMIM:170100 |
Gabriele-De Vries Syndrome |
|
Waddling gait, Hallux valgus, Sandal gap, Micrognathia, Broad nasal tip, Long fingers, Distal art... |
OMIM:617557 |
Orofaciodigital Syndrome Type 2 |
|
Micrognathia, Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tib... |
ORPHA:2751 |
Enlarged Parietal Foramina |
|
Occipital encephalocele, Myelomeningocele, Abnormal cerebral vein morphology, Venous malformation |
ORPHA:60015 |
Acropectorovertebral Dysplasia |
|
Spina bifida |
ORPHA:957 |
Osteogenesis Imperfecta, Type I |
|
Osteopenia, Otosclerosis, Recurrent fractures, Biconcave flattened vertebrae, Increased susceptib... |
OMIM:166200 |
Cerebral Visual Impairment |
|
Intracranial hemorrhage, Hydrocephalus, Ischemic stroke |
ORPHA:447788 |
Pitt-Hopkins Syndrome |
|
Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Single transverse palmar crease... |
OMIM:610954 |
Immunodeficiency 23 |
|
Hemolytic anemia, Failure to thrive, Eosinophilia, Abscess, Hodgkin lymphoma, Neutropenia, Lympho... |
OMIM:615816 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Intrauterine growth retardation |
OMIM:611134 |
22Q11.2 Deletion Syndrome |
|
Micrognathia, Short neck, Hypoplasia of the thymus, Atrial septal defect, Hypothyroidism, Hypopar... |
ORPHA:567 |
Frontometaphyseal Dysplasia 2 |
|
Congenital hip dislocation, Bicuspid aortic valve, Elbow contracture, Short metatarsal, Finger cl... |
OMIM:617137 |
Birk-Barel Syndrome |
|
Tented upper lip vermilion, High palate, Short philtrum, Submucous cleft soft palate, Bifid uvula |
OMIM:612292 |
Developmental And Epileptic Encephalopathy 90 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Focal impaired awareness seizure, Atrial sep... |
OMIM:301058 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Intrauterine growth retardation, Meningocele, Anencephaly |
OMIM:603194 |
Isovaleric Acidemia |
|
Leukopenia, Pancytopenia, Thrombocytopenia, Cerebellar hemorrhage |
OMIM:243500 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Depressed nasal bridge, Ataxia, Short neck, Bulbous nose, Transposition of the great arteries, Ta... |
OMIM:616789 |
Necrotizing Enterocolitis |
|
Peritonitis, Abnormal glucose homeostasis, Hyperglycemia |
ORPHA:391673 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Flexion contracture, Abnormal tricuspid valve morphology, Increased size of nasopharyngeal adenoi... |
ORPHA:217085 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Failure to thrive, B lymphocytopenia, Rectal abscess, Neutropenia |
OMIM:601495 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagoc... |
ORPHA:158048 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Short attention span, Prominent fingertip pads, Anteverted nares, Sandal gap, Dysplastic tricuspi... |
OMIM:612863 |
Aymé-Gripp Syndrome |
|
Pericarditis, Inguinal hernia, Depressed nasal bridge, Prominent metopic ridge, Craniosynostosis,... |
ORPHA:1272 |
Multifocal Atrial Tachycardia |
|
Ventricular septal defect, Hypothyroidism, Pulmonic stenosis, Atrial septal defect, Lethargy, Hyp... |
ORPHA:3282 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease |
OMIM:214900 |
Geleophysic Dysplasia 2 |
|
Tricuspid stenosis, Ovoid vertebral bodies, Joint stiffness, Limitation of joint mobility, Mitral... |
OMIM:614185 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Increased overbite, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:618504 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Neoplasm, Thrombocytopenia |
ORPHA:169090 |
Duane-Radial Ray Syndrome |
|
Abnormal nasopharynx morphology, Preaxial polydactyly, Shoulder dislocation, Choanal stenosis, Tr... |
OMIM:607323 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Joint laxity, Long toe, Overlapping toe, Pectus excavatum, Postnatal growth retardation, Flexion ... |
ORPHA:254528 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... |
OMIM:277450 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Short stature, Absent thumb, Fibular hypoplasia, Aplasia/Hyp... |
OMIM:612447 |
Muckle-Wells Syndrome |
|
Hepatomegaly, Short stature, Splenomegaly, Delayed puberty, Anemia |
ORPHA:575 |
Cerebellofaciodental Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, Tapered finger, Short neck, Dental ma... |
OMIM:616202 |
Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... |
OMIM:606719 |
Wolf-Hirschhorn Syndrome |
|
Single transverse palmar crease, Micrognathia, Abnormal form of the vertebral bodies, Atrial sept... |
OMIM:194190 |
Microphthalmia, Syndromic 9 |
|
Atrial septal defect, Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia... |
OMIM:601186 |
Joubert Syndrome 3 |
|
Atrial septal defect, Anteverted nares, Ataxia, Wide nasal bridge |
OMIM:608629 |
Cardiofaciocutaneous Syndrome |
|
Failure to thrive in infancy, Abnormal heart valve morphology, Anteverted nares, Depressed nasal ... |
ORPHA:1340 |
Fetal Hydantoin Syndrome |
|
Depressed nasal ridge, Abnormality of the fontanelles or cranial sutures, Triphalangeal thumb, He... |
ORPHA:1912 |
Allergic Bronchopulmonary Aspergillosis |
|
Emphysema, Bronchiectasis |
ORPHA:1164 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Depressed nasal bridge, Delayed closure of the anterior fontanelle, Micrognathia, Large fontanell... |
OMIM:614887 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
Wildervanck Syndrome |
|
Meningocele |
ORPHA:3456 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Depressed nasal bridge, Underdeveloped nasal alae, Hypoplasia of the maxilla, Rhinitis, Taurodont... |
OMIM:305100 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Hyperactivity, Anteverted nares, Prominent nasal bridge, Open mouth, Abnormal repetitive manneris... |
OMIM:617751 |
Congenital Contractural Arachnodactyly |
|
Congenital kyphoscoliosis, Arachnodactyly, Camptodactyly of finger, Joint stiffness, Flexion cont... |
ORPHA:115 |
Mucolipidosis Type Ii |
|
Knee flexion contracture, Abnormal long bone morphology, Patent foramen ovale, Prominent metopic ... |
ORPHA:576 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Short stature, Splenomegaly, Jaund... |
OMIM:211600 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Emphysema |
OMIM:210050 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Finger syndactyly, Short stature, Camptodactyly of finger, Multiple pterygia, Pectus excavatum, L... |
ORPHA:2990 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Depressed nasal bridge,... |
ORPHA:2062 |
Severe Congenital Nemaline Myopathy |
|
Multiple prenatal fractures, Abnormal thorax morphology, Flexion contracture, Large fontanelles, ... |
ORPHA:171430 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Bowing of the long bones, Micromelia, Micrognathia, Wide nasal bridge, Short long bone, Talipes e... |
OMIM:224410 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Mandibular prognathia, Prominent nose, Short neck, Prominent fingertip pads, Thick nasal alae, Br... |
OMIM:619950 |
Isolated Posterior Meningocele |
|
Tethered cord, Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Hydromyelia,... |
ORPHA:268810 |
Noonan Syndrome 3 |
|
Juvenile myelomonocytic leukemia, Patent ductus arteriosus, Short stature |
OMIM:609942 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Wide cranial sutures, Short femur, Recurrent fractures, Metaphyseal spurs, Undulate r... |
OMIM:618188 |
Jacobsen Syndrome |
|
Short neck, Abnormal form of the vertebral bodies, Long hallux, Broad columella, Broad hallux pha... |
ORPHA:2308 |
Facial Paresis, Hereditary Congenital, 3 |
|
Depressed nasal bridge, Anteverted nares, Short nose, Micrognathia |
OMIM:614744 |
Wiedemann-Rautenstrauch Syndrome |
|
Micrognathia, Secundum atrial septal defect, Short neck, Flexion contracture, Hypoplasia of the t... |
OMIM:264090 |
Meconium Aspiration Syndrome |
|
Atelectasis, Pneumothorax, Aspiration pneumonia |
ORPHA:70588 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Intestinal malrotation, Pulmonary hypoplasia |
OMIM:601163 |
Polysyndactyly With Cardiac Malformation |
|
Syndactyly, Anteverted nares, Ventricular septal defect, Preaxial hand polydactyly, Duplication o... |
OMIM:263630 |
Elliptocytosis 1 |
|
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis |
OMIM:611804 |
Pfeiffer Syndrome Type 1 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Depressed nasal bridge,... |
ORPHA:93258 |
Vacterl/Vater Association |
|
Finger syndactyly, Abnormal intervertebral disk morphology, Preaxial hand polydactyly, Abnormal s... |
ORPHA:887 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Thoracic scoliosis, Ventricular septal defect, Postaxial polydactyly, Kyphosis, Knee flexion cont... |
OMIM:603387 |
Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Depressed nasal bridge, Wide nasal bridge, Osteopetrosis, Abnormal met... |
ORPHA:1522 |
Familial Adenomatous Polyposis 1 |
|
Eruption failure, Supernumerary tooth, Carious teeth, Odontoma |
OMIM:175100 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Depressed nasal bridge, Abnormality of the dentition, Wide mouth, Inappropriate laughter, Enamel ... |
OMIM:615802 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Inguinal hernia, Overlapping toe, Proximal placement of thumb, Tapered finger, Abnormality of the... |
ORPHA:487796 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact... |
OMIM:602418 |
Cholesteryl Ester Storage Disease |
|
Splenomegaly, Jaundice, Cirrhosis, Hepatomegaly |
ORPHA:75234 |
Wolcott-Rallison Syndrome |
|
Metaphyseal dysplasia, Neonatal insulin-dependent diabetes mellitus, Central hypothyroidism, Seiz... |
ORPHA:1667 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Broad hallux, Sandal gap, Persistence of primary teeth, Scarring alopecia of scalp, Clinodactyly,... |
OMIM:618727 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Atrial septal defect, Small for gestational age, Hypoglycemia |
OMIM:615160 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart failure, Pallor |
ORPHA:90037 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Short neck, Hemivertebrae, Pectus carinatum, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasi... |
OMIM:276820 |
Pontocerebellar Hypoplasia, Type 17 |
|
Microretrognathia, Ventricular septal defect, Secundum atrial septal defect, Kyphosis, Seizure, I... |
OMIM:619909 |
Cardiospondylocarpofacial Syndrome |
|
Congenital diaphragmatic hernia, Pseudoepiphyses, Atrial septal defect, Patent foramen ovale, Joi... |
OMIM:157800 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenitis, Cholestasis, Lymphadenopathy, Growth del... |
OMIM:615895 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... |
OMIM:614162 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor, Anemia |
OMIM:246450 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Toe syndactyly, Joint stiffness, Split hand, Abnormal rib morphology, Poplitea... |
ORPHA:1300 |
Primary Pulmonary Hypoplasia |
|
Cyanosis, Dextrocardia, Micrognathia, Secundum atrial septal defect, Patellar hypoplasia, Hypoxem... |
ORPHA:2257 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Venous insufficiency, Arterial stenosis, Intracranial hemorrhage, Sp... |
ORPHA:565 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Broad-based gait, Ataxia, Ventricular septal defect, Decreased response to growth hormone stimula... |
OMIM:610978 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Postnatal growth retardation, Splenomegaly, Growth delay, Bile duct proliferation, ... |
OMIM:613027 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Bicuspid aortic valve, Single transverse palmar crease, Clonic seizure, Abnormal curva... |
OMIM:619475 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Joint laxity, Hyperextensibility of the finger joints, Syndactyly, Short stature, Broad clavicles... |
OMIM:151050 |
Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
Sialuria |
|
Neuropathic spinal arthropathy, Wide nasal bridge, 2-3 toe syndactyly, Seizure, Attention deficit... |
ORPHA:3166 |
Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Perimembra... |
OMIM:613426 |
Acquired Ichthyosis |
|
Neoplasm, Lymphoma, Multiple myeloma, Sarcoma |
ORPHA:454 |
Idiopathic Pulmonary Hemosiderosis |
|
Diffuse alveolar hemorrhage, Heart murmur, Hepatosplenomegaly, Iron deficiency anemia, Pallor |
ORPHA:99931 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Megaloblastic anemia, Pulmonary embolism, Atrophy of the spinal cord, Hydrocephalus, Dilated card... |
ORPHA:79282 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Anterior pituitary hypoplasia, Prominent nose, Clinodactyly of the 5th finger, Atrial septal defe... |
ORPHA:466791 |
Developmental And Epileptic Encephalopathy 80 |
|
Tapered finger, Micrognathia, Wide nasal bridge, Seizure, Talipes equinovarus, Triphalangeal thum... |
OMIM:618580 |
Humero-Radial Synostosis |
|
Meningocele |
ORPHA:3265 |
Orofaciodigital Syndrome X |
|
Coalescence of tarsal bones, Depressed nasal bridge, Preaxial hand polydactyly, Hand oligodactyly... |
OMIM:165590 |
Intellectual Developmental Disorder, Autosomal Dominant 61 |
|
Generalized myoclonic-atonic seizure, Wide nasal bridge, Prominent nasal bridge, Attention defici... |
OMIM:618009 |
Glycogen Storage Disease Ixa1 |
|
Growth delay, Splenomegaly, Hepatomegaly |
OMIM:306000 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Lumbar hyperlordosis, Joint stiffness, Short neck, Inability to walk, Flexion contracture, Abnorm... |
ORPHA:505248 |
Fg Syndrome 5 |
|
Metopic synostosis, Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:300581 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Short proximal phalanx of the 5th finger, Sacral dimple, Anteverted nares, Failure to thrive in i... |
ORPHA:261323 |
15Q11.2 Microdeletion Syndrome |
|
Short attention span, Ataxia, Ventricular septal defect, Abnormal heart morphology, Seizure, Tota... |
ORPHA:261183 |
Peho Syndrome |
|
Anteverted nares, Infantile spasms, Tapered finger, Flexion contracture, Limitation of joint mobi... |
ORPHA:2836 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Syndactyly, Anteverted nares, Depressed nasal bridge, Wide nasal bridge, Short nose, Failure to t... |
OMIM:616430 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Leukemia, Lymphoma, Severe short stature |
ORPHA:2526 |
Diamond-Blackfan Anemia 1 |
|
Micrognathia, Short neck, Depressed nasal ridge, Hypoplastic coccygeal vertebrae, Triphalangeal t... |
OMIM:105650 |
Fryns Syndrome |
|
Omphalocele, Anteverted nares, Congenital diaphragmatic hernia, Micrognathia, Short neck, Wide na... |
ORPHA:2059 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Joint laxity, Microretrognathia, Arachnodactyly, Scarring, Hiatus hernia, Generalized joint laxit... |
OMIM:601776 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Osteopenia, Congenital hip dislocation, Prominent nose, Atrial septal defect, Joint laxity, Depre... |
ORPHA:480880 |
Down Syndrome |
|
Patent ductus arteriosus, Short stature, Myeloproliferative disorder, Acute megakaryocytic leukemia |
OMIM:190685 |
Chromosome 3Q29 Duplication Syndrome |
|
Bulbous nose, Wide nasal bridge, Obesity, Multiple palmar creases, Short nose |
OMIM:611936 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Glioma, Short stature, Rhabdomyosarcoma, Medulloblastoma, Lymphoma, ... |
OMIM:251260 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia |
OMIM:259700 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Cognitive impairment, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, D... |
ORPHA:98784 |
3Mc Syndrome |
|
Craniosynostosis, Hyperlordosis, Postnatal growth retardation, Limited pronation/supination of fo... |
ORPHA:293843 |
Aica-Ribosuria Due To Atic Deficiency |
|
Prominent metopic ridge, Anteverted nares, Hypoglycemia, Prominent nasal bridge, Secundum atrial ... |
OMIM:608688 |
Gardner Syndrome |
|
Odontoma, Multiple unerupted teeth, Supernumerary tooth, Abnormality of the dentition |
ORPHA:79665 |
Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Short attention span, Hypoparathyroidism, Thyroid hemiagenesis, Ataxia, Ventr... |
ORPHA:209905 |
Letterer-Siwe Disease |
|
Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Thrombocytopenia |
OMIM:246400 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
Histidinuria-Renal Tubular Defect Syndrome |
|
Short middle phalanx of finger, Hypoglycemia, Wide nasal bridge, Rounded middle phalanx of finger |
ORPHA:2158 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Pallor, Neutropenia, Decreased proportion ... |
ORPHA:101096 |
Lateral Meningocele Syndrome |
|
Tethered cord, Short stature, Hydrocephalus, Meningocele, Patent ductus arteriosus, Dural ectasia... |
OMIM:130720 |
Williams Syndrome |
|
Osteopenia, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, Micrognath... |
ORPHA:904 |
Loeys-Dietz Syndrome 4 |
|
Joint laxity, Inguinal hernia, Bicuspid aortic valve, Arachnodactyly, Protrusio acetabuli, Mitral... |
OMIM:614816 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Osteopenia, Depressed nasal bridge, Long nose, Slender long bone, Seizure, Scoliosis, Malar flatt... |
OMIM:618590 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Multifocal seizures, Ataxia, Wide nasal bridge, Dysmetria, Athetosis, Cardiomyopathy, Seizure, Di... |
ORPHA:572798 |
Alg2-Cdg |
|
Seizure, Wide nasal bridge, Infantile spasms |
ORPHA:79326 |
Gitelman Syndrome |
|
Neoplasm of the pancreas, Maternal diabetes, Insulin resistance, Glucose intolerance, Diabetic ke... |
ORPHA:358 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Cleft upper lip, Deep philtrum, Cleft palat... |
OMIM:612530 |
16P13.11 Microdeletion Syndrome |
|
Generalized-onset seizure, Anteverted nares, Ventricular septal defect, Camptodactyly of finger, ... |
ORPHA:261236 |
Metachromatic Leukodystrophy, Adult Form |
|
Short attention span, Chorea, Progressive psychomotor deterioration, Depression, Emotional labili... |
ORPHA:309271 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, Depletion of m... |
OMIM:251880 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Elevated circulating creatine kinase concentration, Limb ataxia, Gait ataxia, Bradykinesia, Cardi... |
OMIM:258450 |
Fryns Syndrome |
|
Microretrognathia, Omphalocele, Prominent fingertip pads, Ventricular septal defect, Anteverted n... |
OMIM:229850 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Microretrognathia, Brachydactyly, Anteverted nares, Proportionate shortening of all digits, Eleva... |
ORPHA:280633 |
Noonan Syndrome 8 |
|
Left ventricular hypertrophy, Ventricular septal defect, Large for gestational age, Short neck, P... |
OMIM:615355 |
Megabladder, Congenital |
|
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa... |
OMIM:618719 |
Noonan Syndrome 1 |
|
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Failure to thrive in infancy,... |
OMIM:163950 |
Poikiloderma With Neutropenia |
|
Joint laxity, Depressed nasal bridge, Elevated circulating creatine kinase concentration, Microgn... |
OMIM:604173 |
Sialuria |
|
Inguinal hernia, Wide nasal bridge, 2-3 toe syndactyly, Seizure, Attention deficit hyperactivity ... |
OMIM:269921 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Megaloblastic anemia, Pallor, Thrombocytopenia |
ORPHA:90045 |
Ayme-Gripp Syndrome |
|
Mandibular prognathia, Pericarditis, Depressed nasal bridge, Delayed cranial suture closure, Tape... |
OMIM:601088 |
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Short nose, Arachnodactyly, Delayed cranial suture closure, Micrognathia |
ORPHA:1129 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Sacral dimple, Depressed nasal bridge, Prominent nasal bridge, Bulbous nose, Clinodactyly of the ... |
OMIM:618828 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Ataxia, Hip dislocation, Gingival overgrowth, Long philtrum, Abnormal repetitive mannerisms, Smoo... |
OMIM:619428 |
Dermotrichic Syndrome |
|
Seizure, Short nose, Depressed nasal bridge, Abnormal vertebral morphology |
ORPHA:99688 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Wormian bones, Ventricular septal defect, Decreased response to growth hormone stimulation test, ... |
ORPHA:444077 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Osteopenia, Mandibular prognathia, Bicuspid aortic valve, Single transverse palmar crease, Microg... |
OMIM:150230 |
Isolated Sedoheptulokinase Deficiency |
|
Portal hypertension, Hepatitis, Cholestasis, Cholestatic liver disease, Postprandial hyperglycemia |
ORPHA:440713 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Short stature, Lateral clavicle hook, Early ossification of capital femor... |
OMIM:208500 |
Floating-Harbor Syndrome |
|
Prominent nose, Short middle phalanx of the 2nd finger, Short neck, Clinodactyly of the 5th finge... |
OMIM:136140 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Prominent nasal bridge, Broad nasal tip, Micrognathia, Wide nasal bridge, Seizure, Scoliosis, Dec... |
OMIM:300749 |
Blepharophimosis With Ptosis, Syndactyly, And Short Stature |
|
Mandibular prognathia, Cutaneous finger syndactyly, Anosmia, Wide nasal bridge |
OMIM:210745 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Microretrognathia, 2-5 finger syndactyly, Prominent metopic ridge, Multiple joint contractures, C... |
ORPHA:468631 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Cholestatic liver disease, Hemopha... |
ORPHA:540 |
Developmental And Epileptic Encephalopathy 18 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, Focal-... |
OMIM:615476 |
Aicardi-Goutières Syndrome |
|
Enchondroma, Short stature, Neonatal alloimmune thrombocytopenia, Cardiomegaly, Chronic lymphatic... |
ORPHA:51 |
Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Ataxia, Anteverted nares, Single transverse palmar crease, Prominent nose, Infantile spasms, Achi... |
OMIM:618076 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Short neck, Abnormal rib morphology, Small hand, Short foot, Spina bifida occulta, Th... |
ORPHA:488434 |
Aspergillosis |
|
Intracranial hemorrhage, Stroke, Eosinophilia, Neutropenia |
ORPHA:1163 |
Schuurs-Hoeijmakers Syndrome |
|
Bicuspid aortic valve, Bulbous nose, Seizure, Large hands, Abnormal cardiac septum morphology, Pa... |
OMIM:615009 |
Rhombencephalosynapsis |
|
Microretrognathia, Finger syndactyly, Anteverted nares, Ataxia, Polydactyly, Complete duplication... |
ORPHA:59315 |
Indomethacin Embryofetopathy |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:1909 |
Cadds |
|
Adrenal hypoplasia, Micrognathia, Seizure, Intrauterine growth retardation, Short nose |
ORPHA:369942 |
Chromosome 17Q12 Duplication Syndrome |
|
Esophageal atresia, Cleft soft palate, Smooth philtrum |
OMIM:614526 |
Brittle Cornea Syndrome |
|
Hallux valgus, Arachnodactyly, Osteoporosis, Corneal scarring, Increased susceptibility to fractu... |
ORPHA:90354 |
Myopathic Ehlers-Danlos Syndrome |
|
Pallor |
ORPHA:536516 |
Trichothiodystrophy 1, Photosensitive |
|
Small for gestational age, Flexion contracture, Absence of subcutaneous fat, Retrognathia, Hypogo... |
OMIM:601675 |
Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Short stature, Perianal abscess, Leukocytosis, Peritonitis, Recurrent ton... |
ORPHA:2968 |
Simosa Craniofacial Syndrome |
|
Inguinal hernia, Underdeveloped nasal alae, Long nose, Wide nasal bridge, Depressed nasal tip, Ma... |
OMIM:182150 |
Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Anteverted nares, Wide nasal bridge, Intrauterine growth retardation, Failure to thrive, Bilatera... |
ORPHA:50812 |
Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
Extracranial Carotid Artery Aneurysm |
|
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, Total anomalous pulm... |
ORPHA:494424 |
Benign Samaritan Congenital Myopathy |
|
Lethargy, Wide nasal bridge |
ORPHA:324581 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Joint laxity, Lumbar hyperlordosis, Progressive flexion contractures, Ataxia, Equinus calcaneus, ... |
ORPHA:522077 |
Alg3-Cdg |
|
Macroglossia, Abnormal uvula morphology, High palate, Pulmonary hypoplasia |
ORPHA:79321 |
Sifrim-Hitz-Weiss Syndrome |
|
Wormian bones, Ventricular septal defect, Hypogonadotropic hypogonadism, Tapered finger, Flat ace... |
OMIM:617159 |
Achondrogenesis Type 2 |
|
Pierre-Robin sequence, Pulmonary hypoplasia |
ORPHA:93296 |
Cerebral Amyloid Angiopathy, App-Related |
|
Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he... |
OMIM:605714 |
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Malar flattening, Depressed nasal bridge, Hypoplasia of the zygomatic bone, Short nose |
ORPHA:2835 |
Syndromic Diarrhea |
|
Hepatomegaly, Small for gestational age, Short stature, Increased mean platelet volume, Splenomeg... |
ORPHA:84064 |
Teebi-Shaltout Syndrome |
|
Syndactyly, Ulnar deviation of the hand, Ventricular septal defect, Single transverse palmar crea... |
OMIM:272950 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Neoplasm, Myeloproliferative disorder, Obesity |
ORPHA:70591 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Anteverted nares, Prominent nasal bridge, Tapered finger, Repetitive compulsive behavior, Attenti... |
ORPHA:401777 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Anteverted nares, Ventricular septal defect, Hypoplasia of teeth, Short nose, Retrognathia |
OMIM:234050 |
Pseudo-Torch Syndrome 1 |
|
Microretrognathia, Anteverted nares, Seizure, Umbilical hernia, Failure to thrive, Patent foramen... |
OMIM:251290 |
Smith-Lemli-Opitz Syndrome |
|
Micromelia, Micrognathia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Hypoalbumine... |
OMIM:270400 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Increased bone mineral density, Short metacarpal, Anteverted nares, Depressed nasal ... |
ORPHA:50945 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Dec... |
OMIM:619503 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Cerebral vasculitis, Eosinophilia, Subarachnoid hemorrhage, Growth delay, Decreased proportion of... |
OMIM:243700 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Inguinal hernia, Single transverse palmar crease, Broad nasal tip, Wide nasal bridge, Seizure, Fa... |
OMIM:618106 |
Liver Disease, Severe Congenital |
|
Micrognathia, Cardiomegaly, Atrial septal defect, Patent foramen ovale, Joint laxity, Depressed n... |
OMIM:619991 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Hyperactivity, Depressed nasal bridge, Hair-pulling, Wide nasal bridge, Irritability, Dysphagia, ... |
ORPHA:447997 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Abnormal spinal cord morphology, Hydrocephalus |
ORPHA:99947 |
Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Recurrent viral upper respiratory tract infections, Ventricular septal defect |
OMIM:616898 |
Oculoskeletodental Syndrome |
|
Small for gestational age, Elbow flexion contracture, Wide nasal bridge, Thoracic kyphosis, Short... |
OMIM:618440 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Large fontanelles, Anteverted nares, Wide nasal bridge, Micrognathia |
OMIM:602562 |
Plummer-Vinson Syndrome |
|
Iron deficiency anemia, Pallor, Hypochromic microcytic anemia |
ORPHA:54028 |
Dend Syndrome |
|
Hyperglycemia |
ORPHA:79134 |
Momo Syndrome |
|
Delayed eruption of teeth, Short neck, Dental malocclusion, Obesity, Wide nasal bridge, Large han... |
OMIM:157980 |
Scarf Syndrome |
|
Inguinal hernia, Prominent nasal bridge, Short neck, Wide nasal bridge, Abnormal form of the vert... |
OMIM:312830 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Abnormal spinal cord morphology, Acral ulceration, Skin ulcer |
ORPHA:139578 |
Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Micromelia, Micrognathia, Aplasia of the ulna, Short nec... |
ORPHA:2879 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Short stature, Patent ductus arteriosus, Hydrocephalus, Heart murmur, Anemia, Intracranial hemorr... |
ORPHA:163979 |
Wrinkly Skin Syndrome |
|
Osteopenia, Congenital hip dislocation, Generalized joint laxity, Coxa vara, Slender long bones w... |
ORPHA:2834 |
Joubert Syndrome 28 |
|
Joint laxity, Ataxia, Wide nasal bridge |
OMIM:617121 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Short stature, Abnormal erythrocyte enzyme level, Splenomegaly, Increased body weig... |
ORPHA:264580 |
Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
Chand Syndrome |
|
Atelectasis, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenes... |
ORPHA:1401 |
Ctcf-Related Neurodevelopmental Disorder |
|
Osteopenia, Prominent fingertip pads, Inguinal hernia, Broad hallux phalanx, Small for gestationa... |
ORPHA:363611 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Syndactyly, Congenital hip dislocation, Depressed nasal bridge, Cubitus valgus, Hemivertebrae, Wi... |
OMIM:104350 |
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Ataxia, Unsteady gait, Dysmetria, Gait ataxia, Mitral valve prolapse, Progressive cerebellar atax... |
ORPHA:98 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... |
OMIM:600376 |
Orofaciodigital Syndrome Type 1 |
|
Finger syndactyly, Ataxia, Abnormal dental enamel morphology, Tarsal synostosis, Micrognathia, Ch... |
ORPHA:2750 |
Endocrine-Cerebroosteodysplasia |
|
Natal tooth, Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Single transverse palm... |
OMIM:612651 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Micrognathia, Dental malocclusion, Wide nasal bridge, Umbilical hernia, Malar flattening, Hypothy... |
ORPHA:85321 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Mild short stature, Flexion contracture, Short stature, Thin ribs |
OMIM:614833 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Thoracic scoliosis, Single transverse palmar crease, Micrognathia, Choanal stenosis, Atrial septa... |
OMIM:620186 |
Meckel Syndrome 12 |
|
Anteverted nares, Rocker bottom foot, Micrognathia, Wide nasal bridge, Arthrogryposis multiplex c... |
OMIM:616258 |
Craniofacioskeletal Syndrome |
|
Ventricular septal defect, Choanal atresia, Micrognathia, Hypoplastic frontal sinuses, Large font... |
OMIM:300712 |
Congenital Pulmonary Lymphangiectasia |
|
Growth delay, Splenomegaly, Ascites, Hepatomegaly |
ORPHA:2414 |
Monosomy 9P |
|
Anteverted nares, Depressed nasal bridge, Congenital diaphragmatic hernia, Micrognathia, Choanal ... |
ORPHA:261112 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Hypoparathyroidism, Wide nasal bridge, Mitral valve prolapse, Increased carrying angle, Brachydac... |
OMIM:247410 |
Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Sinusitis, Lower limb dysmetria, Micrognathia, Abnormal tibia morphology, Atrial septal defect, A... |
ORPHA:363700 |
American Trypanosomiasis |
|
Myocarditis, Splenomegaly, Congestive heart failure, Cardiomyopathy, Pallor, Arrhythmia |
ORPHA:3386 |
Diamond-Blackfan Anemia 16 |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:617408 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Rhizomelia, Postaxial polydactyly, Unicoronal synostosis, Squared iliac bones, Preaxial polydacty... |
OMIM:616300 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Pallor |
ORPHA:90036 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... |
OMIM:610655 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Short stature, Splenomegaly, Jaundice, Normochromic anemia, Chol... |
OMIM:611881 |
9q subtelomeric deletion syndrome |
|
Short nose, Anteverted nares, Abnormal heart morphology |
DECIPHER:52 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Atrial septal defect, Epileptic spasm, Generalized-onset seizure, Small for gestational age, Vent... |
OMIM:620024 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Anteverted nares, Choanal atresia, Depressed nasal bridge, Short neck, Choanal stenosis, Clinodac... |
OMIM:619859 |
Cerebrocostomandibular Syndrome |
|
Rib gap, 10 pairs of ribs, 11 pairs of ribs, Congenital hip dislocation, Calcaneal epiphyseal sti... |
OMIM:117650 |
Waardenburg Syndrome Type 1 |
|
Mandibular prognathia, Underdeveloped nasal alae, Wide nasal bridge, Scoliosis, Short nose |
ORPHA:894 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
High, narrow palate, Glossoptosis, Submucous cleft hard palate, Hypodontia |
ORPHA:3201 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypoparathyroidism, Brachydactyly, Wide nasal bridge, Mitral valve prolapse, Hypothyroidism, Shor... |
ORPHA:1563 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot... |
OMIM:620300 |
17Q12 Microduplication Syndrome |
|
Finger syndactyly, Toe syndactyly, Seizure, Atrial septal defect, Abnormal vertebral morphology |
ORPHA:261272 |
Pontocerebellar Hypoplasia, Type 7 |
|
Ataxia, Single transverse palmar crease, Broad nasal tip, Micrognathia, Wide nasal bridge, Choreo... |
OMIM:614969 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Neonatal death, Stillbirth, Pulmonary hypoplasia |
OMIM:236500 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Delayed eruption of teeth, Epiphyseal dysplasia, Anteverted nares, Depressed nasal bridge, Inabil... |
ORPHA:1675 |
15q26 overgrowth syndrome |
|
Mandibular prognathia, Long toe, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Micro... |
DECIPHER:81 |
Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Anteverted nares, Micrognathia, Absent radius, Preaxial hand pol... |
ORPHA:233 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Frontotemporal dementia, Agitation, Disinhibition... |
OMIM:607485 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short lingual frenulum, Short uvula, Cleft palate, Agenesis of permanent teeth, Fused teeth, High... |
OMIM:614091 |
Rheumatic Fever |
|
Pericarditis, Epistaxis, Myocarditis, Erythema, Pallor, Arrhythmia |
ORPHA:3099 |
Pseudoaminopterin Syndrome |
|
Single transverse palmar crease, Limited elbow movement, Micrognathia, Patchy reduction of bone m... |
ORPHA:221120 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Peribronchovascular interstitial thickening, Pulmonary situs ... |
ORPHA:244 |
Odontochondrodysplasia 1 |
|
Delayed eruption of teeth, Recurrent respiratory infections, Death in infancy, Pulmonary hypoplas... |
OMIM:184260 |
Acromelic Frontonasal Dysostosis |
|
Tubulonodular pericallosal lipoma, Syndactyly, Broad nasal tip, Bifid nasal tip, Preaxial polydac... |
OMIM:603671 |
Diamond-Blackfan Anemia 7 |
|
Osteopenia, Small hypothenar eminence, Ventricular septal defect, Choanal atresia, Secundum atria... |
OMIM:612562 |
Trisomy 8Q |
|
Camptodactyly of finger, Micrognathia, Joint stiffness, Short neck, Bone cyst, Wide nasal bridge,... |
ORPHA:1752 |
Kaposiform Lymphangiomatosis |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Splenomegaly, Hepatosplenomegaly, Anemia, Abno... |
ORPHA:464329 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Mandibular prognathia, Microretrognathia, Sacral dimple, Tapered finger, Wide nasal bridge, Seizu... |
OMIM:613603 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Small for gestational age, Depressed nasal bridge, Craniosynostosis, Micrognathia, Broad nasal ti... |
OMIM:309590 |
W Syndrome |
|
Hypoplasia of the ulna, Radial bowing, Depressed nasal bridge, Broad uvula, Broad nasal tip, Meta... |
ORPHA:2804 |
Hyper-Igd Syndrome |
|
Neutrophilia, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatosplenomegaly, Lymphadenopathy, Ren... |
OMIM:260920 |
Fountain Syndrome |
|
Erythema, Spina bifida occulta, Short stature, Spina bifida |
ORPHA:3219 |
Roberts-Sc Phocomelia Syndrome |
|
Micrognathia, Short neck, Tetraphocomelia, Knee flexion contracture, Atrial septal defect, Phocom... |
OMIM:268300 |
Kinsship Syndrome |
|
Mandibular prognathia, Micrognathia, Downturned corners of mouth, Short philtrum, Widely spaced t... |
OMIM:619297 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Osteopenia, Arachnodactyly, Pectus excavatum, Thin metacarpal cortices, Thin ribs, Thin metatarsa... |
ORPHA:2463 |
Gm1-Gangliosidosis, Type Ii |
|
Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Sea-blue histiocytosis, Failure to thrive |
OMIM:230600 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Depressed nasal bridge, Rocker bottom foot, Tapered finger, Finger clinodactyly, Seizure, Scolios... |
OMIM:601353 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Vertebral fusion, Inguinal hernia, Syndactyly, Anteverted nares, Prominent nasal bridge, Down-slo... |
OMIM:227330 |
Limb Body Wall Complex |
|
Ventral hernia, Duplication of hand bones, Ventricular septal defect, Depressed nasal bridge, Con... |
ORPHA:2369 |
1P21.3 Microdeletion Syndrome |
|
Abnormal eating behavior, Aggressive behavior, Micrognathia, Broad nasal tip, Shyness, Wide mouth... |
ORPHA:293948 |
Acute Radiation Syndrome |
|
Lymphopenia, Granulocytopenia, Thrombocytopenia |
ORPHA:454831 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... |
ORPHA:276621 |
Scarf Syndrome |
|
Craniosynostosis, Short neck, Abnormal form of the vertebral bodies, Pectus carinatum, Joint hype... |
ORPHA:3134 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Anteverted nares, Reduced bone mineral density, Joint hyperflexibility, Slender long bone, Cubitu... |
ORPHA:1185 |
19P13.13 Microdeletion Syndrome |
|
Depressed nasal bridge, Anteverted nares, Sandal gap, Long fingers, Clinodactyly, Seizure, Attent... |
ORPHA:357001 |
Cranioectodermal Dysplasia 1 |
|
Bicuspid aortic valve, Single transverse palmar crease, Joint laxity, Anteverted nares, Rhizomeli... |
OMIM:218330 |
Steinert Myotonic Dystrophy |
|
Decreased response to growth hormone stimulation test, Non-medullary thyroid carcinoma, Male hypo... |
ORPHA:273 |
Gracile Bone Dysplasia |
|
Short stature, Flared metaphysis, Thin ribs, Slender long bone, Decreased skull ossification, Bra... |
OMIM:602361 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Pancytopenia, Lymphoproliferative disorder, Portal hypertension, Splenomegaly, Leuk... |
OMIM:615688 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Abnormal lymphocyte morphology, Failure to thrive, Severe B lymphocytopenia, Autoimmune thrombocy... |
ORPHA:293978 |
Fanconi Anemia |
|
Micrognathia, Abnormal femur morphology, Reduced bone mineral density, Triphalangeal thumb, Atria... |
ORPHA:84 |
Familial Hyperaldosteronism Type I |
|
Intracranial hemorrhage, Hypertension, Epistaxis |
ORPHA:403 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Thin upper lip vermilion, Pierre-Robin sequence, Cleft soft palate |
OMIM:620183 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ... |
ORPHA:53035 |
Sepsis In Premature Infants |
|
Hepatomegaly, Small for gestational age, Splenomegaly, Leukocytosis, Jaundice, Anemia, Neutropeni... |
ORPHA:90051 |
Kbg Syndrome |
|
Vertebral fusion, Syndactyly, Short stature, Short neck, Rib fusion, Vertebral arch anomaly, Cuta... |
OMIM:148050 |
Familial Adenomatous Polyposis |
|
Abnormality of the dentition, Supernumerary tooth, Eruption failure, Odontoma, Abnormal cementum ... |
ORPHA:733 |
Anophthalmia Plus Syndrome |
|
Spina bifida |
ORPHA:1104 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Disproportionate short stature, Lymphopenia, Eosinophilia, Hepatic cysts |
OMIM:617425 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular... |
OMIM:177850 |
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Atrial septal defect, Short metatarsal, Type E brachydactyly, Short 4th metacarpal |
OMIM:113301 |
Heterotaxy, Visceral, 1, X-Linked |
|
Congenital hip dislocation, Cardiomegaly, Dextrotransposition of the great arteries, Atrial septa... |
OMIM:306955 |
Adenylosuccinase Deficiency |
|
Prominent metopic ridge, Anteverted nares, Inability to walk, Gait ataxia, Seizure, Myoclonus, Sh... |
OMIM:103050 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Short stature, Splenomegaly, Growth delay, Intrauterine growth retardation |
OMIM:618541 |
Ectodermal Dysplasia With Mental Retardation And Syndactyly |
|
3-4 finger syndactyly, Wide nasal bridge, 2-3 toe syndactyly |
OMIM:600906 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Micrognathia, Cardi... |
ORPHA:3472 |
Mucopolysaccharidosis, Type Ix |
|
Submucous cleft hard palate, Bifid uvula |
OMIM:601492 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Inguinal hernia, Rhizomelia, Short iliac bones, Metaphyseal widening, Wide nasal bridge, Short fo... |
OMIM:614376 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Congenital diaphragmatic hernia, Vertebral segmentation defect, Narrow gre... |
OMIM:312870 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis |
ORPHA:59303 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Atelectasis, Pleural effusion, Hypersensitivity pneumonitis |
ORPHA:2902 |
Renal Agenesis, Bilateral |
|
Non-midline cleft lip, Tracheoesophageal fistula, Cleft palate, Abnormal intestine morphology, Pu... |
ORPHA:1848 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Seizure, Patent foramen ovale, Attention deficit hyperactivity disorder |
OMIM:617182 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Single transverse palmar crease, Long nose, Clinodactyly of the 5th finger, Atrial septal defect,... |
OMIM:619522 |
Cranioectodermal Dysplasia 2 |
|
Joint laxity, Syndactyly, Inguinal hernia, Left ventricular hypertrophy, Depressed nasal bridge, ... |
OMIM:613610 |
Craniofrontonasal Syndrome |
|
Joint laxity, Toe syndactyly, Broad hallux, Down-sloping shoulders, Congenital diaphragmatic hern... |
OMIM:304110 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Failure to thrive |
OMIM:235555 |
Chronic Granulomatous Disease |
|
Hepatomegaly, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopathy |
ORPHA:379 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus, Glycosuria, Hyperglycemia, Pancreatic hypoplasia, R... |
ORPHA:99885 |
Spondyloocular Syndrome |
|
Osteopenia, Long toe, Arachnodactyly, Femur fracture, Overlapping toe, Long fingers, Unsteady gai... |
OMIM:605822 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... |
OMIM:619849 |
B4Galt1-Cdg |
|
Hypothyroidism, Wide nasal bridge, Small for gestational age, Elevated circulating creatine kinas... |
ORPHA:79332 |
1P31P32 Microdeletion Syndrome |
|
Intraventricular hemorrhage, Tethered cord, Moyamoya phenomenon |
ORPHA:401986 |
Pontocerebellar Hypoplasia, Type 10 |
|
Kyphoscoliosis, Underdeveloped nasal alae, Tapered finger, Short neck, Bulbous nose, Wide nasal b... |
OMIM:615803 |
Familial Hyperaldosteronism Type Ii |
|
Intracranial hemorrhage, Hypertension, Epistaxis |
ORPHA:404 |
Pfeiffer Syndrome Type 3 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,... |
ORPHA:93260 |
Tetramelic Monodactyly |
|
Split foot, Split hand, Foot monodactyly, Hand monodactyly |
OMIM:187510 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Exencephaly |
ORPHA:2211 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Ataxia, Depressed nasal ridge, Absent nasal septal cartilage, Hip dislocation, Sacral lipoma |
ORPHA:2003 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Delayed eruption of teeth, Broad-based gait, Abnormality of the pineal gland, Micrognathia, Obesi... |
ORPHA:369950 |
Vater/Vacterl Association |
|
Syndactyly, Postnatal growth retardation, Short thumb, Absent radius, Hypoplasia of the radius, A... |
OMIM:192350 |
Sitosterolemia 1 |
|
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly... |
OMIM:210250 |
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome |
|
Seizure, Wide nasal bridge, Scoliosis, Short distal phalanx of finger |
ORPHA:1970 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Short stature, Postnatal growth retardation, Splenomegaly, Increased body weight, H... |
ORPHA:79240 |
Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Hepatitis, Leukopenia, Lymphopenia, Thrombocytopenia |
ORPHA:319218 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Osteopenia, Thoracic kyphoscoliosis, Inguinal hernia, Widened atrophic scar, Thoracic scoliosis, ... |
ORPHA:1900 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Pulmonary hypoplasia |
OMIM:616867 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Hypertension, Epistaxis, Intracranial hemorrhage |
ORPHA:251274 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Pulmonary hypoplasia |
OMIM:616733 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Short stature, Splenomegaly, Anemia, Leukopenia, Truncal obesity, Hemophagocytosis,... |
OMIM:222700 |
Noonan Syndrome With Multiple Lentigines |
|
Abnormal endocardium morphology, Scapular winging, Abnormal pulmonary valve morphology, Spina bif... |
ORPHA:500 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Mandibular prognathia, Short fourth metatarsal, Micrognathia, Short philtrum, Widely spaced teeth... |
OMIM:619841 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal stroma tumor, Esophageal neoplasm, Abnormality of the liver, Anemia, Sarcoma |
ORPHA:44890 |
Renpenning Syndrome 1 |
|
Mandibular prognathia, Ventricular septal defect, Micrognathia, Situs inversus totalis, Bulbous n... |
OMIM:309500 |
Immunodeficiency 59 And Hypoglycemia |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:233600 |
Specc1L-Related Hypertelorism Syndrome |
|
Omphalocele, Atrial septal defect, Finger syndactyly, Ventricular septal defect, Prominent nasal ... |
ORPHA:1519 |
Intellectual Developmental Disorder, Autosomal Recessive 47 |
|
Focal impaired awareness seizure, Mitral valve prolapse |
OMIM:616193 |
Ehlers-Danlos Syndrome, Hypermobility Type |
|
Joint laxity, Osteoarthritis, Joint hypermobility, Mitral valve prolapse |
OMIM:130020 |
Ring Chromosome 7 Syndrome |
|
Mandibular prognathia, Anteverted nares, Prominent nasal bridge, Single transverse palmar crease,... |
ORPHA:1449 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Depressed nasal bridge, Anteverted nares, Single transverse palmar crease, Broad hallux, Bulbous ... |
OMIM:614105 |
Hunter-Macdonald Syndrome |
|
Epiphyseal dysplasia, Inguinal hernia, Bicuspid aortic valve, Cubitus valgus, Metatarsus adductus... |
OMIM:611962 |
Vascular Hyalinosis |
|
Hematochezia, Vascular dilatation, Subarachnoid hemorrhage |
OMIM:277175 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Omphalocele, Overriding aorta, Depressed nasal bridge, Ventricular septal defect, Broad nasal tip... |
OMIM:601927 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Second degree atrioventricular block, Pulmonary... |
ORPHA:369929 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Inguinal hernia, Generalized-onset seizure, Ataxia, Small for gestational age, Bicuspid aortic va... |
OMIM:220111 |
Ulbright-Hodes Syndrome |
|
Short humerus, Short metacarpal, Short neck, Postnatal growth retardation, Humeroradial synostosi... |
ORPHA:3404 |
Noonan Syndrome 14 |
|
Scapular winging, Prominent nasal bridge, Short neck, Kyphosis, Clinodactyly, Mitral valve prolap... |
OMIM:619745 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... |
ORPHA:137675 |
Carey-Fineman-Ziter Syndrome |
|
Anteverted nares, Micrognathia, Aplasia of the pectoralis major muscle, Ulnar deviation of finger... |
ORPHA:1358 |
Atrial Septal Defect 2 |
|
Ventricular septal defect, Dextrocardia, Pulmonic stenosis, Atrial septal defect, Atrioventricula... |
OMIM:607941 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Failure to thrive, Splenomegaly, Jaundice... |
OMIM:615512 |
Amish Lethal Microcephaly |
|
Death in infancy, Cleft soft palate |
ORPHA:99742 |
1P36 Deletion Syndrome |
|
Depressed nasal ridge, Clinodactyly of the 5th finger, Hypothyroidism, Depressed nasal bridge, Di... |
ORPHA:1606 |
Degcags Syndrome |
|
Osteopenia, Micrognathia, Prominent nose, Atrial septal defect, Patent foramen ovale, Syndactyly,... |
OMIM:619488 |
Hermansky-Pudlak Syndrome 2 |
|
Hepatomegaly, Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Hepatospleno... |
OMIM:608233 |
Hereditary Orotic Aciduria |
|
Splenomegaly, Patent ductus arteriosus, Anemia |
ORPHA:30 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Erythema, Reticulocytopenia, Pallor, Neutro... |
OMIM:557000 |
Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Joint laxity, Inguinal hernia, Calcaneovalgus deformity, Mitral valve prolapse, Atrophic scars |
OMIM:225320 |
Developmental And Epileptic Encephalopathy 100 |
|
Tented upper lip vermilion, Depressed nasal bridge, Micrognathia, Broad nasal tip, Protruding ton... |
OMIM:619777 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Zimmermann-Laband Syndrome 1 |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Delayed eruption of teeth, Broad ... |
OMIM:135500 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Short stature, Missing ribs, Postnatal growth retardation, Rib fusion, Hemivert... |
OMIM:206900 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Hypoplastic tricuspid valve, Double outlet left ventricle, Small for gestational age, Ventricular... |
ORPHA:2255 |
Arboleda-Tham Syndrome |
|
Mandibular prognathia, Secundum atrial septal defect, Atrial septal defect, Genu varum, Microretr... |
OMIM:616268 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Hepatomegaly, Short stature, Micronodular cirrhosis, Obesity, Abnormal granulocyte morphology, He... |
ORPHA:98907 |
Leopard Syndrome 1 |
|
Mandibular prognathia, Scapular winging, Limited elbow movement, Short neck, Delayed menarche, Co... |
OMIM:151100 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Syndactyly, Short metacarpal, Underdeveloped nasal alae, Micrognathia, Short neck, Wide nasal bri... |
OMIM:614230 |
Legionnaires Disease |
|
Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Bone marrow hypocellularity, Lymphopenia, Pan... |
ORPHA:549 |
46,Xx Sex Reversal 5 |
|
Ventricular septal defect, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Hypo... |
OMIM:618901 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Cerebellar hemorrhage, Leukopenia, Cardiomyopathy, Neutropenia, Thrombocytopenia |
OMIM:251000 |
Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Chole... |
OMIM:300972 |
Hydrolethalus |
|
Submucous cleft hard palate, Cleft palate, Gingival cleft, Unilateral cleft lip, Bifid uvula |
ORPHA:2189 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ... |
ORPHA:1647 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Inguinal hernia, Recurrent fractures, Reduced bone mineral density, Scoliosis, Atrial septal defe... |
OMIM:619115 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Tethered cord, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Hy... |
OMIM:600145 |
Coffin-Siris Syndrome 1 |
|
Single transverse palmar crease, Congenital diaphragmatic hernia, Gait ataxia, Prominent interpha... |
OMIM:135900 |
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy |
|
Depressed nasal bridge, Wide nasal bridge, Status epilepticus |
OMIM:615760 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly |
ORPHA:664 |
Gray Platelet Syndrome |
|
Splenomegaly, Thrombocytopenia, Abnormal number of alpha granules |
OMIM:139090 |
Gabriele-De Vries Syndrome |
|
Waddling gait, Hallux valgus, Small for gestational age, Decreased response to growth hormone sti... |
ORPHA:506358 |
Absent Eyebrows And Eyelashes With Mental Retardation |
|
Short nose, Convex nasal ridge |
OMIM:200130 |
Diamond-Blackfan Anemia 21 |
|
Hallux valgus, Sandal gap, Tapered finger, Secundum atrial septal defect, Micrognathia, Short toe... |
OMIM:620072 |
Short-Rib Thoracic Dysplasia 12 |
|
Hypoplastic scapulae, Bowing of the legs, Bowing of the arm, Short neck, Short toe, Short thorax,... |
OMIM:269860 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Postnatal growth retardation, Coat hanger sign of ribs, Thoracic hypoplasia |
ORPHA:254534 |
Kagami-Ogata Syndrome |
|
Kyphoscoliosis, Coxa valga, Postnatal growth retardation, Short neck, Limitation of joint mobilit... |
ORPHA:254519 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Short attention span, Progressive psychomotor deterioration, Progressive gait ataxia, Emotional l... |
ORPHA:309263 |
Chops Syndrome |
|
Ventricular septal defect, Anteverted nares, Obesity, Anomalous pulmonary venous return, Tracheom... |
OMIM:616368 |
Pseudo-Torch Syndrome 3 |
|
Cerebral hemorrhage, Leukocytosis, Hypertension, Congenital thrombocytopenia, Anemia |
OMIM:618886 |
Histidinuria Due To A Renal Tubular Defect |
|
Generalized myoclonic seizure, Short middle phalanx of finger, Wide nasal bridge, Rounded middle ... |
OMIM:235830 |
Medulloblastoma |
|
Cerebellar hemorrhage, Hydrocephalus, Spinal cord tumor |
ORPHA:616 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Odontoma, Supernumerary tooth |
ORPHA:247806 |
Niemann-Pick Disease, Type C1 |
|
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis, Prolon... |
OMIM:257220 |
Marfan Syndrome |
|
Osteopenia, Mitral valve calcification, Arthralgia/arthritis, Inguinal hernia, Arachnodactyly, Li... |
ORPHA:558 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Omphalocele, Short femur, Ventricular septal defect, Foot oligodactyly, Scoliosis |
OMIM:601357 |
White-Kernohan Syndrome |
|
Joint laxity, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Obesity, Hip d... |
OMIM:619426 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Mandibular prognathia, Prominent metopic ridge, Tapered finger, Long fingers, Calcaneovalgus defo... |
ORPHA:521445 |
Agammaglobulinemia, X-Linked |
|
Hepatocellular carcinoma, Enteroviral hepatitis, T lymphocytopenia, Lymph node hypoplasia, B lymp... |
OMIM:300755 |
Pontine Tegmental Cap Dysplasia |
|
Ankle clonus, Rib fusion, Hemivertebrae, Scoliosis |
OMIM:614688 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Arachnodactyly, Infantile spasms, Secundum atrial septal defect, Seizure, Transposition of the gr... |
OMIM:619910 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly |
OMIM:619183 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Postaxial hand polydactyly, Abnormal rib morphology, Abnormal sternum morphology, Short ribs, Bro... |
ORPHA:2519 |
Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale |
OMIM:611363 |
Congenital Disorder Of Glycosylation, Type 2V |
|
Underdeveloped nasal alae, Bulbous nose, Wide nasal bridge, Talipes equinovarus, Retrognathia, Lo... |
OMIM:619493 |
Fanconi Renotubular Syndrome 5 |
|
Emphysema, Pulmonary fibrosis, Lung adenocarcinoma |
OMIM:618913 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Giant cell hepatitis, Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Acholic sto... |
OMIM:607765 |
Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Osteopenia, Bicuspid aortic valve, Atrial septal defect, Hypothyroidism, Patent foramen ovale, Jo... |
ORPHA:438213 |
Generalized Pustular Psoriasis |
|
Overweight, Leukocytosis, Lymphopenia, Obesity |
ORPHA:247353 |
Fetal Akinesia Deformation Sequence |
|
Intestinal hypoplasia, Pulmonary hypoplasia, Cleft palate |
ORPHA:994 |
Limb-Mammary Syndrome |
|
Syndactyly, Toe syndactyly, 3-4 finger cutaneous syndactyly, Clinodactyly of the 5th finger, Mala... |
ORPHA:69085 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Bilateral tonic-clonic seizure, Myoclonic seizure, Biventricular hyper... |
OMIM:615474 |
Hemorrhagic Fever-Renal Syndrome |
|
Shock, Tachycardia, Petechiae, Epistaxis, Hematemesis, Leukocytosis, Capillary leak, Intracranial... |
ORPHA:340 |
Mucopolysaccharidosis, Type Iiid |
|
Epiphyseal dysplasia, Thoracic scoliosis, Thickened ribs, Short stature, Pilonidal sinus, Joint s... |
OMIM:252940 |
Denys-Drash Syndrome |
|
Neonatal death, Wide anterior fontanel, Posterolateral diaphragmatic hernia, Congenital diaphragm... |
OMIM:194080 |
Mass Syndrome |
|
Arachnodactyly, Scoliosis, Mitral valve prolapse |
OMIM:604308 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Anteverted nares, Wide nasal bridge, Seizure, Scoliosis, Intrauterine growth retardation |
ORPHA:2518 |
Keutel Syndrome |
|
Sinusitis, Ventricular septal defect, Cartilaginous ossification of nose, Depressed nasal bridge,... |
OMIM:245150 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Adrenal hypoplasia, Mitral valve prolapse, Joint hyperflexibility, Spina bifida occulta, Joint hy... |
ORPHA:230839 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly, Pectus carinatum, D... |
OMIM:263520 |
Pediatric Systemic Lupus Erythematosus |
|
Lymphadenopathy, Leukopenia, Ascites, Microangiopathic hemolytic anemia, Lymphopenia, Thrombocyto... |
ORPHA:93552 |
Tetraamelia-Multiple Malformations Syndrome |
|
Aplasia/Hypoplasia involving the pelvis, Abnormally ossified vertebrae, Abnormal rib morphology, ... |
ORPHA:3301 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Hepatomegaly, Short stature, Splenomegaly, Jaundice, Growth delay, Stomatocytosis |
OMIM:608885 |
Tolchin-Le Caignec Syndrome |
|
Arachnodactyly, Micrognathia, Precocious puberty, Prominent nose, Wide nasal bridge, Cardiac rhab... |
OMIM:618971 |
Toluene Embryopathy |
|
Tapered finger, Short nose, Hypoplasia of the zygomatic bone, Micrognathia |
ORPHA:1920 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hip contracture, Anteverted nares, Depressed nasal bridge, Generalized myoclonic seizure, Microgn... |
OMIM:300868 |
Proximal Spinal Muscular Atrophy |
|
Multiple joint contractures, Inability to walk, Flexion contracture, Elbow flexion contracture, H... |
ORPHA:70 |
Trichohepatoenteric Syndrome 2 |
|
Depressed nasal bridge, Small for gestational age, Wide nasal bridge, Intrauterine growth retarda... |
OMIM:614602 |
Fusariosis |
|
Brain abscess, Lung abscess, Hematological neoplasm, Abnormality of the spleen, Peritonitis, Abno... |
ORPHA:228119 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, Pr... |
ORPHA:99901 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Esophageal atresia, Tracheoesophageal fistula, Pulmonary hypoplasia, Neonatal death, Anal atresia |
OMIM:314390 |
Whim Syndrome |
|
Lymphadenitis, Abnormal neutrophil morphology, Papilloma, Cutaneous melanoma, Neutropenia, Cervix... |
ORPHA:51636 |
Feingold Syndrome 1 |
|
Ventricular septal defect, Tricuspid stenosis, Anteverted nares, Micrognathia, Short thumb, Short... |
OMIM:164280 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... |
OMIM:602347 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Short attention span, Depressed nasal bridge, Malar flattening, Aggressive behavior, Tapered fing... |
OMIM:301066 |
Menke-Hennekam Syndrome 1 |
|
Micrognathia, Flexion contracture, Depressed nasal ridge, Cutaneous syndactyly of toes, Clinodact... |
OMIM:618332 |
Triploidy |
|
Intrauterine growth retardation, Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:3376 |
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Split foot, Split hand, Hand monodactyly |
OMIM:183800 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Stillbirth, Abnormal lung lobation, Pulmonary hypoplasia |
OMIM:615415 |
Velocardiofacial Syndrome |
|
Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robin sequence, Cleft palate, U... |
OMIM:192430 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Wide nose, Congenital hip dislocation, Ventricular se... |
OMIM:606170 |
Ramos-Arroyo Syndrome |
|
Anteverted nares, Depressed nasal bridge, Carious teeth, Severe failure to thrive, Choanal stenos... |
ORPHA:1051 |
Doors Syndrome |
|
Adrenal hyperplasia, Abnormal finger morphology, Hemivertebrae, Triphalangeal thumb, Clinodactyly... |
ORPHA:79500 |
Bilateral Generalized Polymicrogyria |
|
Self-injurious behavior, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia |
ORPHA:208447 |
Hijazi-Reis Syndrome |
|
Abnormal repetitive mannerisms, Gait disturbance |
OMIM:301094 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse |
OMIM:614676 |
Beemer-Ertbruggen Syndrome |
|
Bulbous nose, Increased bone mineral density, Wide nasal bridge, Micrognathia |
ORPHA:1237 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Leukopenia, Ecchymosis, Internal hemorrh... |
ORPHA:99827 |
Fish-Eye Disease |
|
Splenomegaly, Lymphadenopathy, Hepatomegaly |
ORPHA:79292 |
Laubry-Pezzi Syndrome |
|
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... |
ORPHA:99094 |
Alström Syndrome |
|
Abnormality of dental color, Thoracic scoliosis, Decreased response to growth hormone stimulation... |
ORPHA:64 |
Coffin-Siris Syndrome 12 |
|
Micrognathia, Hypothyroidism, Patent foramen ovale, Joint laxity, Anteverted nares, Depressed nas... |
OMIM:619325 |
Monosomy 22Q13.3 |
|
Hyperactivity, Dental crowding, Impaired pain sensation, Hair-pulling, Bulbous nose, Dental maloc... |
ORPHA:48652 |
Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
Pterygium Colli, Isolated |
|
Short nose |
OMIM:177990 |
Oculoectodermal Syndrome |
|
Giant cell granuloma of mandible, Depressed nasal bridge, Short neck, Wide nasal bridge, Pineal c... |
OMIM:600268 |
Okamoto Syndrome |
|
Omphalocele, Prominent metopic ridge, Ventricular septal defect, Anteverted nares, Depressed nasa... |
ORPHA:2729 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Broad-based gait, Scapular winging, Ataxia, Dilated cardiomyopathy, Dysmetria, Gait ataxia, Weigh... |
OMIM:607459 |
Lathosterolosis |
|
Toe syndactyly, Anteverted nares, Micrognathia, Lumbosacral meningocele, Postaxial hand polydacty... |
OMIM:607330 |
Czeizel-Losonci Syndrome |
|
Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida |
ORPHA:2437 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Micrognathia, 2-3 toe cutaneous syndactyly, Dysmetria, Gait ataxia, Downturned corners of mouth, ... |
OMIM:614756 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Enteroviral hepatitis, Short stature, Absent circulating B cells, Delayed puberty |
OMIM:307200 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... |
OMIM:619573 |
Platyspondylic Dysplasia, Torrance Type |
|
Pulmonary hypoplasia, Cleft palate |
ORPHA:85166 |
Meckel Syndrome, Type 6 |
|
Bilobed right lung, Pulmonary hypoplasia, Cleft palate, Cleft upper lip |
OMIM:612284 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thrombocytopenia |
OMIM:153670 |
Neurooculorenal Syndrome |
|
Decreased circulating cortisol level, Ectopic posterior pituitary, Dextrocardia, Short hallux, Mi... |
OMIM:620305 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, B-cell lymphoma, Follicular hyperplasia, Splenomegaly, Hep... |
OMIM:619381 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Hyperglycemia, Hypoglycemia |
ORPHA:134 |
Double Outlet Right Ventricle |
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Intestinal malrotation, Submucous cleft hard palate, Cleft palate, Narrow mouth, Pulmonary artery... |
ORPHA:3426 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Osteopenia, Joint laxity, Joint dislocation, Congenital hip dislocation, Arachnodactyly, Protrusi... |
OMIM:225400 |
Postaxial Oligodactyly, Tetramelic |
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Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... |
OMIM:176240 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Subdural hemorrhage, Retinal hemorrhage |
ORPHA:25 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
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Congenital hip dislocation, Ataxia, Micrognathia, Pectus excavatum, Fractures of the long bones, ... |
ORPHA:496641 |
Metachromatic Leukodystrophy, Late Infantile Form |
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Gait ataxia, Progressive gait ataxia, Tip-toe gait, Emotional lability, Abnormal social behavior |
ORPHA:309256 |
Mixed Connective Tissue Disease |
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Hemolytic anemia, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Leuko... |
ORPHA:809 |
Focal Facial Dermal Dysplasia Type Iii |
|
Abnormal sacroiliac joint morphology, Depressed nasal ridge, Wide nasal bridge |
ORPHA:1807 |
Microphthalmia With Linear Skin Defects Syndrome |
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Wide nose, Sacral dimple, Abnormal dental enamel morphology, Congenital diaphragmatic hernia, Mic... |
ORPHA:2556 |
C Syndrome |
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Omphalocele, Sacral dimple, Toe syndactyly, Failure to thrive in infancy, Anteverted nares, Conge... |
ORPHA:1308 |
Transketolase Deficiency |
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Ventricular septal defect, Abnormal heart morphology, Attention deficit hyperactivity disorder, T... |
ORPHA:488618 |
Orofaciodigital Syndrome Type 4 |
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Finger syndactyly, Wide nose, Camptodactyly of finger, Choanal atresia, Micrognathia, Micromelia,... |
ORPHA:2753 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
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Microretrognathia, Multiple prenatal fractures, Secundum atrial septal defect, Flexion contractur... |
OMIM:616866 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
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Megaloblastic anemia, Intraventricular hemorrhage, Growth delay, Neutropenia, Intrauterine growth... |
ORPHA:79284 |
Jung Syndrome |
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Depressed nasal bridge, Hypothyroidism, Wide nasal bridge, Abnormal form of the vertebral bodies |
ORPHA:2321 |
Ciliary Dyskinesia, Primary, 1 |
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Pneumonia, Atelectasis, Bronchiectasis, Recurrent bronchitis |
OMIM:244400 |
Budd-Chiari Syndrome |
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Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Weight loss, Cholecystiti... |
ORPHA:131 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
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Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171420 |
Mitral Valve Prolapse 1 |
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Reversed usual vertebral column curves, Mitral valve prolapse |
OMIM:157700 |
Craniotubular Dysplasia, Ikegawa Type |
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Metaphyseal dysplasia, Short stature, Broad femoral neck, Increased intervertebral space, Broad i... |
OMIM:619727 |
Boomerang Dysplasia |
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Underdeveloped nasal alae, Absent radius, Wide nasal bridge, Hypoplastic nasal septum, Hypoplasti... |
OMIM:112310 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
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Depressed nasal bridge, Single transverse palmar crease, Bilateral tonic-clonic seizure, Broad na... |
ORPHA:466950 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
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Mandibular prognathia, Reduced subcutaneous adipose tissue, Prominent nasal bridge, Long nose, Wi... |
OMIM:137940 |
Loeys-Dietz Syndrome 1 |
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Joint laxity, Bicuspid aortic valve, Arachnodactyly, Craniosynostosis, Micrognathia, Postaxial ha... |
OMIM:609192 |
Cardiofaciocutaneous Syndrome 2 |
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Anteverted nares, Mitral valve prolapse |
OMIM:615278 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Ventricular septal defect, Down-sloping shoulders, Micrognathia, Kyphosis, Clin... |
ORPHA:1724 |
Vici Syndrome |
|
Decreased circulating IgG level, Wide nose, Left ventricular hypertrophy, Elevated circulating cr... |
OMIM:242840 |
Cerebrocostomandibular Syndrome |
|
Short stature, Spina bifida, Myelomeningocele, Meningocele, Hydranencephaly, Intrauterine growth ... |
ORPHA:1393 |
Bile Acid Synthesis Defect, Congenital, 3 |
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Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepati... |
OMIM:613812 |
Hereditary Pheochromocytoma-Paraganglioma |
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Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... |
ORPHA:29072 |
Cardiac Valvular Dysplasia, X-Linked |
|
Joint laxity, Bicuspid aortic valve, Joint stiffness, Short chordae tendineae of the tricuspid va... |
OMIM:314400 |
Absent Radius-Anogenital Anomalies Syndrome |
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Hypoplasia of the radius, Ectrodactyly, Oligodactyly |
ORPHA:3016 |
Pericardial And Diaphragmatic Defect |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, Abnormal heart morphology, Hypoxemia, Apl... |
ORPHA:2847 |
Gaucher Disease, Type Ii |
|
Hepatomegaly, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia |
OMIM:230900 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233710 |
Congenital Myopathy 17 |
|
Tented upper lip vermilion, Respiratory tract infection, Dental malocclusion, Cleft palate, High ... |
OMIM:618975 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
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Microretrognathia, Scapular winging, Down-sloping shoulders, Tapered finger, Carious teeth, Denta... |
OMIM:615560 |
Pseudotrisomy 13 Syndrome |
|
Omphalocele, Ventricular septal defect, Dextrocardia, Adrenal hypoplasia, Complete atrioventricul... |
OMIM:264480 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hip contracture, Broad nasal tip, Short neck, Kyphosis, Elbow flexion contracture, Wide nasal bri... |
OMIM:619194 |
Hyperparathyroidism, Neonatal Severe |
|
Splenomegaly, Failure to thrive, Anemia, Hepatomegaly |
OMIM:239200 |
Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Facial erythema |
ORPHA:439218 |
Neu-Laxova Syndrome 1 |
|
Micromelia, Micrognathia, Short neck, Calcaneovalgus deformity, Depressed nasal ridge, Neonatal d... |
OMIM:256520 |
Monosomy 22 |
|
Aplasia of the thymus, Schwannoma, Hypochromic microcytic anemia, Hepatosplenomegaly, Gonadal neo... |
ORPHA:96123 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Anterior concavity of thoracic verte... |
OMIM:216340 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
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Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave |
ORPHA:231625 |
Restrictive Dermopathy |
|
Osteopenia, Natal tooth, Aplasia/Hypoplasia involving the nose, Multiple joint contractures, Thor... |
ORPHA:1662 |
Faciocardiorenal Syndrome |
|
Underdeveloped nasal alae, Wide nasal bridge, Tricuspid valve prolapse, Endocardial fibroelastosi... |
ORPHA:1973 |
Alpha-Mannosidosis, Infantile Form |
|
Osteopenia, Joint laxity, Thickened ribs, Craniosynostosis, Joint stiffness, Pectus excavatum, Sh... |
ORPHA:309282 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
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Proximal placement of thumb, Micrognathia, Prominent nose, High palate, Clinodactyly of the 5th f... |
OMIM:268305 |
Sirenomelia |
|
Spina bifida, Sirenomelia |
ORPHA:3169 |
Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Micrognathia, Bicuspid pulmonary valve, Atrial septal defect, Joint laxity... |
OMIM:610168 |
Reni Syndrome |
|
Lymphopenia |
OMIM:617575 |
White-Sutton Syndrome |
|
Thin upper lip vermilion, Hyperactivity, Depressed nasal bridge, Aggressive behavior, Broad nasal... |
ORPHA:468678 |
Marfan Syndrome |
|
Bicuspid aortic valve, Micrognathia, Incisional hernia, Equinus calcaneus, Flexion contracture, A... |
OMIM:154700 |
Perlman Syndrome |
|
Hypoglycemia, Depressed nasal bridge, Congenital diaphragmatic hernia, Large for gestational age,... |
OMIM:267000 |
Distal Deletion 9P |
|
Short neck, Wide nasal bridge, Hernia, Short nose, Brachydactyly |
ORPHA:1642 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest... |
OMIM:227810 |
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, Scoliosis, Subval... |
OMIM:619461 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Elevated circulating creatine kinase concentration, Spinal rigidity, Dilated cardiomyopathy, Flex... |
OMIM:253800 |
Trisomy 1Q |
|
Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial hand polydactyly, Short thorax,... |
ORPHA:261344 |
Thoracoabdominal Syndrome |
|
Pulmonary hypoplasia, Cleft palate, Cleft upper lip |
OMIM:313850 |
Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Short stature, Splenomegaly, Jaundice, Cholestasis, Hepatic bridging fibrosis, Hepa... |
OMIM:618641 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Perianal abscess, Weight loss, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced nat... |
OMIM:301074 |
Avian Influenza |
|
Leukopenia, Lymphopenia, Hepatitis, Thrombocytopenia |
ORPHA:454836 |
Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Maternal diabetes, Hypoplastic left heart, Atrial septal defect, Mitral stenosis |
ORPHA:2248 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233690 |
Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Bicuspid aortic valve, Micrognathia, Mitral valve prolapse, Scoliosis, Joint hypermobility, Right... |
ORPHA:555877 |
Focal Dermal Hypoplasia |
|
Cleft ala nasi, Congenital hip dislocation, Congenital diaphragmatic hernia, Osteopathia striata,... |
OMIM:305600 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Thin upper lip vermilion, Atelectasis, Abnormal pulmonary interstitial morphology, Bronchiectasis... |
OMIM:620233 |
Hermansky-Pudlak Syndrome 10 |
|
Hepatomegaly, Splenomegaly, Neutropenia |
OMIM:617050 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Neonatal death, Intrauterine growth retardation, Prolonged prothrombin time, Intraventricular hem... |
OMIM:619055 |
Iniencephaly |
|
Encephalocele, Rhizomelia, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dys... |
ORPHA:63259 |
Pelvis-Shoulder Dysplasia |
|
Short stature, Spina bifida, Mesomelic/rhizomelic limb shortening, Hydrocephalus, Neonatal short-... |
ORPHA:2839 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... |
OMIM:614980 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Abnormality of the pancreas, Lymphopenia, Anemia |
ORPHA:935 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Inguinal hernia, Ataxia, Anteverted nares, Depressed nasal bridge, Arachnodactyly, Abnormal thumb... |
ORPHA:2719 |
Lateral Meningocele Syndrome |
|
Umbilical hernia, Meningocele, Syringomyelia, Dural ectasia |
ORPHA:2789 |
Peters Plus Syndrome |
|
Micromelia, Micrognathia, Short neck, Bicuspid pulmonary valve, Clinodactyly of the 5th finger, S... |
ORPHA:709 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Thick upper lip vermilion, Broad-based gait, Pain insensitivity, Ataxia, Anteverted nares, Promin... |
OMIM:617330 |
Arthrogryposis, Distal, Type 3 |
|
Submucous cleft hard palate, High palate, Bifid uvula, Cleft palate |
OMIM:114300 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Abdominal aortic aneurysm, Arterial tortuosity, Patent ductus arterio... |
OMIM:613795 |
Aspartylglucosaminuria |
|
Mandibular prognathia, Beaking of vertebral bodies, Inguinal hernia, Abnormal morphology of ulna,... |
ORPHA:93 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Cardiac arrest, Leukocytosis, Dilated cardiomyopathy, Leukopenia, Prolonged prothrombin time, Pal... |
ORPHA:20 |
Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Sea-blue histiocytos... |
OMIM:607625 |
Schilbach-Rott Syndrome |
|
Submucous cleft hard palate, Bifid uvula, Narrow mouth |
OMIM:164220 |
Kabuki Syndrome 1 |
|
Prominent fingertip pads, Congenital hip dislocation, Ventricular septal defect, Bilateral tonic-... |
OMIM:147920 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Non-midline cleft li... |
ORPHA:1071 |
Diamond-Blackfan Anemia 11 |
|
Hypoplasia of the ulna, Bicuspid aortic valve, Absent thumb, Unilateral radial aplasia, Hypoplasi... |
OMIM:614900 |
Trichotillomania |
|
Hair-pulling, Compulsive behaviors |
OMIM:613229 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Short stature, Cerebral hemorrhage, Subdural hemorrhage, Arterial rupture, Umbilical hernia, Brui... |
ORPHA:536545 |
Orofacial Cleft 15 |
|
Agenesis of lateral incisor, Bilateral cleft palate, Bilateral cleft lip, Bulbous nose, Palate fi... |
OMIM:616788 |
Developmental And Epileptic Encephalopathy 2 |
|
Anteverted nares, Tapered finger, Inability to walk, Thick lower lip vermilion, Small hand, Short... |
OMIM:300672 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Tetralogy of Fallot, Abnormal heart morphology |
OMIM:614954 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Lumbar hyperlordosis, Ventricular septal defect, Anteverted nares, Choanal atresia, M... |
OMIM:616975 |
Tooth Agenesis, Selective, 3 |
|
Microdontia, Oligodontia of primary teeth, Agenesis of permanent molar, Oligodontia |
OMIM:604625 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Anteverted nares, Underdeveloped nasal alae, Seizure, Clinodactyly of the 5th finger, Short nose |
ORPHA:2031 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Multiple joint contractures, Short neck, Secundum atrial septal defect, Metaphyseal widening, Sub... |
ORPHA:99646 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Congestive heart failure, Intracranial hemorrhage, Hypertension, Mitral regurgitation, Aortic ath... |
ORPHA:363618 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Submucous cleft soft palate, Recurrent respiratory infections, Cleft soft palate |
ORPHA:2282 |
Familial Benign Copper Deficiency |
|
Seizure, Diaphyseal thickening, Wide nasal bridge |
ORPHA:1551 |
Nodular Non-Suppurative Panniculitis |
|
Hepatomegaly, Splenomegaly, Weight loss |
ORPHA:33577 |
Isotretinoin-Like Syndrome |
|
Postnatal growth retardation, Intrauterine growth retardation, Patent ductus arteriosus, Lymphopenia |
ORPHA:2306 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Joint hypermobility, Thin ribs |
ORPHA:456328 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Ventricular septal defect, Flexion contracture, Wide nasal bridge, Depressed nasal tip, Seizure |
OMIM:619306 |
Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Pancytopenia, Thrombocytopenia, Splenomegaly, Vacuolated lymphocyt... |
ORPHA:167 |
Juvenile Polyposis Of Infancy |
|
Depressed nasal bridge, Cachexia, Abnormal heart morphology, Midclavicular hypoplasia, Clubbing o... |
ORPHA:79076 |
Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Micrognathia, Adactyly, Split hand, Wide nasal bridge, Aplasia/... |
ORPHA:989 |
Adams-Oliver Syndrome 5 |
|
Hypersplenism, Splenomegaly, Portal vein thrombosis, Cavernous hemangioma, Right ventricular hype... |
OMIM:616028 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
Waardenburg-Shah Syndrome |
|
Prominent nasal bridge, Wide nasal bridge, Underdeveloped nasal alae, Abnormality of the nose |
ORPHA:897 |
Tay-Sachs Disease |
|
Cherry red spot of the macula, Pallor |
OMIM:272800 |
Primary Sclerosing Cholangitis |
|
Hepatomegaly, Cholangiocarcinoma, Abnormal eosinophil morphology, Portal hypertension, Hepatocell... |
ORPHA:171 |
Infantile Myofibromatosis |
|
Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Gingival fibromatosis, N... |
ORPHA:2591 |
Cat Eye Syndrome |
|
Ventricular septal defect, Micrognathia, Absent radius, Hypoplastic left heart, Total anomalous p... |
OMIM:115470 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Wide nose, Ventricular septal defect, Craniosynostosis, Underdeveloped nasal alae, Short neck, Pu... |
OMIM:617506 |
Renal Tubular Dysgenesis |
|
Pulmonary hypoplasia |
OMIM:267430 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Pentalogy Of Cantrell |
|
Omphalocele, Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphragmatic... |
ORPHA:1335 |
Isolated Right Ventricular Hypoplasia |
|
Cyanosis, Cardiomegaly, Muscular ventricular septal defect, Clubbing, Hypoxemia, Atrial septal de... |
ORPHA:439 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Short attention span, Short humerus, Short femur, Hypoglycemia, Unsteady gait, Flexion contractur... |
ORPHA:17 |
Diamond-Blackfan Anemia 8 |
|
Short nose, Wide nasal bridge |
OMIM:612563 |
Goldberg-Shprintzen Megacolon Syndrome |
|
Finger syndactyly, Seizure, Wide nasal bridge |
ORPHA:66629 |
Irida Syndrome |
|
Pallor |
ORPHA:209981 |
Split Lower Lip |
|
Narrow maxilla |
OMIM:183400 |
Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Generalized lymphadenopathy, Splenomegaly, Cervical lymphadenopathy, Weight loss, A... |
ORPHA:50918 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Osteopenia, Joint laxity, Short attention span, Scapular winging, Micrognathia, Hyperlordosis, De... |
ORPHA:73223 |
Myopathy, Mitochondrial, And Ataxia |
|
Growth delay, Short stature, Pallor |
OMIM:617675 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... |
ORPHA:90068 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Interstitial emphysema, Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula... |
OMIM:619708 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Abnormal repetitive mannerisms, Abnormal fingertip morphology |
ORPHA:529965 |
Q Fever |
|
Hepatomegaly, Splenomegaly, Hepatitis, Hepatosplenomegaly, Anemia, Weight loss, Abnormality of th... |
ORPHA:781 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatic fibrosis, Short stature, Splenomegaly, Delayed puberty, Neutropenia, Hep... |
OMIM:232220 |
Lethal Congenital Contracture Syndrome 5 |
|
Subdural hemorrhage, Retinal hemorrhage |
OMIM:615368 |
Frontofacionasal Dysplasia |
|
Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Depressed nasal ridge, Dimple on nasal ... |
ORPHA:1791 |
Autosomal Recessive Malignant Osteopetrosis |
|
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormal rib morphology, Reduced... |
ORPHA:667 |
Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Ulnar deviation of the hand, Elbow contracture, Camptodactyly of finger, Rocker ... |
OMIM:208150 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Periodontitis, C... |
ORPHA:534 |
Warburg Micro Syndrome 2 |
|
Overlapping toe, Prominent nasal bridge, Flexion contracture, Short nose, Clinodactyly of the 4th... |
OMIM:614225 |
Alagille Syndrome 1 |
|
Hypoplasia of the ulna, Hypertriglyceridemia, Ventricular septal defect, Depressed nasal bridge, ... |
OMIM:118450 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Inguinal hernia, Overlapping toe, Tapered finger, Obesity, 2-3 toe syndactyly, Difficulty walking... |
OMIM:618653 |
Cone-Rod Dystrophy 8 |
|
Retinal arteriolar constriction, Pallor |
OMIM:605549 |
Neurocardiofaciodigital Syndrome |
|
Syndactyly, Small for gestational age, Retrognathia, Tetralogy of Fallot, Double inlet left ventr... |
OMIM:619869 |
Ring Chromosome 12 Syndrome |
|
Syndactyly, Lumbar hyperlordosis, Small for gestational age, Secundum atrial septal defect, Abnor... |
ORPHA:1439 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Long upper... |
OMIM:608670 |
Cap Myopathy |
|
Lumbar hyperlordosis, Thoracic scoliosis, Tip-toe gait, Mitral valve prolapse |
ORPHA:171881 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Hypoplasia of the maxilla, Wide nasal bridge, Decreased response to growth hormone stimulation test |
OMIM:180500 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Abnormal repetitive mannerisms, Hip dislocation, Dysphagia |
ORPHA:572013 |
Right Atrial Isomerism |
|
Right atrial isomerism, Inguinal hernia, Ventricular septal defect, Dextrocardia, Situs inversus ... |
OMIM:208530 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Depressed nasal bridge, Single transverse palmar crease, Bilateral tonic-clonic seizure, Broad na... |
ORPHA:466943 |
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Joint laxity, Atypical scarring of skin, Mitral valve prolapse |
OMIM:225310 |
Superficial Siderosis |
|
Abnormal bleeding, Subarachnoid hemorrhage, Atrophy of the spinal cord, Abnormal spinal cord morp... |
ORPHA:247245 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Short stature, Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Neutropenia, Lymp... |
OMIM:607944 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Abnormal bleeding, Anemic pallor, Growth delay, Hematochezia, Anemia |
ORPHA:329971 |
Viss Syndrome |
|
Micrognathia, Generalized joint laxity, Right ventricular dilatation, Increased circulating IgG l... |
OMIM:619472 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Myelofibrosis, Joint laxity, Inguinal hernia, Ventricular septal defect, Large for gestational ag... |
OMIM:607721 |
Charge Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormal palmar dermatoglyphics, Micrognat... |
OMIM:214800 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Wide nasal bridge, Micrognathia |
ORPHA:2575 |
Kosaki Overgrowth Syndrome |
|
Depressed nasal bridge, Thoracolumbar scoliosis, Progressive neurologic deterioration, Wide nasal... |
OMIM:616592 |
Neu-Laxova Syndrome 2 |
|
Intrauterine growth retardation, Spina bifida |
OMIM:616038 |
Cerebrooculonasal Syndrome |
|
Anteverted nares, Prominent nasal bridge, Proboscis, Craniosynostosis, Postaxial polydactyly, Pos... |
OMIM:605627 |
Matthew-Wood Syndrome |
|
Abnormal lung morphology, Pulmonary hypoplasia, Duodenal stenosis |
ORPHA:2470 |
Senior-Loken Syndrome 8 |
|
Pallor, Vascular dilatation |
OMIM:616307 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Limb joint contracture, Myoclonic seizure, Atrial septal defect, Intrauterine growth retardation,... |
OMIM:620327 |
Ferguson-Bonni Neurodevelopmental Syndrome |
|
Congenital diaphragmatic hernia, Patent foramen ovale, Coronary-pulmonary artery fistula, Microgn... |
OMIM:619699 |
Cardiac Valvular Dysplasia 1 |
|
Inguinal hernia, Cyanosis, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis... |
OMIM:212093 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Failure to thrive in infancy, Cachexia, Autoimmune thrombocytopenia,... |
ORPHA:37042 |
Renal Cysts And Diabetes Syndrome |
|
Elevated hepatic transaminase, Diabetes mellitus, Impaired glucose tolerance, Maturity-onset diab... |
OMIM:137920 |
Craniofacial Microsomia 1 |
|
Block vertebrae, Ventricular septal defect, Micrognathia, Hypoplasia of the maxilla, Partial dupl... |
OMIM:164210 |
Cree Mental Retardation Syndrome |
|
Cleft soft palate |
OMIM:606851 |
Adenohypophysitis |
|
Normochromic anemia, Pallor |
ORPHA:95512 |
Non-Functioning Pituitary Adenoma |
|
Pallor, Anemia of inadequate production |
ORPHA:91349 |
Hellp Syndrome |
|
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Cerebral hemorrhage, Prolo... |
ORPHA:244242 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Short attention span, Depressed nasal bridge, High, narrow palate, Head-banging, Self-injurious b... |
OMIM:619575 |
Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Seizure, Lipoma, Subvalvular aortic stenosis, Atrial septal defect, Mu... |
OMIM:613001 |
Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:306400 |
Gaisböck Syndrome |
|
Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Obesity, Increased... |
ORPHA:90041 |
Pseudoxanthoma Elasticum |
|
Abnormal endocardium morphology, Mitral valve prolapse, Joint hyperflexibility, Multiple lipomas,... |
ORPHA:758 |
Neu-Laxova Syndrome |
|
Abnormality of the philtrum, Submucous cleft hard palate, Cleft palate, Thick vermilion border, P... |
ORPHA:2671 |
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Fetal intraventricular hemorrhage, Short stature |
OMIM:618480 |
Meacham Syndrome |
|
Death in infancy, Partial anomalous pulmonary venous return, Cardiac total anomalous pulmonary ve... |
OMIM:608978 |
Mitral Valve Prolapse 3 |
|
Mitral valve prolapse |
OMIM:610840 |
Mitral Valve Prolapse 2 |
|
Mitral valve prolapse |
OMIM:607829 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Anteverted nares, Prominent nasal bridge, Down-sloping shoulders, Micrognathia... |
ORPHA:1974 |
Paternal Uniparental Disomy Of Chromosome 5 |
|
Kyphoscoliosis, Secundum atrial septal defect, Rhizomelic arm shortening, Abnormal fibular epiphy... |
ORPHA:96190 |
Niemann-Pick Disease Type C |
|
Ataxia, Progressive neurologic deterioration, Aggressive behavior, Chorea, Mental deterioration, ... |
ORPHA:646 |
Adams-Oliver Syndrome 6 |
|
Syndactyly, Ventricular septal defect, Foot oligodactyly, Truncus arteriosus, Brachydactyly |
OMIM:616589 |
Tetrasomy 9P |
|
Micrognathia, Short neck, Clinodactyly of the 5th finger, Patent foramen ovale, Bilateral single ... |
ORPHA:3310 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Unilateral cleft palate, Submucous cleft hard palate, Unilateral cleft lip |
OMIM:619122 |
Klippel-Trénaunay Syndrome |
|
Atrial septal defect, Abnormal tricuspid valve morphology, Upper limb asymmetry, Cellulitis |
ORPHA:90308 |
Pagod Syndrome |
|
Encephalocele, Short stature, Spina bifida, Sudden cardiac death, Abnormality of the spleen, Meni... |
ORPHA:991 |
Optic Atrophy 8 |
|
Mitral valve prolapse |
OMIM:616648 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Pulmonary embolism, Intracranial hemorrhage, Hypertension, Cerebral ... |
ORPHA:394 |
Ectodermal Dysplasia 13, Hair/Tooth Type |
|
Depressed nasal bridge, Wide nasal bridge |
OMIM:617392 |
Fanconi Anemia, Complementation Group L |
|
Hypoplastic sacrum, Absent thumb, Micrognathia, Absent radius, Short neck, Wide nasal bridge, Dep... |
OMIM:614083 |
Formiminoglutamic Aciduria |
|
Atrial septal defect |
ORPHA:51208 |
Tyshchenko Syndrome |
|
Atrial septal defect, Intrauterine growth retardation, Ventricular septal defect, Pulmonic stenosis |
OMIM:615102 |
Cardiac-Urogenital Syndrome |
|
Atrial septal defect, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary s... |
OMIM:618280 |
Alagille Syndrome 2 |
|
Atrial septal defect, Tetralogy of Fallot, Long nose, Pulmonic stenosis |
OMIM:610205 |
Panhypophysitis |
|
Normochromic anemia, Pallor |
ORPHA:95513 |
Fanconi Anemia, Complementation Group F |
|
Sacral dimple, Decreased response to growth hormone stimulation test, Absent thumb, Short thumb, ... |
OMIM:603467 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Elevated hepatic transaminase, Hypoglycemia, Cholangitis, Microvesicular hepatic steatosis, Chole... |
OMIM:124000 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Arachnodactyly, Mitral valve prolapse |
OMIM:616166 |
Noonan Syndrome 10 |
|
Mitral stenosis, Ventricular septal defect, Short neck, Mitral valve prolapse, Pulmonic stenosis,... |
OMIM:616564 |
Fraser Syndrome 1 |
|
Aplasia/Hypoplasia of the thumb, Wide nose, Cleft ala nasi, Depressed nasal bridge, Underdevelope... |
OMIM:219000 |
Gaucher Disease, Type Iiic |
|
Splenomegaly, Pancytopenia, Cardiomegaly, Hepatomegaly |
OMIM:231005 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Bicuspid aortic valve, Flexion contracture, Calcaneovalgus deformity, Long... |
ORPHA:261537 |
Transaldolase Deficiency |
|
Atrial septal defect, Biventricular hypertrophy |
ORPHA:101028 |
Brucellosis |
|
Hepatomegaly, Liver abscess, Lung abscess, Small for gestational age, Hypersplenism, Thrombocytop... |
ORPHA:1304 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Toe syndactyly, Mitral atresia, Bulbous nose, Hypoplasia of the radius, Wide nasal bridge, Seizur... |
ORPHA:140952 |
Acrofrontofacionasal Dysostosis 1 |
|
Mandibular prognathia, Short metacarpal, Wide nasal bridge, Seizure, Malar flattening, Acetabular... |
OMIM:201180 |
Isolated Biliary Atresia |
|
Hepatomegaly, Small for gestational age, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis... |
ORPHA:30391 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Atrial septal defect, Intrauterine growth retardation, Abnormal palmar dermatoglyphics, Hypoplasi... |
ORPHA:2728 |
Pilarowski-Bjornsson Syndrome |
|
Prominent fingertip pads, Abnormal repetitive mannerisms |
OMIM:617682 |
Peroxisome Biogenesis Disorder 2B |
|
Seizure, Anteverted nares, Adrenal insufficiency, Wide nasal bridge |
OMIM:202370 |
Scimitar Syndrome |
|
Ventricular septal defect, Dextrocardia, Mitral atresia, Partial anomalous pulmonary venous retur... |
ORPHA:185 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Small for gestational age, Dextrocardia, Talipes equinovarus, Atrial septal defect, Lethargy, Fai... |
OMIM:277380 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Secundum atrial septal defect, Seizure, Pulmo... |
OMIM:614300 |
Pituitary Apoplexy |
|
Normochromic anemia, Pallor |
ORPHA:95613 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Ataxia, Dilated cardiomyopathy, Seizure, Left ventricular noncompaction, Myoclonus, Neonatal deat... |
OMIM:619167 |
Martin-Probst Syndrome |
|
Micrognathia, Dental malocclusion, Wide nasal bridge, Umbilical hernia, Malar flattening, Hypothy... |
OMIM:300519 |
Pearson Syndrome |
|
Reticulocytosis, Pancytopenia, Hepatomegaly, Small for gestational age, Pancreatic fibrosis, Post... |
ORPHA:699 |
Congenital Tricuspid Valve Dysplasia |
|
Cyanosis, Small for gestational age, Cardiomegaly, Pericardial effusion, Anomalous pulmonary veno... |
ORPHA:555874 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... |
OMIM:208540 |
Sheehan Syndrome |
|
Orthostatic hypotension, Normochromic anemia, Palpitations, Bradycardia, Pallor, Dry skin |
ORPHA:91355 |
Sotos Syndrome |
|
No permanent dentition, Flexion contracture, Atrial septal defect, Hypothyroidism, Abnormal verte... |
ORPHA:821 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Generalized-onset seizure, Bicuspid aortic valve, Ventricular septal defect, Partial atrioventric... |
OMIM:620066 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia, Pallor |
ORPHA:348 |
Frontofacionasal Dysplasia |
|
Frontal cutaneous lipoma, Underdeveloped nasal alae, Midline defect of the nose, Bifid nose, Mala... |
OMIM:229400 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Quadricuspid aortic valve, Hiatus hernia, Increased connective tissue, Mitral valve prolapse, Atr... |
OMIM:606408 |
Branchio-Oculo-Facial Syndrome |
|
Broad nasal tip, Preaxial hand polydactyly, Wide nasal bridge, Atypical scarring of skin, Intraut... |
ORPHA:1297 |
Geleophysic Dysplasia 3 |
|
Epiphyseal dysplasia, Depressed nasal bridge, Anteverted nares, Limited elbow movement, Limited w... |
OMIM:617809 |
Waardenburg Syndrome, Type 2A |
|
Wide nasal bridge, Underdeveloped nasal alae |
OMIM:193510 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Inguinal hernia, Ventricular septal defect, Large for gestational age, Abnormal thumb morphology,... |
ORPHA:500095 |
Mowat-Wilson Syndrome |
|
Mandibular prognathia, Bicuspid aortic valve, Flexion contracture, Calcaneovalgus deformity, Broa... |
ORPHA:2152 |
Barber-Say Syndrome |
|
Delayed eruption of teeth, Anteverted nares, Bulbous nose, Wide nasal bridge, Failure to thrive |
ORPHA:1231 |
Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of righ... |
OMIM:616749 |
Classical Ehlers-Danlos Syndrome |
|
Osteopenia, Abnormality of the temporomandibular joint, Incisional hernia, Osteoarthritis, Genera... |
ORPHA:287 |
Ventricular Septal Defect 3 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614432 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Short philtrum, Cleft soft palate, Smooth philtrum |
ORPHA:293725 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Growth delay, Delayed puberty, Thrombocytopenia |
ORPHA:77261 |
Spinal Arteriovenous Metameric Syndrome |
|
Congestive heart failure, Abnormal spinal cord morphology, Spinal arteriovenous malformation, Art... |
ORPHA:53721 |
Congenital Disorder Of Glycosylation, Type Im |
|
Increased circulating free fatty acid level, Dilated cardiomyopathy, Seizure, Failure to thrive, ... |
OMIM:610768 |
Incontinentia Pigmenti |
|
Short stature, Eosinophilia, Leukocytosis, Erythema, Retinal hemorrhage, Pallor |
OMIM:308300 |
Cardiomyopathy, Dilated, 2H |
|
Neonatal death, Secundum atrial septal defect, Muscular ventricular septal defect |
OMIM:620203 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Intracranial hemorrhage, Hydrocephalus |
ORPHA:91350 |
Stromme Syndrome |
|
Prominent nasal bridge, Micrognathia, Preaxial polydactyly, Wide nasal bridge, Short columella, S... |
OMIM:243605 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Bicuspid aortic valve, Flexion contracture, Calcaneovalgus deformity, Long... |
ORPHA:261552 |
Trichothiodystrophy 2, Photosensitive |
|
Agenesis of maxillary lateral incisor |
OMIM:616390 |
Tyrosinemia, Type I |
|
Hepatomegaly, Failure to thrive, Splenomegaly, Growth delay, Pancreatic islet-cell hyperplasia, C... |
OMIM:276700 |
Caudal Regression Syndrome |
|
Anal atresia, Pulmonary hypoplasia, Orofacial cleft |
ORPHA:3027 |
Familial Mediterranean Fever |
|
Hepatomegaly, Neutrophilia, Splenomegaly, Leukocytosis, Peritonitis |
OMIM:249100 |
Lymphatic Malformation 6 |
|
Micrognathia, Scoliosis, Cellulitis, Atrial septal defect, Hypothyroidism |
OMIM:616843 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Atrial Septal Defect 6 |
|
Atrial septal defect |
OMIM:613087 |
Cardiac Diverticulum |
|
Omphalocele, Bicuspid aortic valve, Mitral stenosis, Left ventricular hypertrophy, Ventricular se... |
ORPHA:1686 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Depressed nasal bridge, Micrognathia, Carious teeth, Tapered finger, Long fingers, Short neck, Wi... |
OMIM:616734 |
Holoprosencephaly 13, X-Linked |
|
Ventricular septal defect, Micrognathia, Vertebral clefting, Seizure, Hypoplastic left heart, Apl... |
OMIM:301043 |
Peroxisome Biogenesis Disorder 4B |
|
Ataxia, Single transverse palmar crease, Seizure, Gait disturbance, Adrenal insufficiency, Short ... |
OMIM:614863 |
Renal Hypodysplasia/Aplasia 1 |
|
Pulmonary hypoplasia |
OMIM:191830 |
X-Linked Intellectual Disability, Nascimento Type |
|
Ventricular septal defect, Depressed nasal bridge, Overlapping toe, Underdeveloped nasal alae, Do... |
ORPHA:163956 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Intracranial hemorrhage, Hypertension, Short stature |
ORPHA:90795 |
Townes-Brocks Syndrome 1 |
|
Short metatarsal, Triphalangeal thumb, Atrial septal defect, Hypothyroidism, 2-4 finger syndactyl... |
OMIM:107480 |
Monosomy 13Q14 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Prominent nasal bridge, Micrognathia, Short n... |
ORPHA:1587 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Arrhythmia, Dilated cardiomyopathy, Antenatal intracerebral hemorrhage |
OMIM:608836 |
Mucopolysaccharidosis Type 3 |
|
Craniofacial hyperostosis, Abnormal clavicle morphology, Joint stiffness, Avascular necrosis of t... |
ORPHA:581 |
Frontonasal Dysplasia 3 |
|
Wide nasal bridge, Underdeveloped nasal alae |
OMIM:613456 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Cleft soft palate |
ORPHA:93316 |
Nephronophthisis 2 |
|
Pulmonary hypoplasia |
OMIM:602088 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Secundum atrial septal defect, Decreased circulating total IgM, Abnormal thymus morphology, Decre... |
OMIM:611926 |
Phakomatosis Pigmentokeratotica |
|
Raynaud phenomenon, Arrhythmia, Spina bifida |
ORPHA:2874 |
Osteopetrosis, Autosomal Recessive 7 |
|
Growth delay, Splenomegaly, Anemia, Hepatomegaly |
OMIM:612301 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Anteverted nares, Depressed nasal bridge, Kyphoscoliosis, Micrognathia, Tapered finger, Triangula... |
OMIM:309580 |
Mckusick-Kaufman Syndrome |
|
Finger syndactyly, Ventricular septal defect, Tarsal synostosis, Postaxial hand polydactyly, Tetr... |
ORPHA:2473 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Omphalocele, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Parachute mi... |
OMIM:265380 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Mandibular prognathia, Epileptic spasm, Wide nasal bridge, Seizure, Atrial septal defect, Intraut... |
OMIM:300896 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Cleft hard palate, Submucou... |
OMIM:300990 |
Osteogenesis Imperfecta, Type Xvii |
|
Intraventricular hemorrhage, Syringomyelia, Short stature |
OMIM:616507 |
Incisors, Lower Central, Absence Of |
|
Agenesis of mandibular central incisor |
OMIM:147330 |
Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
Acromelic Frontonasal Dysplasia |
|
Encephalocele, Meningocele |
ORPHA:1827 |
Renal And Mullerian Duct Hypoplasia |
|
Short nose, Micrognathia |
OMIM:266810 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Miscarriage, Respiratory infections in early life, Pulmonary hypoplasia |
ORPHA:96179 |
Keratoderma Hereditarium Mutilans |
|
Abnormal spinal cord morphology |
ORPHA:494 |
Hydroxykynureninuria |
|
Stomatitis, Abnormal repetitive mannerisms |
ORPHA:79155 |
Native American Myopathy |
|
Cleft palate, Downturned corners of mouth, High palate, Submucous cleft soft palate, Bifid uvula |
ORPHA:168572 |
Atelosteogenesis Type I |
|
Malrotation of colon, Pulmonary hypoplasia, Cleft palate |
ORPHA:1190 |
Multiple Myeloma |
|
Splenomegaly, Lymphadenopathy, Anemia, Weight loss |
ORPHA:29073 |
Deafness, X-Linked 7 |
|
Wide nasal bridge |
OMIM:301018 |
Liposarcoma |
|
Weight loss, Sarcoma |
ORPHA:69078 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Ataxia, Prominent nasal bridge, Underdeveloped nasal alae, Wide nasal bridge, Seizure, Hypogonadi... |
ORPHA:163746 |
Cockayne Syndrome Type 3 |
|
Mild postnatal growth retardation, Splenomegaly, Subdural hemorrhage, Retinal hemorrhage, Cardiom... |
ORPHA:90324 |
Pheochromocytoma |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Renal artery s... |
OMIM:171300 |
Focal Dermal Hypoplasia |
|
Telangiectasia of the skin, Spina bifida, Patent ductus arteriosus, Erythema, Umbilical hernia |
ORPHA:2092 |
Hydranencephaly |
|
Postnatal growth retardation, Abnormal internal carotid artery morphology, Dilatation of the vent... |
ORPHA:2177 |
Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Squamous cell carcinoma, Leukopeni... |
ORPHA:79277 |
Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia, Postaxial polydactyly, Postaxial hand polydactyly, Obesity, 2-3 toe syndact... |
OMIM:619471 |
Sandhoff Disease, Infantile Form |
|
Bilateral tonic-clonic seizure, Myoclonic seizure, Mitral valve prolapse, Seizure, Myoclonus |
ORPHA:309155 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Meningocele, Scaling skin, Dry skin, Facial erythema |
ORPHA:1010 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Anterior pituitary hypoplasia, Secundum atrial septal defect, Primum atrial septal de... |
OMIM:619534 |
Meckel Syndrome, Type 7 |
|
Inguinal hernia, Situs inversus totalis, Large fontanelles, Postaxial foot polydactyly, Atrial se... |
OMIM:267010 |
Von Hippel-Lindau Disease |
|
Myocardial infarction, Myocarditis, Abnormal left ventricular function, Cardiomyopathy, Hypertens... |
ORPHA:892 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Toe syndactyly, Ventricular septal defect, Dextrocardia, Bilateral single transverse palmar creas... |
OMIM:619657 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Downturned corners of mouth, Thin upper lip vermilion, Submucous cleft hard palate |
OMIM:619680 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Depressed nasal bridge, Congenital diaphragmatic hernia, Micromelia, Aplastic clavicle, Postaxial... |
OMIM:616546 |
Prolactinoma |
|
Pallor, Hypotension, Delayed puberty |
ORPHA:2965 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Myelopathy, Abnormal spinal cord morphology |
ORPHA:139396 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Short stature, Intraventricular hemorrhage, Erythema, Telangiectasia... |
ORPHA:420741 |
Cystinosis |
|
Polydipsia, Abnormal repetitive mannerisms, Gait disturbance |
ORPHA:213 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Depressed nasal bridge, Bowed humerus, Flexion contracture, Wide n... |
OMIM:619479 |
Split Cord Malformation |
|
Tethered cord, Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydroc... |
ORPHA:573278 |
Camurati-Engelmann Disease |
|
Hepatomegaly, Cachexia, Splenomegaly, Leukopenia, Delayed puberty, Slender build, Anemia |
ORPHA:1328 |
Oligomeganephronia |
|
Small for gestational age, Congenital diaphragmatic hernia, Micrognathia, Secundum atrial septal ... |
ORPHA:2260 |
Acrocephalopolydactylous Dysplasia |
|
Omphalocele, Craniosynostosis, Micromelia, Short neck, Postaxial hand polydactyly, Short nose |
OMIM:200995 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Splenomegaly, Shor... |
OMIM:232300 |
Reynolds Syndrome |
|
Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Lymphopenia |
OMIM:613471 |
Porphyria, Congenital Erythropoietic |
|
Hemolytic anemia, Hepatomegaly, Short stature, Splenomegaly, Jaundice, Cholelithiasis, Thrombocyt... |
OMIM:263700 |
Vacterl With Hydrocephalus |
|
Aqueductal stenosis, Intrauterine growth retardation, Hydrocephalus, Spina bifida |
ORPHA:3412 |
Johanson-Blizzard Syndrome |
|
Joint laxity, Diabetes mellitus, Small for gestational age, Ventricular septal defect, Midline sk... |
OMIM:243800 |
Branchiogenic-Deafness Syndrome |
|
Submucous cleft hard palate |
OMIM:609166 |
Chromosome 13Q14 Deletion Syndrome |
|
Inguinal hernia, Ventricular septal defect, Single transverse palmar crease, Overlapping toe, Mic... |
OMIM:613884 |
Chromosome 17P13.1 Deletion Syndrome |
|
Umbilical hernia, Hydrocephalus, Spina bifida |
OMIM:613776 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... |
OMIM:246570 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Cholangitis, Portal hypertension, Hypersplenism, Splenomegaly, Biliary hyperp... |
ORPHA:731 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
Shprintzen Omphalocele Syndrome |
|
Omphalocele, Lumbar hyperlordosis, Kyphosis, Flared nostrils, Wide nasal bridge, Short columella,... |
OMIM:182210 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Small for gestational age, Portal hypertension, Biliary hyperplasia, Splenomegaly, ... |
ORPHA:567983 |
Nmda Receptor Encephalitis |
|
Short attention span, Confusion, Hypersexuality, Chorea, Depression, Choreoathetosis, Agitation, ... |
ORPHA:217253 |
Alzahrani-Kuwahara Syndrome |
|
Ventricular septal defect, Coronary sinus enlargement, Micrognathia, Prominent nose, Bulbous nose... |
OMIM:619268 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Pancreatic endoc... |
ORPHA:99889 |
Hardikar Syndrome |
|
Cleft soft palate, Intestinal malrotation, Celiac disease, Pulmonary artery stenosis, Partial ano... |
OMIM:301068 |
Yellow Nail Syndrome |
|
Renal neoplasm, Biliary tract neoplasm, Neoplasm of the lung, Neoplasm, Hypoplasia of lymphatic v... |
ORPHA:662 |
Alternating Hemiplegia Of Childhood |
|
Cardiac conduction abnormality, Cardiomyopathy, Pallor, Abnormal T-wave, Arrhythmia |
ORPHA:2131 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
|
Intrauterine growth retardation, Short stature, Subdural hemorrhage |
OMIM:619714 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death, Aplasia of the ulna, Hand oligodactyly, Endocardial fibroelastosis |
OMIM:276822 |
Aortic Valve Disease 3 |
|
Atrial septal defect, Aortic valve stenosis, Bicuspid aortic valve |
OMIM:618496 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Neonatal death, Esophageal varix, Pulmonary hypoplasia |
OMIM:263200 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Absence of the sacrum, Hypoplastic left heart, Aortic valve stenosis, Atrial septal defect, Mitra... |
OMIM:617660 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Atrial septal defect, Seizure, Bulbous nose, Right atrial enlargement |
OMIM:615219 |
Joubert Syndrome 6 |
|
Abnormal repetitive mannerisms, Ataxia |
OMIM:610688 |
Familial Tumoral Calcinosis |
|
Splenomegaly, Neoplasm of the skin, Hepatomegaly |
ORPHA:53715 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hypertrophic cardiomyopathy, Failure to thrive, Patent foramen ovale |
OMIM:614582 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Small for gestational age, Depressed nasal bridge, Ataxia, Gout, Short nose, Convex nasal ridge |
OMIM:300661 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Subdural hemorrhage, Cerebral hemorrhage |
OMIM:620278 |
Congenital Tracheomalacia |
|
Atrial septal defect, Cyanosis, Ventricular septal defect, Cardiomegaly, Partial anomalous pulmon... |
ORPHA:95430 |
Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Splenomegaly, Recurrent pancreatitis, Failure to thrive, Pancreatitis |
OMIM:615947 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Anteverted nares, Narrow nasal tip, Tapered finger, Short thumb, Wide nasal bridge, Clinodactyly ... |
ORPHA:477993 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Protruding tongue, Atelectasis, Macroglossia, Recurrent lower respiratory tract infections, Open ... |
ORPHA:258 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Coronary sinus enlargement, Partial atrioventricular canal defect, Common ... |
ORPHA:1330 |
Walker-Warburg Syndrome |
|
Submucous cleft hard palate, Bifid uvula, Cleft palate |
ORPHA:899 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Redundant neck skin, Short stature, Rhizomelic leg shortening, Meningoce... |
ORPHA:397715 |
Meester-Loeys Syndrome |
|
Arachnodactyly, Mitral valve prolapse, Cervical spine instability, Umbilical hernia, Broad distal... |
OMIM:300989 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Splenomegaly, Vacuolated lymphocytes, Pancreatitis, Hepatomegaly |
ORPHA:565612 |
Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Short stature, Camptodactyly of finger, Abnormal rib morphology, Joint hyperfl... |
ORPHA:2907 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Atrial septal defect, Malar flattening, Concave nasal ridge |
OMIM:602482 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Lipoma, Splenomegaly, Nephroblastoma |
OMIM:612918 |
Tuberous Sclerosis Complex |
|
Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Depression, Self... |
ORPHA:805 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Chronic active hepatitis, Lymphoproliferative disorder, Lymphoma, Biliary cirr... |
ORPHA:289390 |
Lumbar Syndrome |
|
Myelomeningocele, Spina bifida |
ORPHA:83628 |
Congenital Alveolar Capillary Dysplasia |
|
Bicuspid aortic valve, Ventricular septal defect, Pulmonary valve atresia, Aortic valve stenosis,... |
ORPHA:210122 |
Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Atelectasis, Pulmonary artery stenosis, Recurrent pneumonia, Br... |
OMIM:615067 |
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features |
|
Anteverted nares, Tapered finger, Short thumb, Wide nasal bridge, Clinodactyly of the 5th finger,... |
OMIM:616728 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Ataxia, Elevated circulating creatine kinase concentration, Bilateral tonic-clonic seizure, Dilat... |
OMIM:610505 |
Farber Disease |
|
Atelectasis, Recurrent upper respiratory tract infections, Nodular pattern on pulmonary HRCT |
ORPHA:333 |
Ring Chromosome 13 Syndrome |
|
Aplasia/Hypoplasia of the thumb, Depressed nasal bridge, Anteverted nares, Micrognathia, Short ne... |
ORPHA:96176 |
Atrial Septal Defect 8 |
|
Atrial septal defect, Anomalous pulmonary venous return |
OMIM:614433 |
Lymphangioleiomyomatosis |
|
Recurrent respiratory infections, Atelectasis, Pneumothorax, Chylothorax, Emphysema, Pulmonary ly... |
ORPHA:538 |
Large Congenital Melanocytic Nevus |
|
Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Sarcoma |
ORPHA:626 |
Paraneoplastic Pemphigus |
|
B-cell lymphoma, Thymoma, Sarcoma |
ORPHA:63455 |
Treacher Collins Syndrome 1 |
|
Cleft soft palate, Cleft palate, Wide mouth, Abnormal parotid gland morphology, Narrow mouth |
OMIM:154500 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Patent ductus arteriosus, Tethered cord, Spina bifida, Coarctation of aorta |
OMIM:619480 |
Pyruvate Carboxylase Deficiency |
|
Hepatomegaly, Hyperglycemia, Hypoglycemia |
ORPHA:3008 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Prominent nasal bridge, Tapered finger, Pectus excavatum, Short toe, Short foot, Gait disturbance... |
ORPHA:464311 |
Secondary Intestinal Lymphangiectasia |
|
B-cell lymphoma, Chylous ascites, Lymphoma, Cirrhosis, Lymphopenia |
ORPHA:90363 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Hyperactivity, Toe syndactyly, Arachnodactyly, Narrow nasal tip, Prominent nasal b... |
ORPHA:464306 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat... |
OMIM:619371 |
Nelson Syndrome |
|
Intracranial hemorrhage, Hypertension, Striae distensae |
ORPHA:199244 |
Abeta Amyloidosis, Dutch Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:100006 |
Von Willebrand Disease, Type 1 |
|
Aortic valve stenosis, Joint hemorrhage, Epistaxis, Mitral valve prolapse |
OMIM:193400 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Sacral dimple, Tapered toe, Tapered finger, Rib fusion, Clinodactyly of the 5th finger |
ORPHA:544488 |
Toriello-Lacassie-Droste Syndrome |
|
Anteverted nares, Short palm, Short nose, Failure to thrive, Brachydactyly |
ORPHA:3339 |
Atelosteogenesis Type Ii |
|
Thin upper lip vermilion, Bilateral cleft palate, Cleft palate, Pulmonary hypoplasia, Long philtrum |
ORPHA:56304 |
Neurofibromatosis-Noonan Syndrome |
|
Depressed nasal bridge, Short neck, Secundum atrial septal defect, Cubitus valgus, Prominent naso... |
OMIM:601321 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Bilateral tonic-clonic seizure, Seizure, Myoclonic spasms, Neonatal death, Short nose |
OMIM:252160 |
Nail-Patella Syndrome |
|
Short stature, Spina bifida |
OMIM:161200 |
Criss-Cross Heart |
|
Cyanosis, Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pul... |
ORPHA:1461 |
Esophageal Atresia |
|
Growth delay, Tetralogy of Fallot, Pallor, Coarctation of aorta |
ORPHA:1199 |
Dpagt1-Cdg |
|
Intracranial hemorrhage, Prolonged QT interval, Anemia, Stroke-like episode |
ORPHA:86309 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Cyanosis, Ventricular septal defect, Overlapping toe, Partial anomalous pulmonary venous return, ... |
OMIM:617478 |
Waardenburg Syndrome, Type 1 |
|
Myelomeningocele, Spina bifida |
OMIM:193500 |
Charge Syndrome |
|
Short stature, Postnatal growth retardation, Abnormal tibia morphology, Abnormal rib morphology, ... |
ORPHA:138 |
Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Congestive heart failure, Hypertension, Palpitations, Hypotension, D... |
ORPHA:91347 |
Cardiomyopathy, Dilated, 1Oo |
|
Atrial septal defect, Dilated cardiomyopathy |
OMIM:620247 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Duodenal atresia |
OMIM:619227 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Tooth malposit... |
ORPHA:2250 |
Cushing Disease |
|
Pituitary corticotropic cell adenoma, Leukocytosis, Increased body weight, Truncal obesity, Abdom... |
ORPHA:96253 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Pneumothorax, Pulmonary hypoplasia |
OMIM:620306 |
Autosomal Dominant Centronuclear Myopathy |
|
Thin ribs |
ORPHA:169189 |
Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Pancreatitis, Hepatomegaly |
OMIM:207750 |
Meningioma |
|
Hydrocephalus, Syncope, Cerebral hemorrhage |
ORPHA:2495 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,... |
OMIM:613854 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Atelectasis, Recurrent respiratory infections, Pulmonary fibrosis, Death in childhood |
OMIM:618278 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Leukocytosis, Pallor, Thrombocytopenia |
ORPHA:544482 |
Acys Amyloidosis |
|
Stroke, Cerebral hemorrhage |
ORPHA:100008 |
Tetraamelia Syndrome 1 |
|
Cleft upper lip, Peripheral pulmonary vessel aplasia, Cleft palate, Pulmonary hypoplasia, Anal at... |
OMIM:273395 |
Dextrocardia |
|
Congenital hip dislocation, Abnormal rib morphology |
ORPHA:1666 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Elevated hepatic transaminase, Decreased response to growth hormone stimulation test, Central dia... |
ORPHA:293987 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hemolytic anemia, Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortu... |
OMIM:175780 |
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay |
|
Patent foramen ovale, Bilateral tonic-clonic seizure |
OMIM:618832 |
Neurofibromatosis, Type I |
|
Short stature, Spina bifida, Aqueductal stenosis, Hydrocephalus, Hypertension, Renal artery stenosis |
OMIM:162200 |
Holoprosencephaly 4 |
|
Depressed nasal bridge, Absent nasal septal cartilage, Depressed nasal tip |
OMIM:142946 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... |
OMIM:119100 |
Deafness-Craniofacial Syndrome |
|
Wide nasal bridge, Underdeveloped nasal alae |
ORPHA:3241 |
Piebaldism |
|
Ataxia, Wide nasal bridge |
ORPHA:2884 |
Cloacal Exstrophy |
|
Myelomeningocele, Spina bifida |
ORPHA:93929 |
Cutis Laxa, Autosomal Dominant 1 |
|
Emphysema, Bronchiectasis, Peripheral pulmonary artery stenosis, Long philtrum |
OMIM:123700 |
Penile Agenesis |
|
Depressed nasal bridge, Ventricular septal defect, Maternal diabetes, Bilateral talipes equinovar... |
ORPHA:49 |
Acute Liver Failure |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Intracranial hemorrhage, Prolonged prothro... |
ORPHA:90062 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Long toe, Bicuspid aortic valve, Depressed nasal bridge, Small for gestational age, Secundum atri... |
OMIM:613355 |
Peroxisome Biogenesis Disorder 1B |
|
Epiphyseal stippling, Convex nasal ridge, Seizure, Wide nasal bridge |
OMIM:601539 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Pulmonary hypoplasia |
ORPHA:86822 |
Humeroradial Synostosis |
|
Humeroradial synostosis, Wide nasal bridge |
OMIM:236400 |
Thyrotoxic Periodic Paralysis |
|
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi... |
ORPHA:79102 |
Renal Agenesis |
|
Pulmonary hypoplasia, Anal atresia |
ORPHA:411709 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly |
OMIM:238600 |
Fraser Syndrome |
|
Omphalocele, Finger syndactyly, Cleft ala nasi, Depressed nasal bridge, Toe syndactyly, Underdeve... |
ORPHA:2052 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Pulmonic stenosis |
OMIM:178650 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Subaortic ventri... |
OMIM:612098 |
Atrial Septal Defect 9 |
|
Secundum atrial septal defect, Bicuspid aortic valve |
OMIM:614475 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Ventricular septal defect, Seizure, Hypoplastic left heart, Difficulty walking, Attention deficit... |
OMIM:618748 |
Familial Cutaneous Collagenoma |
|
Atrial septal defect, Cardiomyopathy |
ORPHA:53296 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... |
OMIM:108900 |
Thauvin-Robinet-Faivre Syndrome |
|
Inguinal hernia, Ventricular septal defect, Bowing of the legs, Large for gestational age, Mitral... |
OMIM:617107 |
Meacham Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Anomalous pul... |
ORPHA:3097 |
Adult Syndrome |
|
Finger syndactyly, Toe syndactyly, Prominent nasal bridge, Wide nasal bridge, Split foot |
ORPHA:978 |
Truncus Arteriosus |
|
Cyanosis, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal hear... |
ORPHA:3384 |
Townes-Brocks Syndrome |
|
Broad hallux phalanx, Toe clinodactyly, Toe syndactyly, Abnormal vertebral morphology, Abnormal p... |
ORPHA:857 |
Solitary Bone Cyst |
|
Abnormal spinal cord morphology |
ORPHA:83468 |
Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Thyroid agenesis, Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration,... |
OMIM:225250 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Flexion contracture, Genu valgum, Abdominal obesity, Hypoplasia of the ovary, Intrauterine growth... |
OMIM:619321 |
Curry-Jones Syndrome |
|
Occipital meningocele, Lipomyelomeningocele |
OMIM:601707 |
Adams-Oliver Syndrome 1 |
|
Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Seizure, Hypoplastic left heart... |
OMIM:100300 |
Waardenburg Syndrome |
|
Prominent nasal bridge, Wide nasal bridge, Underdeveloped nasal alae |
ORPHA:3440 |
Lymphangiectasia, Pulmonary, Congenital |
|
Malar flattening, Depressed nasal bridge, Wide nasal bridge |
OMIM:265300 |
Scorpion Envenomation |
|
Glycosuria, Acute pancreatitis, Elevated circulating aspartate aminotransferase concentration, Hy... |
ORPHA:466677 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Hypoplastic left heart, Tran... |
OMIM:614779 |
Achondroplasia |
|
Death in infancy, Pulmonary hypoplasia |
OMIM:100800 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Single transverse palmar crease, Congenital diaphrag... |
OMIM:309801 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Increased circulating gonadotropin level, Depressed nasal bridge, Wide nasal bridge |
OMIM:110100 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Wide nasal bridge, Abnormal heart morpholog... |
OMIM:235730 |
Coccidioidomycosis |
|
Osteomyelitis, Osteolysis, Abnormal long bone morphology, Arthritis, Abnormality of the vertebral... |
ORPHA:228123 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Tachycardia, Tricuspid regurgitation, Right ventricular failure, Pulmonary artery stenosis, Paten... |
ORPHA:99125 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
Congenital Pulmonary Valvar Stenosis |
|
Atrial septal defect |
ORPHA:3189 |
Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Ebstein anomaly of the tricuspid valve, Abnormal cardiac septum ... |
ORPHA:1880 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Stillbirth, Pulmonary hypoplasia, Cleft upper lip |
OMIM:308050 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Cleft soft palate |
OMIM:614557 |
Orotic Aciduria |
|
Atrial septal defect, Failure to thrive, Ventricular septal defect |
OMIM:258900 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Talipes equinovarus, Mitral stenosis, Decreased response to growth hormone stimulation test, Low ... |
OMIM:617260 |
Familial Cerebral Cavernous Malformation |
|
Venous malformation, Spinal cord lesion, Cerebral hemorrhage |
ORPHA:221061 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Seizure, Short nose, Myoclonic spasms |
OMIM:252150 |
Multiple Endocrine Neoplasia Type 2 |
|
Pallor, Palpitations, Hypertensive crisis, Hypertension associated with pheochromocytoma |
ORPHA:653 |
Lujo Hemorrhagic Fever |
|
Atelectasis |
ORPHA:319213 |
Zygomycosis |
|
Gastritis, Atelectasis, Pneumothorax, Enterocolitis, Acute infectious pneumonia, Colitis, Ileitis... |
ORPHA:73263 |
Orofaciodigital Syndrome Vi |
|
Occipital meningocele, Short stature, Coarctation of aorta |
OMIM:277170 |
Atrial Septal Defect 5 |
|
Secundum atrial septal defect |
OMIM:612794 |
Atrial Septal Defect 3 |
|
Secundum atrial septal defect |
OMIM:614089 |
Eisenmenger Syndrome |
|
Cyanosis, Ventricular septal defect, Elevated circulating C-reactive protein concentration, Clubb... |
ORPHA:97214 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Anteverted nares, Wide nasal bridge, Congenital diaphragmatic hernia, Abnormal heart morphology |
OMIM:617641 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory tract infection, Atelectasis, Macroglossia, Difficulty in tongue movements |
ORPHA:365 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Hydrocephalus, Pallor |
OMIM:253280 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal dental enamel morphology, High, narrow palate, Submucous cleft hard palate, Cleft palate... |
ORPHA:2658 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Aortopulmonary window, Pulmonary hypoplasia, Pulmonary artery a... |
ORPHA:99050 |
Proboscis Lateralis |
|
Aplasia/Hypoplasia of the maxilla, Ventricular septal defect, Choanal atresia, Proboscis, Abnorma... |
ORPHA:141099 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Pulmonary hypoplasia |
OMIM:615503 |
Lymphatic Malformation 13 |
|
Neonatal death, Atrial septal defect, Depressed nasal bridge, Patent foramen ovale |
OMIM:620244 |
Meckel Syndrome 14 |
|
Pneumothorax, Pulmonary hypoplasia |
OMIM:619879 |
Klippel-Trenaunay-Weber Syndrome |
|
Syndactyly, Macrodactyly, Hand oligodactyly, Seizure, Hand polydactyly |
OMIM:149000 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Overlapping toe, Hypoplastic philtrum, Bulbous nose, Unsteady gait, Clinodactyly of the 5th finge... |
OMIM:616682 |
Heterotaxy, Visceral, 5, Autosomal |
|
Absence of the sacrum, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Partial a... |
OMIM:270100 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Omphalocele, Atrial septal defect, Inguinal hernia, Postaxial hand polydactyly, Recurrent upper r... |
OMIM:308205 |
Knobloch Syndrome 1 |
|
Occipital meningocele, Occipital encephalocele, Patent ductus arteriosus, Spina bifida occulta |
OMIM:267750 |
Heterotaxy, Visceral, 12, Autosomal |
|
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atrium, Complete atrioven... |
OMIM:619702 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Dilated cardiomyopathy, Mitral valve prolapse |
OMIM:145350 |
X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Atrial septal defect, Seizure |
ORPHA:93947 |
Sick Sinus Syndrome 2 |
|
Left ventricular hypertrophy, Left ventricular noncompaction, Mitral valve prolapse |
OMIM:163800 |
Kindler Epidermolysis Bullosa |
|
Finger syndactyly, Camptodactyly of finger, Flexion contracture, Abnormal rib morphology, Short 4... |
ORPHA:2908 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Seizure, Patent foramen ovale |
ORPHA:542306 |
Microphthalmia, Syndromic 1 |
|
Syndactyly, Dental crowding, Down-sloping shoulders, Aggressive behavior, Pectus excavatum, High,... |
OMIM:309800 |
Neuroocular Syndrome |
|
Hyperextensibility of the finger joints, Scapular winging, Sacral dimple, Tapered finger, Deep pa... |
OMIM:619539 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Mitral valve prolapse |
OMIM:173900 |
Vexas Syndrome |
|
Arthritis, Nasal chondritis, Elevated circulating C-reactive protein concentration |
OMIM:301054 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
Mckusick-Kaufman Syndrome |
|
Aganglionic megacolon, Pulmonary hypoplasia, Anal atresia, Rectovaginal fistula |
OMIM:236700 |
Absence Of The Pulmonary Artery |
|
Cyanosis, Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Hypocapnia... |
ORPHA:980 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Microcolon, Pulmonary hypoplasia, Ileal atresia |
OMIM:619351 |
Arima Syndrome |
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Growth delay, Occipital meningocele, Hypertension, Anemia |
OMIM:243910 |
Diamond-Blackfan Anemia 4 |
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Atrial septal defect |
OMIM:612527 |
Marden-Walker Syndrome |
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Pyloric stenosis, Submucous cleft hard palate, Cleft palate, Narrow mouth, Bifid uvula |
ORPHA:2461 |
Ehlers-Danlos Syndrome, Vascular Type |
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Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... |
OMIM:130050 |
Pseudoxanthoma Elasticum |
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Restrictive cardiomyopathy, Mitral stenosis, Mitral valve prolapse |
OMIM:264800 |
Meckel Syndrome, Type 1 |
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Thin upper lip vermilion, Natal tooth, Intestinal malrotation, Cleft upper lip, Cleft palate, Wid... |
OMIM:249000 |
Diphallia |
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Inguinal hernia, Absent thumb, Hemivertebrae, Abnormal heart morphology, Scoliosis, Atrial septal... |
ORPHA:227 |
Acute Transverse Myelitis |
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Hypertension, Orthostatic hypotension, Subarachnoid hemorrhage |
ORPHA:139417 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
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Abnormal spinal cord morphology |
ORPHA:88628 |
Relapsing Polychondritis |
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Anteriorly placed anus, Atelectasis, Recurrent aphthous stomatitis |
ORPHA:728 |
Digeorge Syndrome |
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Atelectasis, High, narrow palate, Recurrent pneumonia, Cleft palate, High palate, Short philtrum,... |
OMIM:188400 |
Acute Disseminated Encephalomyelitis |
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Abnormal spinal cord morphology, Myelitis |
ORPHA:83597 |
Osteopetrosis With Renal Tubular Acidosis |
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Short stature, Recurrent fractures, Pectus excavatum, Osteopetrosis, Prominent floating ribs |
ORPHA:2785 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
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Pulmonary hypoplasia, Persistent cloaca |
ORPHA:1112 |
Adrenomyeloneuropathy |
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Dorsal column degeneration, Atrophy of the spinal cord, Abnormal spinal cord morphology |
ORPHA:139399 |
Ebstein Anomaly |
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Atrial septal defect, Ebstein anomaly of the tricuspid valve |
OMIM:224700 |
Lowe Oculocerebrorenal Syndrome |
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Camptodactyly of finger, Aggressive behavior, Hip dislocation, Genu valgum, Finger swelling, Enam... |
OMIM:309000 |
Vascular Ehlers-Danlos Syndrome |
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Narrow nasal bridge, Inguinal hernia, Congenital hip dislocation, Abnormal heart valve morphology... |
ORPHA:286 |
Pontocerebellar Hypoplasia Type 7 |
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Depressed nasal bridge, Micrognathia, Wide nasal bridge, Seizure, Myoclonus |
ORPHA:284339 |
Congenital Fibrosis Of Extraocular Muscles |
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Hypogonadotropic hypogonadism, Hand oligodactyly |
ORPHA:45358 |
Norrie Disease |
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Narrow nasal bridge, Self-injurious behavior, Irritability, Thin vermilion border, Attention defi... |
ORPHA:649 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
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Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Dec... |
ORPHA:572333 |
Tukel Syndrome |
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Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly |
OMIM:609428 |
Lymphatic Malformation 7 |
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Pericardial effusion, Atrial septal defect |
OMIM:617300 |
Lethal Congenital Contracture Syndrome 9 |
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Thin upper lip vermilion, Pulmonary hypoplasia |
OMIM:616503 |
Amoebiasis Due To Free-Living Amoebae |
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Abnormal spinal cord morphology, Skin ulcer, Increased red blood cell count, Arrhythmia |
ORPHA:68 |
Aortic Valve Disease 2 |
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Patent foramen ovale, Aortic valve stenosis, Bicuspid aortic valve, Pulmonic stenosis |
OMIM:614823 |
Autosomal Dominant Polycystic Kidney Disease |
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Pituitary growth hormone cell adenoma, Mitral valve prolapse |
ORPHA:730 |
Goodpasture Syndrome |
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Pallor, Anemia |
OMIM:233450 |
Wiedemann-Rautenstrauch Syndrome |
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Natal tooth, Thin upper lip vermilion, Abnormality of the dentition, Downturned corners of mouth,... |
ORPHA:3455 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
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Pulmonary artery hypoplasia, Pulmonary hypoplasia, Aortopulmonary window |
OMIM:620025 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
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Submucous cleft hard palate, Thick vermilion border, Bifid uvula, Cleft palate |
ORPHA:2636 |
Joubert Syndrome 21 |
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Pulmonary hypoplasia |
OMIM:615636 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
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Atrial septal defect |
OMIM:613834 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
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Cleft upper lip, Esophageal atresia, Ectopic anus, Pulmonary hypoplasia, Long philtrum, Bifid ton... |
ORPHA:93271 |
Exstrophy-Epispadias Complex |
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Hydrocephalus, Spina bifida |
ORPHA:322 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
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Clubbing, Epistaxis, Mitral valve prolapse |
OMIM:175050 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
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Patent foramen ovale, Ventricular septal defect |
OMIM:610338 |
Aprosencephaly Syndrome |
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Hand oligodactyly |
OMIM:207770 |