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Gene: Crebbp MGI:1098280

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

CREB binding protein

Synonyms:

CBP, KAT3A

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Crebbp mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Crebbp (4 diseases)
Human diseases predicted to be associated with Crebbp (3304 diseases)

The table below shows human diseases associated to Crebbp by orthology or direct annotation.

Disease	Matching phenotypes	Source
Rubinstein-Taybi Syndrome 1	Broad thumb, Delayed cranial suture closure, Hypoplastic iliac wing, Micrognathia, Mitral valve p...	OMIM:180849
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Carious teeth, Natal tooth, Broad thumb, Emotional lability, Social and occupational deterioratio...	ORPHA:353281
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Carious teeth, Natal tooth, Broad thumb, Micrognathia, Emotional lability, Social and occupationa...	ORPHA:353277
Menke-Hennekam Syndrome 1	Overlapping toe, Micrognathia, Short nose, Depressed nasal ridge, Narrow nasal bridge, Inguinal h...	OMIM:618332

The table below shows human diseases predicted to be associated to Crebbp by phenotypic similarity.

Disease	Matching phenotypes	Source
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, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,...	OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 3	Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia	OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 5	Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi...	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
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemia	OMIM:601820
Type 1 Diabetes Mellitus 15	Type I diabetes mellitus, Diabetes mellitus	OMIM:601666
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
Hyperinsulinism Due To Insr Deficiency	Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline...	ORPHA:263458
Diabetes Mellitus, Ketosis-Prone	Insulin resistance, Diabetes mellitus, Beta-cell dysfunction	OMIM:612227
Short Stature Due To Primary Acid-Labile Subunit Deficiency	Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty	ORPHA:140941
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement	Insulin resistance	OMIM:200170
Hyperinsulinemic Hypoglycemia, Familial, 1	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia	OMIM:256450
Acid-Labile Subunit Deficiency	Delayed puberty, Decreased serum insulin-like growth factor 1, Insulin insensitivity	OMIM:615961
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Insulinomatosis And Diabetes Mellitus	Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes mellitus, Hyperinsulinemic h...	OMIM:147630
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Mahvash Disease	Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis, Type II diabetes mellitus, Increased g...	OMIM:619290
Maturity-Onset Diabetes Of The Young, Type 10	Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis	OMIM:613370
Pulmonary Hypoplasia, Primary	Pulmonary hypoplasia, Neonatal death	OMIM:265430
Multiple Symmetric Lipomatosis	Insulin resistance, Hepatomegaly	ORPHA:2398
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Type II diabetes mell...	ORPHA:79299
Insulin Autoimmune Syndrome	Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl...	ORPHA:411593
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thromboc...	OMIM:615285
Rhizomelic Syndrome	Rhizomelia, Bifid distal phalanx of the thumb, Short stature, Hip dislocation, Wide anterior font...	OMIM:268250
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen...	OMIM:133180
Familial Partial Lipodystrophy, Köbberling Type	Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Pancreatitis, Hepato...	ORPHA:79084
Fanconi Anemia, Complementation Group G	Anemia, Neutropenia, Thrombocytopenia, Leukemia, Myelodysplasia, Growth delay	OMIM:614082
Hyperinsulinemic Hypoglycemia, Familial, 6	Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia	OMIM:606762
Ras-Associated Autoimmune Leukoproliferative Disorder	Lymphoma, Pancytopenia, Splenomegaly, Follicular hyperplasia, Hepatomegaly, Lymphocytosis, Neutro...	OMIM:614470
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Leukemia, Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytoh...	OMIM:153600
RCAD (renal cysts and diabetes)	Abnormality of the liver, Diabetes mellitus	DECIPHER:47
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Pectus carinatum, Finger syndactyly, Radioulnar synostosis, Abnormal rib morphology, Short statur...	ORPHA:3268
Gcgr-Related Hyperglucagonemia	Cholelithiasis, Glucagonoma, Abnormal biliary tract morphology, Neoplasm of the pancreas, Increas...	ORPHA:438274
Myeloproliferative Syndrome, Transient	Leukocytosis, Transient myeloproliferative syndrome	OMIM:159595
Rhizomelic Syndrome, Urbach Type	Short distal phalanx of finger, Rhizomelia, Abnormal epiphysis morphology, Limitation of joint mo...	ORPHA:3098
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Myeloproliferative disorder, Malignant eosinophil proliferation	OMIM:131440
Osteogenesis Imperfecta, Type Iii	Thin ribs, Wide anterior fontanel, Neonatal short-limb short stature, Disproportionate short-limb...	OMIM:259420
Hypoglycemia, Leucine-Induced	Hyperinsulinemic hypoglycemia, Hypoglycemia	OMIM:240800
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies	Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism	OMIM:307500
Cortisone Reductase Deficiency 2	Insulin resistance, Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio...	OMIM:614662
Optic Atrophy--Spastic Paraplegia Syndrome	Abnormal oral glucose tolerance	OMIM:311100
Autism, Susceptibility To, 20	Compulsive behaviors, Attention deficit hyperactivity disorder, Reduced social reciprocity	OMIM:618830
Spondylometaphyseal Dysplasia, Type A4	Sclerotic humeral metaphysis, Broad ischia, Irregular capital femoral epiphysis, Flat acetabular ...	OMIM:609052
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Increased hepatic glycogen ...	ORPHA:293964
Sponastrime Dysplasia	Delayed epiphyseal ossification, Shallow acetabular fossae, Osteopathia striata, Genu valgum, Apl...	ORPHA:93357
Brachydactyly, Type B1	Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Delayed cranial suture closure, C...	OMIM:113000
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia, M...	ORPHA:231401
Asperger Syndrome, Susceptibility To, 1	Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a...	OMIM:608638
Asperger Syndrome, Susceptibility To, 2	Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a...	OMIM:608631
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Spondylometaphyseal Dysplasia, Corner Fracture Type	Pectus carinatum, Hypoplasia of the odontoid process, Short femoral neck, Corner fracture of meta...	OMIM:184255
Diabetes Mellitus, Transient Neonatal, 1	Transient neonatal diabetes mellitus, Hyperglycemia	OMIM:601410
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hemophagocytosis, Colon cancer, Hepatosplenomegaly, Pancytopenia, Hodgkin lymphoma, Acute myeloid...	ORPHA:158057
Generalized Eruptive Histiocytosis	Leukemia, Hypereosinophilia, Histiocytosis	ORPHA:157991
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Bone marrow hypocellularity, Lymphoma, Leukopenia, Acute myeloid leukemia, Monocytosis, Myelodysp...	OMIM:616871
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, Impaired ability to form peer relationships, Inflexible adherence to routin...	OMIM:608636
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Platyspondyly, Slender finger, Anisospondyly, Narrow chest, Hemiatrophy of upper limb, Thoracic k...	ORPHA:163649
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt...	OMIM:614172
Osteogenesis Imperfecta, Type Viii	Thin ribs, Radial bowing, Barrel-shaped chest, Decreased skull ossification, Multiple prenatal fr...	OMIM:610915
Emphysema, Hereditary Pulmonary	Emphysema, Chronic bronchitis	OMIM:130700
Metatropic Dysplasia	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Dispropo...	OMIM:156530
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor...	ORPHA:86841
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia	ORPHA:35878
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 9	Leukemia, Leukopenia	OMIM:620400
Autism, Susceptibility To, 8	Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a...	OMIM:607373
Autism	Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a...	OMIM:209850
Spondyloepiphyseal Dysplasia Tarda, Kohn Type	Platyspondyly, Abnormal ilium morphology, Abnormal vertebral morphology, Abnormality of the ankle...	ORPHA:163665
Achondroplasia	Flat acetabular roof, Disproportionate short stature, Thoracic hypoplasia, Cervical spinal canal ...	ORPHA:15
Homozygous 11P15-P14 Deletion Syndrome	Hyperinsulinemia, Hypoglycemia	OMIM:606528
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ...	OMIM:202700
Fibrochondrogenesis 1	Thin ribs, Hypoplastic scapulae, Small hand, Joint contracture of the hand, Broad long bones, Sho...	OMIM:228520
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke...	OMIM:619041
Kyphomelic Dysplasia	Narrow chest, Disproportionate short stature, Limitation of joint mobility, Micromelia, Abnormal ...	ORPHA:1801
Spondylocostal Dysostosis 3, Autosomal Recessive	Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j...	OMIM:609813
Immunodeficiency 24	Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell...	OMIM:615897
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm...	ORPHA:824
Anauxetic Dysplasia 3	Broad middle phalanx of finger, Severe short stature, Metaphyseal cupping, Platyspondyly, Narrow ...	OMIM:618853
Lymphedema, Primary, With Myelodysplasia	Verrucae, Pancytopenia, Decreased CD4:CD8 ratio, Acute myeloid leukemia, Leukemia, Myelodysplasia	OMIM:614038
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Hyperinsulinism Due To Hnf1A Deficiency	Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypoglycemia, Excessive insul...	ORPHA:324575
Neutrophilia, Hereditary	Myelodysplasia, Splenomegaly, Neutrophilia	OMIM:162830
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones	Osteopenia, Hypoplasia of the maxilla, Abnormality of carpal bone ossification, Failure to thrive...	OMIM:608154
ERI1-related disease	Micrognathia, Ventricular septal defect, Decreased body weight, Finger joint hypermobility, Dislo...	OMIM:608739
Spina Bifida-Hypospadias Syndrome	Spinal dysraphism, Spina bifida	ORPHA:3176
Obesity And Hypopigmentation	Hyperinsulinemia, Hepatic steatosis	OMIM:620195
Snijders Blok-Campeau Syndrome	Wide nasal bridge, Broad-based gait, Myoclonic seizure, Umbilical hernia, Prominent nose, Infanti...	OMIM:618205
Metatropic Dysplasia	Severe short stature, Narrow chest, Scoliosis, Coarse metaphyseal trabecularization, Abnormal enc...	ORPHA:2635
Lymphoblastic Leukemia, Acute, With Lymphomatous Features	T-cell acute lymphoblastic leukemias, Acute lymphoblastic leukemia, Lymphoma	OMIM:247640
Intellectual Developmental Disorder, Autosomal Recessive 66	Aggressive behavior, Attention deficit hyperactivity disorder, Gait ataxia, Excessive shyness	OMIM:618221
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl...	ORPHA:2585
Osteogenesis Imperfecta, Type Ix	Platyspondyly, Pectus carinatum, Disproportionate short-limb short stature, Kyphosis, Bowing of l...	OMIM:259440
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp...	ORPHA:276580
Amed Syndrome, Digenic	Bone marrow hypocellularity, Failure to thrive, Leukopenia, Acute myeloid leukemia, Thrombocytope...	OMIM:619151
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Broad femoral neck, Abnormal diaphysis morphology, Overtubulated long bones, Short tu...	ORPHA:85184
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla...	ORPHA:276608
Plin1-Related Familial Partial Lipodystrophy	Hepatic fibrosis, Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Abnormal circulating h...	ORPHA:280356
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Platyspondyly, Pectus carinatum, Broad femoral neck, Lumbar hyperlordosis, Genu valgum, Thoracic ...	OMIM:609223
Craniometadiaphyseal Dysplasia	Osteopenia, Wide anterior fontanel, Flared metaphysis, Broad long bones, Broad ribs, Sclerosis of...	OMIM:269300
Dislocation Of The Hip-Dysmorphism Syndrome	Wide nasal bridge, Depressed nasal ridge, Congenital hip dislocation, Deviation of finger, Anteve...	ORPHA:2412
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Preaxial Hallucal Polydactyly	Diabetes mellitus	OMIM:601759
Carpenter Syndrome 1	Lambdoidal craniosynostosis, Joint contracture of the hand, Toe syndactyly, Shallow acetabular fo...	OMIM:201000
Pelvic Hypoplasia With Lower-Limb Arthrogryposis	Narrow chest, Lumbar hyperlordosis, Knee flexion contracture, Hip contracture, Short stature, Sca...	OMIM:602484
Juvenile Myelomonocytic Leukemia	Juvenile myelomonocytic leukemia	OMIM:607785
Myeloproliferative Disease, Autosomal Recessive	Myeloproliferative disorder	OMIM:254700
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di...	OMIM:254450
Lethal Kniest-Like Dysplasia	Platyspondyly, Hypoplastic ilia, Narrow chest, Flared metaphysis, Broad long bones, Mesomelic/rhi...	ORPHA:2347
Frontonasal Dysplasia 1	Wide nasal bridge, Bifid nasal tip, Hypoplasia of the maxilla, Broad nasal tip, Joint contracture...	OMIM:136760
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperinsulinemia	ORPHA:329249
Li-Fraumeni Syndrome	Choriocarcinoma, Colon cancer, Stomach cancer, Melanoma, Hodgkin lymphoma, Acute myeloid leukemia...	ORPHA:524
Unclassified Myelodysplastic Syndrome	Bone marrow hypocellularity, Myelodysplasia, Leukocytosis, Acute myeloid leukemia, Multiple linea...	ORPHA:98827
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Pallor...	ORPHA:90039
Intellectual Developmental Disorder With Autism And Speech Delay	Inability to walk, Motor stereotypy, Reduced social reciprocity	OMIM:606053
Hyperinsulinemic Hypoglycemia, Familial, 8	Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H...	OMIM:620211
Akt2-Related Familial Partial Lipodystrophy	Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic ste...	ORPHA:79085
Fibrochondrogenesis	Hypoplastic scapulae, Narrow chest, Micromelia, Abnormal diaphysis morphology, Camptodactyly of f...	ORPHA:2021
Immunodeficiency, Common Variable, 13	Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia	OMIM:616873
Pde4D Haploinsufficiency Syndrome	Micrognathia, Prominent nasal tip, Broad phalanx, Bilateral coxa valga, Short metacarpal, Short n...	ORPHA:439822
Morbid Obesity And Spermatogenic Failure	Insulin resistance, Type II diabetes mellitus, Hepatic steatosis	OMIM:615703
Endosteal Hyperostosis, Worth Type	Sclerotic vertebral body, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnor...	ORPHA:2790
Obesity Due To Melanocortin 4 Receptor Deficiency	Hyperinsulinemia, Type II diabetes mellitus	ORPHA:71529
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Neutropenia, Myelodysplasia	OMIM:610738
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hyperinsulinemia, Hypoketotic hyp...	ORPHA:276575
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Delayed thelarche, Seizure, Generalized non-motor (absence) seizure, Dorsocervical fat pad, Joint...	OMIM:616033
Sandestig-Stefanova Syndrome	Wide nasal bridge, Retrognathia, Clinodactyly, Muscular ventricular septal defect, Intrauterine g...	OMIM:618804
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies	Wide nasal bridge, Broad nasal tip, Long philtrum, Thick nasal alae, Recurrent hand flapping, Nar...	OMIM:618147
Acromesomelic Dysplasia, Maroteaux Type	Disproportionate short stature, Kyphosis, Abnormal form of the vertebral bodies, Vertebral wedgin...	ORPHA:40
Lujan-Fryns Syndrome	Hypoplasia of the maxilla, Seizure, Camptodactyly of finger, Micrognathia, Prominent nasal bridge...	ORPHA:776
Pycnodysostosis	Small hand, Carious teeth, Delayed cranial suture closure, Hypoplastic iliac wing, Micrognathia, ...	ORPHA:763
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S...	OMIM:612840
Florid Cemento-Osseous Dysplasia	Abnormal cementum morphology, Mandibular osteomyelitis, Dental malocclusion, Periapical bone loss...	ORPHA:83451
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia, Myelodysplasia	OMIM:252270
Mody	Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes mellitus, Panc...	ORPHA:552
Immunodeficiency 76	Lymphopenia, Splenomegaly, B-cell lymphoma, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia...	OMIM:619164
Multicentric Osteolysis, Nodulosis, And Arthropathy	Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Mi...	OMIM:259600
Brachyolmia Type 1, Hobaek Type	Platyspondyly, Osteopenia, Pectus carinatum, Short iliac bones, Flattened proximal radial epiphys...	OMIM:271530
Lipodystrophy, Familial Partial, Type 3	Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II...	OMIM:604367
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a...	OMIM:159550
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Enlarged metaphyses, Severe short stature, Platyspondyly, Lower-limb metaphyseal irregularity, Po...	OMIM:618728
Aarskog-Scott Syndrome	Elevated circulating luteinizing hormone level, Cervical spine hypermobility, Hypoplasia of the o...	OMIM:305400
Saul-Wilson Syndrome	Hypoplasia of the odontoid process, Postnatal growth retardation, Talipes equinovarus, Short meta...	OMIM:618150
N Syndrome	Leukemia, Neoplasm	OMIM:310465
Fanconi Anemia, Complementation Group T	Bone marrow hypocellularity, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia, Shor...	OMIM:616435
Maxillonasal Dysplasia	Depressed nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Short distal phalanx of...	ORPHA:1248
Chromosome 16Q22 Deletion Syndrome	Narrow chest, Broad hallux, Postnatal growth retardation, Wormian bones, Short neck, Hip dysplasi...	OMIM:614541
Parastremmatic Dwarfism	Severe short stature, Genu valgum, Bowing of the long bones, Short neck, Flexion contracture, Sco...	OMIM:168400
Immunodeficiency 84	B-cell lymphoma, Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
17Q21.31 Microduplication Syndrome	Toe syndactyly, Failure to thrive, Sandal gap, Anteverted nares, Micrognathia, Malar flattening, ...	ORPHA:217340
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Platyspondyly, Shortening of all phalanges of fingers, Wormian bones, Limb undergrowth, Shortenin...	OMIM:601356
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Insulin resistance, Insulin-resistant diabetes mellitus, Polycystic ovaries, Enlarged polycystic ...	ORPHA:90301
Agammaglobulinemia 8B, Autosomal Recessive	B Acute Lymphoblastic Leukemia, Failure to thrive, Pancytopenia, Splenomegaly, Increased proporti...	OMIM:619824
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Body Mass Index Quantitative Trait Locus 19	Insulin resistance, Hyperinsulinemia, Increased serum leptin	OMIM:617885
Body Mass Index Quantitative Trait Locus 20	Hyperinsulinemia	OMIM:618406
Immunodeficiency 36 With Lymphoproliferation	Growth delay, Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, B-cell lymphoma, Increased p...	OMIM:616005
Mismatch Repair Cancer Syndrome 2	Glioblastoma multiforme, T-cell acute lymphoblastic leukemias, Colon cancer	OMIM:619096
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Cholestasis, Hyperinsulinemia, Central adr...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Cholestasis, Hyperinsulinemia, Central adr...	ORPHA:71526
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Cirrhosis, Myeloid leukemia, Leukemia	OMIM:614743
Fanconi Anemia, Complementation Group D1	Bone marrow hypocellularity, T-cell acute lymphoblastic leukemias, Failure to thrive, Intrauterin...	OMIM:605724
Essential Thrombocythemia	Acute leukemia, Leukocytosis, Splenomegaly, Abnormal platelet morphology, Thrombocytosis, Myelody...	ORPHA:3318
Spondyloepimetaphyseal Dysplasia, Irapa Type	Platyspondyly, Pectus carinatum, Synostosis of carpal bones, Abnormal epiphysis morphology, Dispr...	ORPHA:93351
Obesity Due To Sim1 Deficiency	Hyperinsulinemia, Glucose intolerance	ORPHA:369873
Mesomelic Dysplasia, Kantaputra Type	Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of...	ORPHA:1836
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Wide nasal bridge, Choanal atresia, Bifid nasal tip, Clinodactyly of the 3rd toe, Underdeveloped ...	ORPHA:521308
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Hypoplastic iliac wing, Beaking of vertebral bodies, Broad toe, Flat acetabular roof, Short foot,...	OMIM:609616
Aggressive Systemic Mastocytosis	Ascites, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of C...	ORPHA:98850
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Weight loss, Lymphadenop...	ORPHA:3226
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic failure, Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia	OMIM:261650
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Postprandial hyperglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hypoglycemia...	OMIM:262190
20P12.3 Microdeletion Syndrome	Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Broad thumb, Seizure, Malar...	ORPHA:261295
Lipodystrophy, Familial Partial, Type 4	Insulin resistance, Hepatic steatosis, Insulin-resistant diabetes mellitus	OMIM:613877
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Platyspondyly, Multiple small vertebral fractures, Hypoplasia of the maxilla, Flared metaphysis, ...	OMIM:156510
Transient Neonatal Diabetes Mellitus	Maturity-onset diabetes of the young, Hyperglycemia, Transient neonatal diabetes mellitus, Hypoth...	ORPHA:99886
Microcephaly-Capillary Malformation Syndrome	Short distal phalanx of finger, Hypoplasia of the maxilla, Small for gestational age, Failure to ...	OMIM:614261
Cohen Syndrome	Micrognathia, Genu valgum, Mitral valve prolapse, Narrow palm, Short metacarpal, Hypoplasia of th...	OMIM:216550
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Hyperactivity, Abnormal social behavior	ORPHA:436151
Axial Spondylometaphyseal Dysplasia	Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Disproportiona...	ORPHA:168549
Lipodystrophy, Congenital Generalized, Type 3	Insulin resistance, Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hepatomegaly, Diabetes m...	OMIM:612526
Acquired Partial Lipodystrophy	Insulin resistance, Hepatic steatosis	ORPHA:79087
Hoxha-Aliu Syndrome	Abnormal vertebral morphology, Overlapping toe, Absent fifth metatarsal, Atrial septal defect, Sh...	OMIM:620662
Heart Defects-Limb Shortening Syndrome	Narrow chest, Disproportionate short stature, Abnormal form of the vertebral bodies, Mesomelic/rh...	ORPHA:1354
Estrogen Resistance	Breast aplasia, Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Polycystic ovar...	OMIM:615363
Acrodysostosis	Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphology of the radius, Shor...	ORPHA:950
Gillessen-Kaesbach-Nishimura Syndrome	Retrognathia, Underdeveloped nasal alae, Abnormal heart morphology, Micrognathia, Congenital diap...	OMIM:263210
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Exocrine pancreatic insufficiency, Hyperglycemia, Maturity-onset diabetes of the young	OMIM:609812
Aarskog-Scott Syndrome	Wide nasal bridge, Hypoplasia of the maxilla, Small hand, Delayed eruption of teeth, Finger synda...	ORPHA:915
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Lymphopenia, Myelodysplasia, Eosinophilia, Acute myeloid leukemia, Hemangioma, N...	ORPHA:486
Craniofacial-Deafness-Hand Syndrome	Depressed nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Ulnar deviation of fing...	ORPHA:1529
Systemic Mastocytosis With Associated Hematologic Neoplasm	Chronic lymphatic leukemia, Acute myeloid leukemia, Hematological neoplasm, Weight loss, Neutroph...	ORPHA:98849
Spondylometaphyseal Dysplasia, A4 Type	Severe short stature, Platyspondyly, Limitation of joint mobility, Micromelia, Coxa vara, Flared,...	ORPHA:168555
Osteogenesis Imperfecta, Type Vii	Delayed cranial suture closure, Multiple prenatal fractures, Protrusio acetabuli, Osteopenia, Ver...	OMIM:610682
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi...	ORPHA:79644
Cranial Nerves, Recurrent Paresis Of	Diabetes mellitus	OMIM:218200
Dohle Bodies And Leukemia	Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies	OMIM:223350
Bdv Syndrome	Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia...	OMIM:619326
Immunodeficiency, Common Variable, 5	Abnormal T cell count, Abnormal B cell count	OMIM:613495
Cenani-Lenz Syndrome	Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Elbow dislocation, Finger synda...	ORPHA:3258
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Hypoplasia of the maxilla, Carpal osteolysis, Wrist swelling, Inability to walk, Meta...	OMIM:166300
Li-Fraumeni Syndrome	Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino...	OMIM:151623
Intellectual Developmental Disorder, Autosomal Recessive 64	Aggressive behavior, Reduced social reciprocity	OMIM:618103
Pseudoachondroplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo...	ORPHA:750
Atelosteogenesis, Type Iii	Depressed nasal bridge, Hypoplasia of the maxilla, Rhizomelia, Tombstone-shaped proximal phalange...	OMIM:108721
Larsen-Like Syndrome	Joint dislocation, Radial deviation of the 4th finger, Joint hypermobility, Kyphoscoliosis, Talip...	OMIM:608545
Spondylocostal Dysostosis 5	Severe short stature, Pectus carinatum, Butterfly vertebrae, Missing ribs, Supernumerary ribs, Sh...	OMIM:122600
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Depressed nasal bridge, Umbilical hernia, Sacral dimple, Anteverted nares, Micrognathia, Large fo...	OMIM:618272
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Wide nasal bridge, Hypoplasia of the maxilla, Seizure, Inability to walk, 2-3 toe syndactyly, Lon...	OMIM:218000
Metaphyseal Chondrodysplasia, Schmid Type	Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,...	ORPHA:174
Chromosome 3Q29 Deletion Syndrome	Pectus carinatum, Prominent nasal bridge, Gait ataxia, Thin upper lip vermilion, Aggressive behav...	OMIM:609425
Immunodeficiency 105	Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Hepatosple...	OMIM:619924
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome...	ORPHA:846
Mandibuloacral Dysplasia	Increased circulating free fatty acid level, Increased adipose tissue around the neck, Delayed cr...	ORPHA:2457
Primary Erythromelalgia	Leukemia	ORPHA:90026
Premature Aging Syndrome, Penttinen Type	Delayed cranial suture closure, Micrognathia, Aplasia of the nasal bone, Flexion contracture of f...	OMIM:601812
Hepatic Adenomas, Familial	Hepatocellular adenoma, Maturity-onset diabetes of the young, Polycystic ovaries	OMIM:142330
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Thin ribs, Platyspondyly, Multiple joint dislocation, Short femoral neck, Knee dislocation, Joint...	OMIM:618395
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Cirrhosis, Myeloid leukemia, Anemia, ...	OMIM:614742
Thanatophoric Dysplasia Type 1	Platyspondyly, Hypoplastic ilia, Narrow chest, Micromelia, Lethal short-limbed short stature, Joi...	ORPHA:1860
Grant Syndrome	Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Narrow chest, Joint dis...	ORPHA:2097
Brachytelephalangic Chondrodysplasia Punctata	Hypoplastic cervical vertebrae, Ventricular septal defect, Stippling of the epiphyses of the dist...	ORPHA:79345
Spondylocostal Dysostosis 1, Autosomal Recessive	Severe short stature, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosis, Rib ...	OMIM:277300
Peroxisome Biogenesis Disorder 12A (Zellweger)	Wide nasal bridge, Seizure, Prominent nose, Abnormal cortical bone morphology, Prominence of the ...	OMIM:614886
Lowry-Maclean Syndrome	Choanal atresia, Hypoplasia of the maxilla, Osteopenia, Retrognathia, Seizure, Small anterior fon...	ORPHA:2409
Perlman Syndrome	Wide nasal bridge, Retrognathia, Seizure, Anteverted nares, Micrognathia, Hyperinsulinemia, Ingui...	ORPHA:2849
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Short ribs, Brachyda...	OMIM:617405
Mandibuloacral Dysplasia With Type B Lipodystrophy	Insulin-resistant diabetes mellitus, Delayed cranial suture closure, Generalized lipodystrophy, H...	OMIM:608612
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Eng-Strom Syndrome	Camptodactyly of finger, Intrauterine growth retardation, Brachydactyly, Arthritis, Short stature...	ORPHA:1937
Acrootoocular Syndrome	Wide nasal base, High, narrow palate, Dental malocclusion, Delayed eruption of teeth, Short toe, ...	ORPHA:2980
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormality of neutrophils, Abnormal macrophage morphology	ORPHA:2690
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect	OMIM:615041
Maturity-Onset Diabetes Of The Young, Type 13	Hyperglycemia, Maternal diabetes, Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:616329
Acrodysostosis 1 With Or Without Hormone Resistance	Long hallux, Decreased growth hormone responses to growth hormone-releasing hormone challenge, Na...	OMIM:101800
Diabetes Mellitus, Permanent Neonatal, 4	Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis	OMIM:618858
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Hypoplasia of the odontoid process, Broad long bones, Bell-shaped thorax, Short neck, Broad phala...	OMIM:271665
Thrombocytopenia 5	Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,...	OMIM:616216
Progressive Pseudorheumatoid Arthropathy Of Childhood	Abnormal ilium morphology, Joint contracture of the hand, Infancy onset short-trunk short stature...	ORPHA:1159
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities	Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:617787
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer	Colon cancer, Acute myeloid leukemia, Adenomatous colonic polyposis	OMIM:246470
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Hypoplasia of the maxilla, Clinodactyly, Seizure, Camptodactyly of finger, Prominent nasal bridge...	ORPHA:85279
Cutis Laxa, Autosomal Recessive, Type Iia	Congenital hip dislocation, Carious teeth, Failure to thrive, Seizure, Anteverted nares, Intraute...	OMIM:219200
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Flat acetabular roof, Ovoid vertebral bodies, Disproportionate short-limb ...	OMIM:608728
Nut Midline Carcinoma	Ewing sarcoma, Neoplasm, Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell ...	ORPHA:443167
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Platyspondyly, Hip osteoarthritis, Hump-shaped mound of bone in central and posterior portions of...	OMIM:313400
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Self-injurious behavior, Broad nasal tip, Retrognathia, Inflexible adherence to routines, Open mo...	OMIM:613670
Intellectual Developmental Disorder, Autosomal Recessive 68	Wide nasal bridge, Hypoplasia of the maxilla, Small for gestational age, Seizure	OMIM:618302
Metaphyseal Chondrodysplasia, Spahr Type	Disproportionate short stature, Abnormal epiphysis morphology, Scoliosis, Reduced bone mineral de...	ORPHA:2501
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Small for gestational age, Increased mean corpuscular volume, Extramedullary hematopoiesis, Ascit...	OMIM:617021
Mantle Cell Lymphoma	B-cell lymphoma, Weight loss, Splenomegaly, Lymphadenopathy	ORPHA:52416
Catel-Manzke Syndrome	Abnormal epiphysis morphology, Failure to thrive, Camptodactyly of finger, Joint stiffness, Micro...	ORPHA:1388
Autism Spectrum Disorder Due To Auts2 Deficiency	Wide nasal bridge, Joint contracture of the hand, Congenital contracture, Retrognathia, Seizure, ...	ORPHA:352490
Diabetes Mellitus, Transient Neonatal, 3	Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes	OMIM:610582
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia, Abnormal B cell coun...	OMIM:617514
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Hypoplasia of the maxilla, Broad thumb, Focal myoclonic seizure, Seizure, Failure to thrive, Diff...	ORPHA:481152
Obesity Due To Congenital Leptin Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:66628
Pseudoachondroplasia	Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra...	OMIM:177170
Acrofacial Dysostosis Syndrome Of Rodriguez	Wide nasal bridge, Absent forearm, Short tibia, Clinodactyly, Oligodactyly, Prominent nose, Micro...	OMIM:201170
Cleidocranial Dysplasia	Hypoplastic scapulae, Carious teeth, Open bite, Micrognathia, Genu valgum, Abnormal metacarpal mo...	ORPHA:1452
Hyperinsulinism Due To Ucp2 Deficiency	Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Excessive...	ORPHA:276556
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi...	OMIM:618167
Hypothyroidism, Congenital, Nongoitrous, 4	Severe postnatal growth retardation, Wide anterior fontanel	OMIM:275100
Hip Dysplasia, Beukes Type	Broad femoral neck, Abnormal epiphysis morphology, Kyphosis, Abnormality of the epiphysis of the ...	ORPHA:2114
Dysostosis, Stanescu Type	Hypoplasia of the maxilla, Carious teeth, Abnormal epiphysis morphology, Hypoplasia of the zygoma...	ORPHA:1798
Stickler Syndrome Type 1	Platyspondyly, Hypoplasia of the maxilla, Abnormal epiphysis morphology, Abnormal vertebral epiph...	ORPHA:90653
Chromosome 9P Deletion Syndrome	Dermatoglyphic variants, Micrognathia, Ventricular septal defect, Short neck, Atrial septal defec...	OMIM:158170
Spondyloepimetaphyseal Dysplasia, Irapa Type	Platyspondyly, Pectus carinatum, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, ...	OMIM:271650
Cleidocranial Dysplasia 2	Short distal phalanx of finger, Aplastic clavicle, Broad thumb, Osteopenia, Genu valgum, Delayed ...	OMIM:620099
Acute Monoblastic/Monocytic Leukemia	Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, Lymphocytos...	ORPHA:514
Keipert Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Broad thumb, Short distal phalanx of finger, B...	ORPHA:2662
Diastrophic Dysplasia	Hypoplastic cervical vertebrae, Elbow dislocation, Bowing of the long bones, Abnormal metacarpal ...	ORPHA:628
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Hyperglycemia	OMIM:618970
Kagami-Ogata Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Retrognathia, Seizure, Anteverted nares, Micro...	OMIM:608149
Autosomal Dominant Spondylocostal Dysostosis	Severe short stature, Abnormal sacrum morphology, Short thorax, Intrauterine growth retardation, ...	ORPHA:1797
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Short stature, Abnormal rib morphology	ORPHA:2435
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume	OMIM:620044
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Severe short stature, Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Dispro...	OMIM:184250
Osteoarthritis With Mild Chondrodysplasia	Platyspondyly, Hip osteoarthritis, Schmorl's node, Joint stiffness, Knee osteoarthritis, Beaking ...	OMIM:604864
Smith-Kingsmore Syndrome	Depressed nasal bridge, Short distal phalanx of finger, Rhizomelia, Seizure, Umbilical hernia, Hy...	OMIM:616638
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Hypoplasia of the maxilla, Slender build, Prominent nasal bridge, Long palm, Scoliosis, Mandibula...	OMIM:300676
Trichorhinophalangeal Syndrome, Type Iii	Cone-shaped epiphyses of the middle phalanges of the hand, Dental crowding, Underdeveloped nasal ...	OMIM:190351
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Joint contracture of the hand, Hyperplasia of the maxilla, Difficulty wa...	OMIM:300280
Acrocapitofemoral Dysplasia	Pectus carinatum, Cone-shaped metacarpal epiphyses, Cone-shaped epiphysis, Abnormal femoral neck ...	ORPHA:63446
Insulinoma	Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden...	ORPHA:97279
Bangstad Syndrome	Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl...	ORPHA:1227
Tetrasomy 5P	Wide nasal bridge, Failure to thrive, Seizure, Anteverted nares, Micrognathia, Overlapping toe, C...	ORPHA:3309
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia, Splenomegaly	ORPHA:66518
Epiphyseal Dysplasia, Multiple, 4	Epiphyseal dysplasia, Limited elbow flexion, Hypoplasia of the femoral head, Talipes equinovarus,...	OMIM:226900
Obesity Due To Leptin Receptor Gene Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:179494
Spondylocostal Dysostosis 2, Autosomal Recessive	Vertebral segmentation defect, Rib fusion, Short neck, Disproportionate short-trunk short stature...	OMIM:608681
Autosomal Recessive Cutis Laxa Type 2A	Congenital hip dislocation, Focal impaired awareness seizure, Persistent open anterior fontanelle...	ORPHA:357058
Pallister-Hall Syndrome	Toe syndactyly, Natal tooth, Postaxial foot polydactyly, Distal shortening of limbs, Ventricular ...	OMIM:146510
Autosomal Dominant Brachyolmia	Platyspondyly, Increased vertebral height, Kyphoscoliosis, Short thorax, Short stature, Abnormal ...	ORPHA:93304
Monosomy 5P	Wide nasal bridge, Small hand, Microretrognathia, Finger syndactyly, Intrauterine growth retardat...	ORPHA:281
Gomez-Lopez-Hernandez Syndrome	Seizure, Decreased response to growth hormone stimulation test, Anteverted nares, Malar flattenin...	OMIM:601853
Foxp1 Syndrome	Recurrent upper respiratory tract infections, Broad nasal tip, Retrognathia, Seizure, Failure to ...	ORPHA:391372
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Long hallux, Hypoplastic iliac wing, Genu valgum, Delayed pubic bone ossification, Talipes equino...	OMIM:613330
Spondylometaphyseal Dysplasia, Kozlowski Type	Hypoplasia of the odontoid process, Carpal bone hypoplasia, Short neck, Disproportionate short-tr...	OMIM:184252
Teebi Hypertelorism Syndrome 2	Depressed nasal bridge, Broad nasal tip, Delayed eruption of teeth, Attention deficit hyperactivi...	OMIM:619736
Marden-Walker Syndrome	Joint contracture of the hand, Congenital contracture, Seizure, Anteverted nares, Micrognathia, I...	OMIM:248700
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Falls, Bruxism, Inappropriate laughter, Chorea, Aggressive behavior, Ataxia, Motor stereotypy	OMIM:619150
Chondrodysplasia Punctata, Autosomal Dominant	Epiphyseal stippling, Knee flexion contracture, Hip contracture, Talipes equinovarus, Hypoplasia ...	OMIM:118650
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Ataxia, Congenital hip dislocation, Seizure, Hypoglycemia, Abnormal heart morphology, Patent fora...	ORPHA:457279
Diabetes Mellitus, Permanent Neonatal, 1	Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus	OMIM:606176
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Osteopenia, Short toe, Sandal gap, Short 5th metacarpal, Anteverted nares, Clinodactyly of the 5t...	OMIM:617877
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Failure to thrive, Decreased circulating T4 concentration, Intrauterine growth r...	OMIM:608104
Pick Disease Of Brain	Inappropriate laughter, Disinhibition, Irritability, Polyphagia, Frontotemporal dementia, Emotion...	OMIM:172700
Cutaneous Neuroendocrine Carcinoma	Neoplasm of the outer ear, Squamous cell carcinoma of the skin, Chronic noninfectious lymphadenop...	ORPHA:79140
Spondylometaphyseal Dysplasia, Axial	Platyspondyly, Rhizomelia, Narrow chest, Thoracic hypoplasia, Proximal femoral metaphyseal irregu...	OMIM:602271
Cohen Syndrome	Finger syndactyly, Micrognathia, Genu valgum, Mitral valve prolapse, Ventricular septal defect, A...	ORPHA:193
Epiphyseal Dysplasia, Multiple, 6	Arthralgia of the hip, Schmorl's node, Irregular epiphyses, Small epiphyses, Flat distal femoral ...	OMIM:614135
Smith-Magenis syndrome	Brachydactyly, Motor stereotypy, Hyperactivity, Self-mutilation	DECIPHER:8
Behavioral Variant Of Frontotemporal Dementia	Restrictive behavior, Mental deterioration, Memory impairment, Inappropriate behavior, Disinhibit...	ORPHA:275864
Autosomal Recessive Distal Osteolysis Syndrome	Short distal phalanx of finger, Hypoplasia of the maxilla, Broad nasal tip, Osteolysis	ORPHA:2776
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th...	ORPHA:444463
Fibular Hemimelia	Toe syndactyly, Limitation of joint mobility, Short tibia, Limited knee flexion/extension, Finger...	ORPHA:93323
Frank-Ter Haar Syndrome	Delayed cranial suture closure, Micrognathia, Mitral valve prolapse, Ventricular septal defect, B...	OMIM:249420
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Delayed epiphyseal ossification, Abnormal vertebral morphology, Clinodactyly, Genu valgum, Cutane...	ORPHA:166024
Fraxe Intellectual Disability	Stereotypical body rocking, Prominent nasal bridge, Recurrent hand flapping, Impulsivity, Aggress...	ORPHA:100973
Leukemia, Acute Monocytic	Acute monocytic leukemia	OMIM:151380
Leukemia, Acute Lymphoblastic	Acute lymphoblastic leukemia	OMIM:613065
Leukemia, Acute Myeloid	Acute myeloid leukemia	OMIM:601626
Leukemia, Acute, X-Linked	Acute leukemia	OMIM:308960
Dental Anomalies And Short Stature	Platyspondyly, Hypoplasia of the maxilla, Herniation of intervertebral nuclei, Mitral valve prola...	OMIM:601216
Severe Neurodegenerative Syndrome With Lipodystrophy	Insulin resistance, Seizure, Progressive psychomotor deterioration, Generalized lipodystrophy, Hy...	ORPHA:363400
Renal Hypodysplasia/Aplasia 4	Pulmonary hypoplasia	OMIM:619887
Coffin-Lowry Syndrome	Craniofacial hyperostosis, Abnormal mitral valve morphology, Large hands, Short metacarpal, Wide ...	ORPHA:192
Donnai-Barrow Syndrome	Depressed nasal bridge, Seizure, Umbilical hernia, Congenital diaphragmatic hernia, Ventricular s...	ORPHA:2143
Mandibuloacral Dysplasia With Type A Lipodystrophy	Increased adipose tissue around the neck, Delayed cranial suture closure, Insulin-resistant diabe...	OMIM:248370
Autism, Susceptibility To, X-Linked 3	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:300496
Autism, Susceptibility To, X-Linked 1	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:300425
Intellectual Developmental Disorder, X-Linked 109	Stereotypical body rocking, Prominent nasal bridge, Recurrent hand flapping, Agitation, Aggressiv...	OMIM:309548
Jackson-Weiss Syndrome	Hypoplasia of the maxilla, Toe syndactyly, Preaxial foot polydactyly, Split foot, 2-3 toe syndact...	ORPHA:1540
Renal Hypodysplasia/Aplasia 2	Pulmonary hypoplasia	OMIM:615721
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Failure to thrive in infancy, Cervical lymp...	OMIM:618987
Cernunnos-Xlf Deficiency	Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia, Growth delay	ORPHA:169079
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Leukemia, Nephroblastoma, Meningioma	OMIM:602501
Congenital Generalized Lipodystrophy	Insulin resistance, Precocious puberty in females, Failure to thrive, Hypertrophic cardiomyopathy...	ORPHA:528
Intellectual Developmental Disorder With Or Without Peripheral Neuropathy	Wide nasal bridge, Unsteady gait, Small for gestational age, Retrognathia	OMIM:619844
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Platyspondyly, Rhizomelia, Narrow chest, Abnormal epiphysis morphology, Abnormal clavicle morphol...	ORPHA:93267
Immunodeficiency 50	Lymphopenia, Neutropenia	OMIM:300988
Immunodeficiency 48	Failure to thrive, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with p...	OMIM:269840
Immunodeficiency 69	Hemophagocytosis, Failure to thrive, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly...	OMIM:618963
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Pallor, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Hypochondroplasia	Abnormal pelvic girdle bone morphology, Short toe, Micromelia, Abnormal form of the vertebral bod...	ORPHA:429
Acute Panmyelosis With Myelofibrosis	Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye...	ORPHA:86843
Osteogenesis Imperfecta, Type Ii	Thin ribs, Platyspondyly, Abnormal pelvic girdle bone morphology, Disproportionate short-limb sho...	OMIM:166210
Temtamy Preaxial Brachydactyly Syndrome	Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Micrognathia, Complete duplication o...	ORPHA:363417
Short Stature, Dauber-Argente Type	Osteopenia, Delayed eruption of teeth, Fasting hyperinsulinemia, Decreased fibular diameter, Incr...	OMIM:619489
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Osteopenia, Broad thumb, Secundum atrial septal defect, Failure to thrive, Seizure, Hyperplasia o...	OMIM:620194
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Bifid nasal tip, Broad nasal tip, Secundum atrial septal defect, Retrognathia, Seizure, Umbilical...	OMIM:619758
Beta-Thalassemia Intermedia	Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Er...	ORPHA:231222
Progeroid Syndrome, Petty Type	Short distal phalanx of finger, Mandibular prognathia, Failure to thrive, Umbilical hernia, Intra...	ORPHA:2963
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Osteopenia, Joint subluxation, Kyphosis, Contracture of the proximal interphalangeal joint of the...	OMIM:130060
Trichorhinophalangeal Syndrome Type 2	Wide nasal bridge, Abnormality of the dentition, Long philtrum, Thick nasal alae, Bulbous nose, A...	ORPHA:502
Greenberg Dysplasia	Platyspondyly, Rhizomelia, Narrow chest, Abnormal pelvis bone ossification, Micromelia, Abnormal ...	ORPHA:1426
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal vertebral morphology, Elevated circulating luteinizing hormone level, Hypoplastic scapul...	ORPHA:95699
Cofs Syndrome	Wide nasal bridge, Seizure, Camptodactyly of finger, Hypogonadism, Intrauterine growth retardatio...	ORPHA:1466
Hypertriglyceridemia 1	Hypopituitarism, Glucose intolerance	OMIM:145750
Martsolf Syndrome 1	Micrognathia, Talipes equinovarus, Broad fingertip, Finger joint hypermobility, Short metacarpal,...	OMIM:212720
Agammaglobulinemia 3, Autosomal Recessive	Absent circulating B cells, Failure to thrive, Neutropenia, Abnormal T cell morphology	OMIM:613501
Desbuquois Dysplasia 1	Radial deviation of the 2nd finger, Broad first metatarsal, Talipes equinovarus, Short neck, Flat...	OMIM:251450
Dysspondyloenchondromatosis	Platyspondyly, Anisospondyly, Joint dislocation, Genu valgum, Metaphyseal enchondromatosis, Gener...	ORPHA:85198
Glioma Susceptibility 3	T-cell acute lymphoblastic leukemias, B Acute Lymphoblastic Leukemia, Medulloblastoma, Nephroblas...	OMIM:613029
Coronary Artery Disease, Autosomal Dominant 2	Glucose intolerance, Type II diabetes mellitus, Impaired glucose tolerance	OMIM:610947
Thoracolaryngopelvic Dysplasia	Hypoplastic iliac wing, Hypoplastic pelvis, Bell-shaped thorax, Horizontal ribs, Short ribs, Meta...	OMIM:187760
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Depressed nasal bridge, Tracheomalacia, Cardiomyopathy, Clinodactyly, Anteverted nares, Micrognat...	OMIM:217980
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly, Kaposi's sarcoma	OMIM:615593
8Q22.1 Microdeletion Syndrome	Wide nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Limitation of joint mobility...	ORPHA:178303
Immunodeficiency 75 With Lymphoproliferation	Lymphoma, Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memo...	OMIM:619126
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Intrauterine growt...	ORPHA:2370
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Pulmonary hypoplasia, Neonatal death	OMIM:615228
20P13 Microdeletion Syndrome	Finger syndactyly, Seizure, Clinodactyly, Failure to thrive in infancy, Prominent nasal bridge, D...	ORPHA:313781
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Broad-based gait, Clinodactyly, Micrognathia, Decreased body weight, Short neck, Short nose, Wide...	ORPHA:391408
Diabetes Mellitus, Permanent Neonatal, 2	Hyperglycemia, Type I diabetes mellitus	OMIM:618856
Intellectual Disability, Wolff Type	Wide nasal bridge, Short distal phalanx of finger, Microretrognathia, Limitation of joint mobilit...	ORPHA:3080
Immunodeficiency 104	Failure to thrive secondary to recurrent infections, Splenomegaly, Lymphadenopathy, Hepatomegaly,...	OMIM:608971
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism	OMIM:183350
Congenital Disorder Of Glycosylation, Type Iie	Secundum atrial septal defect, Retrognathia, Seizure, Failure to thrive, Hypoglycemia, Intrauteri...	OMIM:608779
Osteoglophonic Dysplasia	Hypoplastic scapulae, Broad thumb, Bowing of the long bones, Short neck, Broad phalanx, Short foo...	OMIM:166250
Feingold Syndrome 2	Short thumb, 3-4 toe syndactyly, Postnatal growth retardation, Short middle phalanx of the 2nd fi...	OMIM:614326
Immunodeficiency 8 With Lymphoproliferation	Lymphopenia	OMIM:615401
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Hypoplasia of the maxilla, Broad thumb, Seizure, Narrow nose, Narrow nasal bridge, Micrognathia, ...	OMIM:309520
Dyggve-Melchior-Clausen Disease	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Short neck, Disproportiona...	ORPHA:239
Thoracomelic Dysplasia	Abnormal pelvic girdle bone morphology, Narrow chest, Disproportionate short-limb short stature, ...	ORPHA:1803
Ciliary Dyskinesia, Primary, 33	Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti...	OMIM:616726
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Memory impairment, Long philtrum, Thick lower lip vermilion, Bulbous nose, Anteverted nares, Narr...	ORPHA:314647
Osteogenesis Imperfecta, Type Xxiii	Insulin resistance	OMIM:620639
Ritscher-Schinzel Syndrome 3	Short 1st metacarpal, Atrioventricular canal defect, Short first metatarsal, Anteverted nares, Mi...	OMIM:619135
11Q22.2Q22.3 Microdeletion Syndrome	High, narrow palate, Depressed nasal bridge, Small hand, Micrognathia, Short attention span, Thin...	ORPHA:444002
Zellweger Syndrome	Wide nasal bridge, Depressed nasal bridge, Failure to thrive, Seizure, Micrognathia, Epiphyseal s...	ORPHA:912
Acropectorovertebral Dysplasia	Abnormal vertebral morphology, Broad thumb, Toe syndactyly, Short thumb, Synostosis of carpal bon...	OMIM:102510
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Hypoplasia of the maxilla, Obesity, Cone-shaped epiphyses of the 3rd toe, Hallux valgus, Cone-sha...	ORPHA:397973
Wolfram-Like Syndrome	Male hypogonadism, Glucose intolerance, Central diabetes insipidus, Hypothyroidism, Delayed puber...	ORPHA:411590
Van Maldergem Syndrome 2	Clinodactyly, Cutaneous finger syndactyly, Micrognathia, Talipes equinovarus, Osteopenia, Hypopla...	OMIM:615546
Type 1 Diabetes Mellitus	Hyperglycemia, Diabetes mellitus	OMIM:222100
Lipodystrophy, Familial Partial, Type 6	Insulin resistance, Diabetes mellitus, Hepatic steatosis	OMIM:615980
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Decreased testicular size, Hyperinsulinemia, Type II diabetes mellitus, Cryptorchidism, Polycysti...	ORPHA:3085
Acrocallosal Syndrome	Triphalangeal thumb, Abnormal clavicle morphology, Wide anterior fontanel, Postaxial hand polydac...	ORPHA:36
Acute Peripheral Arterial Occlusion	Abnormal capillary physiology, Supraventricular tachycardia, Leukocytosis, Abnormality of venous ...	ORPHA:90064
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly, Sarcoma, Mediastinal lymp...	ORPHA:66661
Lipe-Related Familial Partial Lipodystrophy	Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic ste...	ORPHA:435660
Sprengel Deformity	Rib segmentation abnormalities, Sprengel anomaly, Hemivertebrae, Spina bifida occulta, Cervical s...	OMIM:184400
Trimethylaminuria	Anemia, Splenomegaly, Neutropenia	OMIM:602079
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Thin ribs, Radial bowing, Severe limb shortening, Short neck, Flat acetabular roof, Hypoplastic i...	OMIM:151210
Distal Limb Deficiencies-Micrognathia Syndrome	Hypoplasia of the maxilla, Microretrognathia, Aplasia/Hypoplasia of the radius, Oligodactyly, Abn...	ORPHA:1307
Congenital Lobar Emphysema	Emphysema	ORPHA:1928
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Self-injurious behavior, Motor stereotypy, Reduced social reciprocity, Inability to walk	OMIM:617820
N-Acetylaspartate Deficiency	Broad-based gait, Short attention span, Self-mutilation, Truncal ataxia, Unsteady gait, Motor ste...	OMIM:614063
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Short distal phalanx of finger, Shuffling gait, Recurrent upper respiratory tract infections, Hyp...	OMIM:300534
Van Maldergem Syndrome 1	Osteopenia, Narrow chest, Clinodactyly, Tracheomalacia, Cutaneous finger syndactyly, Joint hyperm...	OMIM:601390
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Lambdoidal craniosynostosis, Depressed nasal bridge, Choanal atresia, Coronal craniosynostosis, N...	OMIM:207410
Developmental And Epileptic Encephalopathy 73	Failure to thrive, Seizure, Narrow nasal bridge, Inguinal hernia, Hip dysplasia, Flexion contract...	OMIM:618379
Rubinstein-Taybi Syndrome 1	Broad thumb, Delayed cranial suture closure, Hypoplastic iliac wing, Micrognathia, Mitral valve p...	OMIM:180849
Spondyloepiphyseal Dysplasia Tarda	Enlarged metaphyses, Finger swelling, Limitation of joint mobility, Hypoplasia of the odontoid pr...	ORPHA:93284
Greig Cephalopolysyndactyly Syndrome	Joint contracture of the hand, Postaxial foot polydactyly, Broad thumb, Delayed cranial suture cl...	OMIM:175700
Cdkl5-Deficiency Disorder	Broad proximal phalanges of the hand, Impaired pain sensation, Difficulty walking, Bruxism, Inapp...	ORPHA:505652
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Pain insensitivity, Dental crowding, Delayed eruption of teeth, Underdeveloped nasal alae, Long p...	OMIM:618825
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Failure to thrive, Extramedullary hematopoiesis, Cholestasis, Postnatal gro...	ORPHA:79303
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Pseudobulbar paralysis, Abnormal palate morphology, Abnormal digi...	ORPHA:208441
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Aggressive behavior, Motor stereotypy, Emotional lability, Agitation	OMIM:617171
Periventricular Nodular Heterotopia 7	Microretrognathia, 1-4 toe syndactyly, Contracture of the proximal interphalangeal joint of the 2...	OMIM:617201
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Primary gonadal insufficiency, Hepatic steatosis, Insulin-resistant diabetes mellitus	ORPHA:436182
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Wide nasal bridge, Broad thumb, Retrognathia, Seizure, Failure to thrive, Inability to walk, Intr...	OMIM:617452
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration...	ORPHA:822
Spondylometaphyseal Dysplasia, Kozlowski Type	Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R...	ORPHA:93314
Peroxisome Biogenesis Disorder 3A (Zellweger)	Epiphyseal stippling, Wide anterior fontanel	OMIM:614859
Shprintzen-Goldberg Craniosynostosis Syndrome	Joint contracture of the hand, Micrognathia, Genu valgum, Mitral valve prolapse, Arachnodactyly, ...	OMIM:182212
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Depressed nasal bridge, Increased circulating IgE level, Failure to thrive in infancy, Hypoplasia...	OMIM:617241
Pandas	Depression, Abnormal fear-induced behavior, Chorea, Oppositional defiant disorder, Obsessive-comp...	ORPHA:66624
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Hepatomegaly, Weight loss, Lymphadenopathy, Anemia	ORPHA:100024
Refractory Anemia With Excess Blasts	Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytosis, Anemia of inadequate...	ORPHA:86839
Intellectual Developmental Disorder, X-Linked 72	Motor stereotypy, Hyperactivity	OMIM:300271
Trigonocephaly With Short Stature And Developmental Delay	Wide nasal bridge, Lambdoidal craniosynostosis, Seizure, Small anterior fontanelle, Inguinal hern...	OMIM:314320
Ciliary Dyskinesia, Primary, 21	Recurrent pneumonia, Bronchiectasis, Atelectasis	OMIM:615294
Dominant Beta-Thalassemia	Hepatic fibrosis, Growth delay, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence o...	ORPHA:231226
Lethal Congenital Contracture Syndrome Type 1	Limitation of joint mobility, Slender long bone, Abnormal form of the vertebral bodies, Abnormal ...	ORPHA:1486
Orofaciodigital Syndrome Type 10	Depressed nasal bridge, Polysyndactyly of hallux, Radial deviation of the hand, Retrognathia, Sho...	ORPHA:2756
Aneurysm, Intracranial Berry, 12	Fusiform cerebral aneurysm, Cerebral berry aneurysm, Subarachnoid hemorrhage, Internal carotid ar...	OMIM:618734
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent bronchitis, Atelectasis	OMIM:300455
Trichorhinophalangeal Syndrome Type 1	Pectus carinatum, Short distal phalanx of finger, Cone-shaped epiphysis, Abnormality of the denti...	ORPHA:77258
Cerebrofacioarticular Syndrome	Wide nasal bridge, Osteopenia, Hypoplasia of the maxilla, Caudal appendage, Tracheomalacia, Bilat...	ORPHA:314679
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia	OMIM:240900
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Hypoplasia of the maxilla, Elevated circulating luteinizing hormone level, Type I diabetes mellit...	ORPHA:3044
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Wide nasal bridge, Fifth finger distal phalanx clinodactyly, Multiple suture craniosynostosis, Se...	ORPHA:3369
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Micrognathia, Open mouth, Everted lower lip vermilion, Overjet, High palate, Motor stereotypy, Sh...	OMIM:618342
Distal Xq28 Microduplication Syndrome	Epistaxis, Hypoplasia of the maxilla, Recurrent upper respiratory tract infections, Broad nasal t...	ORPHA:293939
Robinow Syndrome, Autosomal Recessive 1	Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Delayed crania...	OMIM:268310
Thymoma	Aplastic anemia, Imbalanced hemoglobin synthesis, Neoplasm of head and neck, Neoplasm of the thyr...	ORPHA:99867
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Splenomegaly, Hodgkin lymphoma, Absent circulating B cells, Generalized lymphadenop...	OMIM:620282
Juberg-Hayward Syndrome	Severe short stature, Abnormal vertebral morphology, Toe syndactyly, Short thumb, Abnormality of ...	ORPHA:2319
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Depressed nasal bridge, Clinodactyly, Seizure, Umbilical hernia, Radial deviation of finger, Ante...	OMIM:301040
Marshall-Smith Syndrome	Atlantoaxial dislocation, Hypoplasia of the odontoid process, Prominence of the premaxilla, Ventr...	OMIM:602535
Intellectual Developmental Disorder, X-Linked 91	Short 5th finger, Small hand, Clinodactyly, Seizure, Obesity, Cubitus valgus, Short foot, Short nose	OMIM:300577
Childhood Disintegrative Disorder	Mental deterioration, Abnormal emotion, Reduced social reciprocity, Motor deterioration, Social a...	ORPHA:168782
Ritscher-Schinzel Syndrome 2	Short distal phalanx of finger, Prominent fingertip pads, Broad hallux, Camptodactyly of finger, ...	OMIM:300963
Pfeiffer Syndrome	Depressed nasal bridge, Choanal atresia, Coronal craniosynostosis, Hypoplasia of the maxilla, Bro...	OMIM:101600
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Attention deficit hyperactivity disorder, Motor stereotypy, Ataxia	OMIM:618709
Dyggve-Melchior-Clausen Disease	Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast...	OMIM:223800
Alg9-Cdg	Delayed cranial suture closure, Micrognathia, Ventricular septal defect, Talipes equinovarus, Sho...	ORPHA:79328
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Lymphoma, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Splenomeg...	OMIM:300853
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome	Self-injurious behavior, Micrognathia, Reduced social reciprocity, Stereotypical hand wringing	ORPHA:397933
Hallermann-Streiff Syndrome	Thin ribs, Natal tooth, Micrognathia, Narrow mouth, Everted lower lip vermilion, High palate, Cho...	OMIM:234100
Craniodiaphyseal Dysplasia	Short stature, Craniofacial hyperostosis, Diaphyseal undertubulation, Abnormal rib morphology	ORPHA:1513
Peroxisome Biogenesis Disorder 11A (Zellweger)	Depressed nasal bridge, Failure to thrive, Seizure, Anteverted nares, Large fontanelles, Wide ant...	OMIM:614883
Mismatch Repair Cancer Syndrome 1	Basal cell carcinoma, Adenocarcinoma of the colon, T-cell lymphoma, Lymphoma, Oligodendroglioma, ...	OMIM:276300
Bruck Syndrome 1	Platyspondyly, Ankle flexion contracture, Pectus carinatum, Vertebral wedging, Pterygium, Elbow f...	OMIM:259450
Oculodentodigital Dysplasia, Autosomal Recessive	Fifth finger distal phalanx clinodactyly, Macrodontia of permanent maxillary central incisor, Hyp...	OMIM:257850
Peroxisome Biogenesis Disorder 7A (Zellweger)	Talipes equinovarus, Epiphyseal stippling, Large posterior fontanelle, Wide anterior fontanel	OMIM:614872
Fibrodysplasia Ossificans Progressiva	Synostosis of joints, Abnormal vertebral morphology, Limitation of joint mobility, Ectopic ossifi...	ORPHA:337
Microphthalmia, Syndromic 12	Intestinal malrotation, Pulmonary hypoplasia, Cleft palate, Neonatal death	OMIM:615524
Opitz-Kaveggia Syndrome	Joint contracture of the hand, Broad thumb, Clinodactyly, Micrognathia, Short neck, Syndactyly, C...	OMIM:305450
Cleidocranial Dysplasia 1	Hypoplastic scapulae, Absent paranasal sinuses, Hypoplastic iliac wing, Micrognathia, Delayed pub...	OMIM:119600
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Overlapping toe, Micrognathia, Talipes equinovarus, Short neck, Beaking of vertebral bodies, Atri...	OMIM:213980
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Lissencephaly, X-Linked, 2	Wide nasal bridge, Seizure, Prominent nasal bridge, Micrognathia, Wide anterior fontanel	OMIM:300215
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Choanal atresia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Malar flatteni...	ORPHA:93262
Cleft Velum	Cleft soft palate, Velopharyngeal insufficiency, Aspiration pneumonia	ORPHA:99772
Schneckenbecken Dysplasia	Hypoplastic scapulae, Narrow vertebral interpedicular distance, Short neck, Anterior rib cupping,...	OMIM:269250
Intellectual Developmental Disorder, Autosomal Dominant 7	Thick lower lip vermilion, Bulbous nose, Inappropriate laughter, Micrognathia, Stereotypical hand...	OMIM:614104
Craniodiaphyseal Dysplasia, Autosomal Dominant	Wide nasal bridge, Depressed nasal bridge, Craniofacial hyperostosis, Craniofacial osteosclerosis...	OMIM:122860
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia	OMIM:233650
Orofaciodigital Syndrome Ii	Postaxial foot polydactyly, Micrognathia, Syndactyly, Hypoplasia of the maxilla, Broad nasal tip,...	OMIM:252100
Andersen Cardiodysrhythmic Periodic Paralysis	Small hand, Toe syndactyly, Micrognathia, Short foot, Short metacarpal, Hypoplasia of the maxilla...	OMIM:170390
Greenberg Dysplasia	Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Microgna...	OMIM:215140
Neonatal Adrenoleukodystrophy	Wide nasal bridge, Seizure, Anteverted nares, Primary adrenal insufficiency, Bilateral single tra...	ORPHA:44
Fetal Akinesia Deformation Sequence 4	Wide nasal bridge, Retrognathia, Micrognathia, Neonatal death, Short neck, Camptodactyly, Rocker ...	OMIM:618393
Beta-Thalassemia Major	Hepatic fibrosis, Growth delay, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence o...	ORPHA:231214
Tricho-Retino-Dento-Digital Syndrome	Abnormality of the dentition, Short 5th metacarpal, Oligodontia, Brachydactyly, Supernumerary tooth	ORPHA:1264
Immunodeficiency 19	Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology, Failure t...	OMIM:615617
Reticular Dysgenesis	Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus	OMIM:267500
Andersen-Tawil Syndrome	Wide nasal bridge, Hypoplasia of the maxilla, Dilated cardiomyopathy, Small hand, Seizure, Hypera...	ORPHA:37553
Mandibulofacial Dysostosis-Microcephaly Syndrome	Hypoplasia of the maxilla, Seizure, Preaxial hand polydactyly, Micrognathia, Malar flattening, At...	ORPHA:79113
Lipodystrophy, Familial Partial, Type 1	Hepatomegaly, Hyperglycemia, Acute pancreatitis, Insulin-resistant diabetes mellitus	OMIM:608600
Orofaciodigital Syndrome Iii	Bifid uvula, Postaxial foot polydactyly, Bulbous nose, Microdontia, Short sternum, Postaxial hand...	OMIM:258850
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome	Wide nasal bridge, Prominent nose, Reduced social reciprocity, Attention deficit hyperactivity di...	ORPHA:137831
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Recurrent respiratory infections, Bronchiectasis, Atelectasis	OMIM:619466
Immunodeficiency 54	Reduced natural killer cell count, Failure to thrive, Postnatal growth retardation, Intrauterine ...	OMIM:609981
Insulin-Like Growth Factor I, Resistance To	Wide nasal bridge, Small hand, Retrognathia, Clinodactyly, Short finger, Sandal gap, Radial devia...	OMIM:270450
Spondyloepimetaphyseal Dysplasia, Missouri Type	Pear-shaped vertebrae, Platyspondyly, Metaphyseal cupping, Rhizomelia, Radial bowing, Flared meta...	OMIM:602111
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Carious teeth, Dental malocclusion, Retrognathia, Abnormal heart morphology, Muscular ventricular...	ORPHA:363444
Microcephaly-Micromelia Syndrome	Absent thumb, Short tibia, Micromelia, Oligodactyly, Intrauterine growth retardation, Micrognathi...	OMIM:251230
Sweeney-Cox Syndrome	Wide nasal bridge, Choanal atresia, Short distal phalanx of finger, Broad nasal tip, Underdevelop...	OMIM:617746
Osteogenesis Imperfecta, Type Xxi	Platyspondyly, Disproportionate short-limb short stature, Bowing of the arm, Bell-shaped thorax, ...	OMIM:619131
Melnick-Needles Syndrome	Short distal phalanx of finger, Hip dislocation, Craniofacial hyperostosis, Anisospondyly, Short ...	ORPHA:2484
Heart And Brain Malformation Syndrome	Wide nasal bridge, Depressed nasal bridge, Hand clenching, Seizure, Camptodactyly of finger, Ante...	OMIM:616920
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Small for gestational age, Seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset ...	OMIM:245570
Syndromic Recessive X-Linked Ichthyosis	Short stature, Acute leukemia, Testicular seminoma	ORPHA:281090
Jeune Syndrome	Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e...	ORPHA:474
Osteopetrosis, Autosomal Recessive 2	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia, Anemia	OMIM:259710
Smith-Mccort Dysplasia 1	Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Genu valg...	OMIM:607326
Combined Immunodeficiency, X-Linked	Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-...	OMIM:312863
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Toe syndactyly, Broad thumb, Overlapping toe, Ventricular septal defect, Decreased body weight, A...	ORPHA:505237
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Insulin resistance, Male hypogonadism, Elevated circulating hepatic transaminase concentration, H...	OMIM:615381
Lig4 Syndrome	Acute leukemia, Lymphoma, Pancytopenia, Leukocytosis, Lymphadenopathy, Hepatomegaly, Growth delay	ORPHA:99812
Palatopharyngeal Incompetence	Velopharyngeal insufficiency, Cleft palate	OMIM:167500
Lethal Osteosclerotic Bone Dysplasia	Depressed nasal ridge, Retrognathia, Delayed cranial suture closure, Anteverted nares, Micrognath...	ORPHA:1832
Zimmermann-Laband Syndrome	Bifid uvula, Overtubulated long bones, Bulbous nose, Micrognathia, Wide mouth, Gingival fibromato...	ORPHA:3473
Immunodeficiency 103, Susceptibility To Fungal Infections	Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p...	OMIM:212050
Immunodeficiency 18	Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD...	OMIM:615615
Osteomesopyknosis	Sclerotic vertebral body, Abnormal form of the vertebral bodies, Abnormal cortical bone morpholog...	ORPHA:2777
Acrodysostosis 2 With Or Without Hormone Resistance	Depressed nasal bridge, Cone-shaped epiphysis, Spinal canal stenosis, Anteverted nares, Intrauter...	OMIM:614613
Alpha-Heavy Chain Disease	Lymphoma, Ascites, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia, Growth delay	ORPHA:100025
Isolated Arrhinia	Underdeveloped nasal alae, Midline defect of the nose, Aplasia/Hypoplasia of the nasal septum, Hy...	ORPHA:1134
Intellectual Developmental Disorder, Autosomal Dominant 70	Wide nasal bridge, Hypoplasia of the maxilla, Broad nasal tip, Retrognathia, Failure to thrive, M...	OMIM:620157
Osteogenesis Imperfecta, Type Xv	Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Joint hypermobility, Short s...	OMIM:615220
Estrogen Resistance Syndrome	Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Gluc...	ORPHA:785
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoketotic hypoglycemia, Hy...	ORPHA:263455
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Seizure, Gait disturbance, Truncal obesity, Scoliosis, Mandibular prognathia, Kyphosis, Short nose	ORPHA:2429
Lamb-Shaffer Syndrome	Wide nasal bridge, Depressed nasal bridge, Clinodactyly, Bulbous nose, Long hallux, Overlapping t...	OMIM:616803
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Developmental And Epileptic Encephalopathy 66	Wide nasal bridge, Macrodontia of permanent maxillary central incisor, Broad-based gait, Myocloni...	OMIM:618067
Mucopolysaccharidosis Type 4	Platyspondyly, Pectus carinatum, Abnormal epiphysis morphology, Joint dislocation, Short thorax, ...	ORPHA:582
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Thin vermilion border, Pulmonary hypoplasia, Cleft palate, Abnormal lung lobation	ORPHA:2631
Osteogenesis Imperfecta, Type V	Platyspondyly, Osteopenia, Abnormal pelvic girdle bone morphology, Vertebral wedging, Anterior ra...	OMIM:610967
Multiple Endocrine Neoplasia Type 4	Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso...	ORPHA:276152
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Umbilical hernia, Decreased circulating T4 concentration, Abnormality of thyroid physiology, Redu...	ORPHA:95715
Chromosome 15Q26-Qter Deletion Syndrome	Wide nasal bridge, Failure to thrive, Short middle phalanx of finger, Intrauterine growth retarda...	OMIM:612626
X-Linked Intellectual Disability, Sutherland-Haan Type	Hypoplasia of the maxilla, Mandibular prognathia, Small for gestational age, Decreased body weight	ORPHA:93950
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Micrognathia, Ventr...	ORPHA:96334
Verheij Syndrome	Wide nasal bridge, Short 5th finger, Hip dislocation, Broad nasal tip, Retrognathia, Seizure, Cli...	OMIM:615583
Chilblain Lupus	Chronic myelomonocytic leukemia	ORPHA:90280
Diabetes And Deafness, Maternally Inherited	Hyperglycemia, Type II diabetes mellitus	OMIM:520000
Campomelic Dysplasia	Delayed epiphyseal ossification, Hypoplastic scapulae, Carious teeth, Hypoplastic cervical verteb...	OMIM:114290
Peroxisome Biogenesis Disorder 1A (Zellweger)	Failure to thrive, Seizure, Ulnar deviation of the hand or of fingers of the hand, Anteverted nar...	OMIM:214100
Cardioacrofacial Dysplasia 1	Hypoplasia of the maxilla, Atrioventricular canal defect, Genu valgum, Complete atrioventricular ...	OMIM:619142
Acrofrontofacionasal Dysostosis 2	Broad thumb, Broad hallux, Hand polydactyly, Short stature, Wide anterior fontanel, Sacral dimple...	OMIM:239710
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Abnormal vertebral morphology, Anteverted nares, Micrognathia, Short neck, Short nose	ORPHA:2015
Split-Hand/Foot Malformation 3	Camptodactyly, Hypoplasia of the maxilla, Microretrognathia, Split hand	OMIM:246560
Weiss-Kruszka Syndrome	Abnormal heart morphology, Decreased response to growth hormone stimulation test, Single transver...	ORPHA:502430
Nance-Horan Syndrome	Abnormality of the dentition, Prominent nose, Prominent nasal bridge, Supernumerary tooth, Mandib...	ORPHA:627
Myhre Syndrome	Aortic valve stenosis, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing, Overla...	OMIM:139210
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Bronchiectasis, Atelectasis	OMIM:615872
Shprintzen-Goldberg Syndrome	Elbow dislocation, Micrognathia, Genu valgum, Mitral valve prolapse, Arachnodactyly, Bowing of th...	ORPHA:2462
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran...	OMIM:615513
2Q23.1 Microdeletion Syndrome	Self-injurious behavior, Sandal gap, Macrodontia, Open mouth, Malar flattening, Tented upper lip ...	ORPHA:228402
Halperin-Birk Syndrome	Hip dislocation, Failure to thrive, Umbilical hernia, Inability to walk, Generalized-onset seizur...	OMIM:618651
Shwachman-Diamond Syndrome 1	Failure to thrive, Persistence of hemoglobin F, Exocrine pancreatic insufficiency, Pancytopenia, ...	OMIM:260400
Distal Deletion 12Q	Overlapping toe, Micrognathia, Short neck, Large hands, Congenital hypertrophy of left ventricle,...	ORPHA:96149
Intellectual Developmental Disorder, Autosomal Dominant 26	Wide nasal bridge, Depressed nasal bridge, Kyphosis, Umbilical hernia, Anteverted nares, Microgna...	OMIM:615834
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Decrea...	OMIM:619846
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin	ORPHA:231393
Donnai-Barrow Syndrome	Depressed nasal bridge, Broad nasal tip, Seizure, Umbilical hernia, Malar flattening, Congenital ...	OMIM:222448
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Abnormal vertebral morphology, Premature osteoarthritis, Squared...	ORPHA:93352
Osteogenesis Imperfecta, Type Xvi	Platyspondyly, Osteopenia, Rhizomelia, Narrow chest, Decreased calvarial ossification, Bowing of ...	OMIM:616229
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Bone-marrow foam ce...	OMIM:607616
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Severe short stature, Platyspondyly, Rhizomelia, Disproportionate short stature, Wide anterior fo...	OMIM:616482
Microphthalmia With Limb Anomalies	Synostosis of joints, Hypoplasia of the premaxilla, Toe syndactyly, Synostosis of carpal bones, P...	ORPHA:1106
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Cardiomegaly, Failure to thrive in infancy, Lethargy, Wide anterior fontanel	OMIM:619064
Filippi Syndrome	Wide nasal bridge, 2-4 toe syndactyly, Underdeveloped nasal alae, Seizure, Finger clinodactyly, S...	OMIM:272440
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome	Wide nasal bridge, Micrognathia, Adducted thumb	ORPHA:3207
Cole-Carpenter Syndrome	Kyphosis, Abnormal form of the vertebral bodies, Intrauterine growth retardation, Joint hypermobi...	ORPHA:2050
Ogden Syndrome	Flared nostrils, Large posterior fontanelle, Delayed cranial suture closure, Micrognathia, Ventri...	OMIM:300855
Mucopolysaccharidosis, Type Iva	Constricted iliac wing, Hypoplasia of the odontoid process, Genu valgum, Short neck, Disproportio...	OMIM:253000
Transaldolase Deficiency	Depressed nasal bridge, Failure to thrive, Intrauterine growth retardation, Patent foramen ovale,...	OMIM:606003
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, Failure to thrive, Lymphopenia, B lymphocytopenia, Absent ...	ORPHA:277
Rhizomelic Chondrodysplasia Punctata, Type 2	Wide nasal bridge, Depressed nasal bridge, Osteopenia, Abnormal pelvic girdle bone morphology, Rh...	OMIM:222765
Insulin-Resistance Syndrome Type B	Postprandial hyperglycemia, Insulin resistance, Biliary cirrhosis, Glycosuria, Insulin-resistant ...	ORPHA:2298
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Memory impairment, Inappropriate behavior, Disinhibition, Aggressive behavior, Frontotemporal dem...	OMIM:600795
Acrofacial Dysostosis, Palagonia Type	High, narrow palate, Small hand, Finger syndactyly, Unilateral cleft lip, Bulbous nose, Micrognat...	ORPHA:1787
Ataxia-Telangiectasia	Failure to thrive, Lymphoma, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Ab...	OMIM:208900
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Thin ribs, Platyspondyly, Metaphyseal cupping of metacarpals, Metaphyseal cupping, Rhizomelia, Di...	OMIM:300863
Autosomal Recessive Kenny-Caffey Syndrome	Thin ribs, Small hand, Delayed cranial suture closure, Postnatal growth retardation, Intrauterine...	ORPHA:93324
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Failure...	OMIM:618534
Orofaciodigital Syndrome Type 5	High, narrow palate, Bifid uvula, Ectopic accessory finger-like appendage, Postaxial foot polydac...	ORPHA:2919
Osteogenesis Imperfecta, Type Xix	Severe short stature, Osteopenia, Rhizomelia, Pectus carinatum, Vertebral wedging, Bowing of the ...	OMIM:301014
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Genu valgum, Carpal bone hypoplasia, Wind-swept deformity of the knees, Radial head subluxation, ...	OMIM:603546
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Clinodactyly of the 2nd toe, Broad thumb, Clinodactyly of the 2nd finger, Micrognathia, Ventricul...	OMIM:620073
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Intrauterine growth retardation, Cardiomegaly, Perimembranous ventri...	OMIM:620135
Rhizomelic Limb Shortening With Dysmorphic Features	Wide nasal bridge, Short 5th finger, Rhizomelia, Prominent fingertip pads, Short thumb, Obesity, ...	OMIM:618821
Malan Syndrome	Retrognathia, Hyperplasia of the premaxilla, Advanced eruption of teeth, Coxa valga, Long fingers...	OMIM:614753
Lamb-Shaffer Syndrome	Abnormal temper tantrums, Broad nasal tip, Micrognathia, Thick vermilion border, Hyperactivity, A...	ORPHA:530983
Spastic Paraplegia 16, X-Linked	Hypoplasia of the maxilla, Short distal phalanx of finger, Shuffling gait	OMIM:300266
Multiple Acyl-Coa Dehydrogenase Deficiency	Depressed nasal bridge, Cardiomyopathy, Seizure, Inability to walk, Abnormal heart morphology, Hy...	ORPHA:26791
Diffuse Cutaneous Mastocytosis	Abnormality of the spleen, Abnormality of the liver, Lymphocytosis, Lymphadenopathy, Hepatomegaly...	ORPHA:79456
Fg Syndrome 4	Wide nasal bridge, Scoliosis, Seizure	OMIM:300422
Otopalatodigital Syndrome, Type Ii	Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Postnatal growth retardation, Ove...	OMIM:304120
Immunodeficiency 112	Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched...	OMIM:620449
Immunodeficiency 102	Nodular regenerative hyperplasia of liver, Reduced natural killer cell count, Increased proportio...	OMIM:301082
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis	OMIM:247800
Pentasomy X	Wide nasal bridge, Small hand, Camptodactyly of finger, Micrognathia, Radioulnar synostosis, Dela...	ORPHA:11
Storage Pool Platelet Disease	Decreased mean platelet volume, Acute leukemia, Myelodysplasia	OMIM:185050
Severe Intellectual Disability And Progressive Spastic Paraplegia	Everted upper lip vermilion, Difficulty walking, Bulbous nose, Wide mouth, Acetabular dysplasia, ...	ORPHA:280763
X-Linked Intellectual Disability, Porteous Type	Bulbous nose, Hypoplasia of the maxilla, Mandibular prognathia, Decreased body weight	ORPHA:93945
Activated Pi3K-Delta Syndrome	Recurrent tonsillitis, Failure to thrive, Lymphoma, Splenomegaly, Lymphadenopathy, B lymphocytope...	ORPHA:397596
Metaphyseal Chondrodysplasia, Schmid Type	Broad middle phalanx of finger, Distal tibial bowing, Genu valgum, Genu varum, Irregular vertebra...	OMIM:156500
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Lymphoma, Splenomegaly, B-cell lymphoma, Weight loss, Lymphadenopathy, Hepatomegaly, Breast carci...	ORPHA:86893
Hypomandibular Faciocranial Dysostosis	Coronal craniosynostosis, Hypoplasia of the maxilla, Micrognathia, Malar flattening, Choanal sten...	OMIM:241310
Familial Cervical Artery Dissection	Dilatation of the cerebral artery, Striae distensae, Transient ischemic attack, Cerebral ischemia...	ORPHA:36382
Saethre-Chotzen Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Broad thumb, Finger syndactyly, Seizure, Delay...	ORPHA:794
Seckel Syndrome 10	Insulin resistance, Acute pancreatitis, Elevated circulating luteinizing hormone level, Glycosuri...	OMIM:617253
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the pancreas	ORPHA:65288
Geroderma Osteodysplasticum	Platyspondyly, Osteopenia, Hypoplasia of the maxilla, Femoral bowing, Malar flattening, Increased...	OMIM:231070
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Abnormal dental enamel morphology, Supernumerary tooth, Enamel hypoplasia	ORPHA:3196
Bartsocas-Papas Syndrome 2	Axillary pterygium, Small hand, Popliteal pterygium, Absent distal phalanges, 2-5 finger cutaneou...	OMIM:619339
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p...	OMIM:618204
Nasu-Hakola Disease	Acute leukemia	ORPHA:2770
Melanocytic Nevus Syndrome, Congenital	Broad nasal tip, Anteverted nares, Prominence of the premaxilla, Narrow nasal ridge, Short nose	OMIM:137550
Isolated Klippel-Feil Syndrome	Abnormality of the vertebral column, Abnormal shoulder morphology, Cervical C2/C3 vertebral fusio...	ORPHA:2345
Chromosome 3Pter-P25 Deletion Syndrome	Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Retrognathia, Seizure, Atrioventricul...	OMIM:613792
Acrocallosal Syndrome	Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Short nose, Preaxial hand polydact...	OMIM:200990
Fanconi Anemia, Complementation Group E	Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia, Short stature, ...	OMIM:600901
Prader-Willi Syndrome	Small hand, Carious teeth, Clinodactyly, Hyperinsulinemia, Genu valgum, Type II diabetes mellitus...	OMIM:176270
Diabetes Mellitus, Permanent Neonatal, 3	Hyperglycemia, Type I diabetes mellitus, Glycosuria	OMIM:618857
Short Stature-Wormian Bones-Dextrocardia Syndrome	Wide nasal bridge, Delayed eruption of teeth, Camptodactyly of finger, Depressed nasal tip, Micro...	ORPHA:2863
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Clinodactyly of the 2nd finger, Genu valgum, Ventricular septal defect, Prominent nasal tip, Atri...	OMIM:618870
Placental Insufficiency	Insulin resistance	ORPHA:439167
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I...	OMIM:150550
3M Syndrome	Thin ribs, Short neck, Hypoplastic ischia, Abnormality of the elbow, Increased vertebral height, ...	ORPHA:2616
Holt-Oram Syndrome	Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent thumb, Kyphosis, Abnorma...	ORPHA:392
Familial Thrombocytosis	Chronic myelogenous leukemia, Splenomegaly, Acute myeloid leukemia, Weight loss, Thrombocytosis, ...	ORPHA:71493
7Q31 Microdeletion Syndrome	Hypoplasia of the maxilla, Clinodactyly of the 2nd finger, Prominent fingertip pads, Intrauterine...	ORPHA:251061
Non-Distal Duplication 10Q	Depressed nasal bridge, Micrognathia, Joint hypermobility, Cognitive impairment, Convex nasal rid...	ORPHA:1695
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Carious teeth, Natal tooth, Broad thumb, Emotional lability, Social and occupational deterioratio...	ORPHA:353281
Zimmermann-Laband Syndrome 3	Wide nasal bridge, Short distal phalanx of finger, Broad nasal tip, Aplasia of the distal phalanx...	OMIM:618658
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Neutropenia, Ane...	OMIM:603552
Intellectual Developmental Disorder, X-Linked 104	Wide nasal bridge, Bifid nasal tip, Retrognathia, Seizure, Ataxia	OMIM:300983
Fibrochondrogenesis 2	Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Bell-shaped thorax, Sh...	OMIM:614524
Agammaglobulinemia 8A, Autosomal Dominant	B lymphocytopenia	OMIM:616941
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Micrognathia, Carious teeth, Hypoplasia of the zygomatic bone, Supernumerary tooth	ORPHA:3145
Pierpont Syndrome	Broad nasal tip, Failure to thrive, Seizure, Prominent fingertip pads, Short toe, Short finger, M...	OMIM:602342
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Narrow chest, Short tibia, Large posterior fontanelle, Preaxial polydactyly, Horizontal ribs, Lon...	OMIM:617925
Nasopalpebral Lipoma-Coloboma Syndrome	Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Lipomas of eyelids, Clinoda...	OMIM:167730
Baker-Gordon Syndrome	Self-injurious behavior, Inability to walk, Thin upper lip vermilion, Smooth philtrum, Prominent ...	OMIM:618218
Van Den Ende-Gupta Syndrome	Joint contracture of the hand, Hypoplastic scapulae, Long metacarpals, Long hallux, Micrognathia,...	OMIM:600920
Mosaic Trisomy 14	Wide nasal bridge, Failure to thrive, Seizure, Camptodactyly of finger, Anteverted nares, Promine...	ORPHA:1703
Mend Syndrome	Aortic valve stenosis, Failure to thrive, Seizure, Broad hallux, Abnormal heart morphology, Sacra...	ORPHA:401973
Schwartz-Jampel Syndrome	Pursed lips, Micrognathia, Genu valgum, Narrow mouth, Hip contracture, Bowing of the long bones, ...	ORPHA:800
Chromosome 1P35 Deletion Syndrome	Wide nasal bridge, Seizure, Intrauterine growth retardation, Micrognathia, Congenital hypothyroid...	OMIM:617930
Brachydactyly-Syndactyly Syndrome	Finger syndactyly, Oligodactyly, Short digit, Brachydactyly, Camptodactyly, Short phalanx of fing...	OMIM:610713
Bartsocas-Papas Syndrome 1	Hypoplastic scapulae, Hypoplastic iliac wing, Micrognathia, Talipes equinovarus, Short neck, Abse...	OMIM:263650
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly, Hodgkin lymphoma, Lymphadenopathy, Lymphop...	OMIM:618261
Femoral-Facial Syndrome	Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Abnormal sacrum morpholo...	ORPHA:1988
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Decreased fibular diameter, Micrognathia, Ventricular septal defect, Decreased skull ossification...	OMIM:616897
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Hyperplasia of the maxilla, Myoclonus, Gait ataxia, Absence seizure with eyelid myoclonia, Bilate...	OMIM:618587
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat...	OMIM:603902
Frank-Ter Haar Syndrome	Wide nasal bridge, Depressed nasal bridge, Kyphosis, Delayed eruption of teeth, Camptodactyly of ...	ORPHA:137834
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Delayed epiphyseal ossification, Metaphyseal cupping, Narrow chest, Micromelia, Wide distal femor...	OMIM:613320
Achondrogenesis Type 1B	Severe short stature, Narrow chest, Disproportionate short stature, Abnormal enchondral ossificat...	ORPHA:93298
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Hypoplastic ilia, Platyspondyly, Narrow chest, Micromelia, Flar...	OMIM:187601
Kuskokwim Syndrome	Aplasia/Hypoplasia of the radius, Abnormal clavicle morphology, Abnormal form of the vertebral bo...	ORPHA:1149
Galactokinase Deficiency	Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly, Hepatomegaly, Hypergonadotropic hypogonadism	ORPHA:79237
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Abnormal sternum morphology, S...	ORPHA:166016
Autoimmune Hemolytic Anemia, Warm Type	Splenomegaly, Autoimmune hemolytic anemia, Chronic lymphatic leukemia, Jaundice, Lymphoproliferat...	ORPHA:90033
Intellectual Developmental Disorder, Autosomal Recessive 58	Self-injurious behavior, Aggressive behavior, Pica, Motor stereotypy, Choreoathetosis	OMIM:617270
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Hereditary Geniospasm	Abnormal lower lip morphology, Abnormal social behavior	ORPHA:53372
Spondyloepimetaphyseal Dysplasia, Shohat Type	Delayed epiphyseal ossification, Bell-shaped thorax, Narrow vertebral interpedicular distance, Sh...	OMIM:602557
Three M Syndrome 1	Short 5th finger, Joint dislocation, Slender long bone, Postnatal growth retardation, Intrauterin...	OMIM:273750
Pparg-Related Familial Partial Lipodystrophy	Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Splenomegaly, Polycys...	ORPHA:79083
Rafiq Syndrome	Wide nasal bridge, Seizure, Bulbous nose, Prominent nose, Obesity, Underdeveloped nasolabial fold...	OMIM:614202
Peroxisome Biogenesis Disorder 5A (Zellweger)	Failure to thrive, Persistent open anterior fontanelle, Seizure, Generalized-onset seizure, Intra...	OMIM:614866
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Genu valgum, Carpal bone hypoplasia, Broad phalanx, Metaphyseal dysplasia, Short foot, Genu varum...	OMIM:250420
Hypophosphatasia	Narrow chest, Large fontanelles, Bowing of the long bones, Abnormal rib morphology, Short stature...	ORPHA:436
Omenn Syndrome	Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Ly...	OMIM:603554
Autosomal Recessive Robinow Syndrome	Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Broad thumb, Open bite, Ankyloglos...	ORPHA:1507
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Bulbous nose, Hypoplasia of the maxilla	OMIM:618737
Combined Oxidative Phosphorylation Deficiency 8	Pulmonary hypoplasia, Death in childhood, Death in infancy, Neonatal death	OMIM:614096
Dural Sinus Malformation	Myelopathy, Abnormal facial vein morphology, Subdural hemorrhage, Stroke, Subarachnoid hemorrhage...	ORPHA:97339
Usher Syndrome, Type Ig	Hypoplasia of the nasal bone	OMIM:606943
Crouzon Syndrome	Choanal atresia, Hypoplasia of the maxilla, Multiple suture craniosynostosis, Convex nasal ridge,...	ORPHA:207
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
Chromosome 10Q26 Deletion Syndrome	Flared nostrils, Broad-based gait, Toe syndactyly, Micrognathia, Short neck, Atrial septal defect...	OMIM:609625
Fanconi Anemia, Complementation Group A	Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia, Short stature, ...	OMIM:227650
Dubowitz Syndrome	Small hand, Toe syndactyly, Broad thumb, Delayed cranial suture closure, Micrognathia, Aplasia/Hy...	ORPHA:235
Donohue Syndrome	Postprandial hyperglycemia, Precocious puberty, Hepatic fibrosis, Cholestasis, Hyperglycemia, Hyp...	OMIM:246200
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Depressed nasal bridge, Toe syndactyly, Seizure, Umbilical hernia, Anteverted nares, Short colume...	ORPHA:171839
Cole-Carpenter Syndrome 2	Thin ribs, Lambdoidal craniosynostosis, Coronal craniosynostosis, Osteopenia, Platyspondyly, Kyph...	OMIM:616294
Internal Carotid Absence	Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia	ORPHA:981
Intellectual Developmental Disorder, Autosomal Recessive 39	Dental malocclusion, Prominent nose, Aggressive behavior, Hallux valgus, Hyperactivity, Motor ste...	OMIM:615541
Mpi-Cdg	Hepatic fibrosis, Decreased liver function, Portal hypertension, Hypothyroidism, Hyperinsulinemic...	ORPHA:79319
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Wide nasal bridge, Osteopenia, Retrognathia, Seizure, Failure to thrive, Hypoglycemia, Intrauteri...	OMIM:618005
Acrocapitofemoral Dysplasia	Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep...	OMIM:607778
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Broad thumb, Thoracic hemivertebrae, Overlapping toe, Micrognathia, Ventricular septal defect, Bi...	ORPHA:508498
Anemia, Congenital Dyserythropoietic, Type Ib	Growth delay, Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis,...	OMIM:615631
Brachycephaly, Trichomegaly, And Developmental Delay	Depressed nasal bridge, Bifid uvula, Prominent fingertip pads, Thick lower lip vermilion, Open mo...	OMIM:617412
14Q11.2 Microdeletion Syndrome	Toe clinodactyly, Depressed nasal bridge, Toe syndactyly, Micrognathia, Ventricular septal defect...	ORPHA:261120
Lymphoproliferative Syndrome, X-Linked, 1	Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Lymphoma, Pancytopenia, Abnormal B cell...	OMIM:308240
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Growth delay, Bulging epiphyses, Rickets, Bulging of the costoch...	OMIM:600081
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	T lymphocytopenia, Failure to thrive, Failure to thrive secondary to recurrent infections, B lymp...	OMIM:601457
Osteopetrosis, Autosomal Recessive 5	Growth delay, Extramedullary hematopoiesis, Ascites, Hepatosplenomegaly, Pancytopenia, Leukocytos...	OMIM:259720
Baller-Gerold Syndrome	Lambdoidal craniosynostosis, Abnormal vertebral morphology, Carpal synostosis, Micrognathia, Larg...	OMIM:218600
3P25.3 Microdeletion Syndrome	Broad thumb, Overlapping toe, Micrognathia, Ventricular septal defect, 2-3 finger syndactyly, Atr...	ORPHA:435638
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Aplastic clavicle, Coronal craniosynostosis, Abnormal clavicle morphology, Large posterior fontan...	ORPHA:85199
Christianson Syndrome	Mandibular prognathia, Abnormality of the nose, Inappropriate laughter, Abnormal thorax morpholog...	ORPHA:85278
Intellectual Developmental Disorder, Autosomal Recessive 79	Wide nasal bridge, Slender finger, Broad-based gait, Broad nasal tip, Gait ataxia, Ventricular se...	OMIM:620393
Severe X-Linked Intellectual Disability, Gustavson Type	Congenital hip dislocation, Recurrent upper respiratory tract infections, Small fontanelle, Contr...	ORPHA:3078
Vitamin D-Dependent Rickets, Type 2A	Delayed epiphyseal ossification, Carious teeth, Difficulty walking, Fibular bowing, Secondary hyp...	OMIM:277440
Reticular Dysgenesis	Aplasia/Hypoplasia of the thymus, Failure to thrive, Leukopenia, Weight loss, Anemia, Abnormality...	ORPHA:33355
Shwachman-Diamond Syndrome	Aplastic anemia, Pancytopenia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Neutropeni...	ORPHA:811
Spondylometaphyseal Dysplasia, X-Linked	Wide nasal bridge, Depressed nasal bridge, Platyspondyly, Short finger, Anteverted nares, Scleros...	OMIM:313420
Hyperprolinemia, Type I	Aggressive behavior, Motor stereotypy, Hyperactivity, Ataxia	OMIM:239500
Ossification Of The Posterior Longitudinal Ligament Of Spine	Myelopathy, Spinal cord compression	OMIM:602475
Polycythemia Vera	Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Portal hypertension, Portal vein thromb...	ORPHA:729
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Wide nasal bridge, Depressed nasal bridge, Finger syndactyly, Seizure, Anteverted nares, Abnormal...	ORPHA:1825
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Abnormal hip bone morphology, Short neck, Hyperlordosis, Abnormal r...	ORPHA:2522
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Broad-based gait, Recurrent hand flapping, Gait ataxia, Dysphagia, Motor stereotypy	OMIM:617862
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Broad thumb, Overlapping toe, Micrognathia, Bicuspid aortic valve, Short neck, Atrial septal defe...	OMIM:612474
Santos Syndrome	Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi...	OMIM:613005
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Pulmonary hypoplasia, Absent uvula	OMIM:616531
Rabson-Mendenhall Syndrome	Insulin-resistant diabetes mellitus, Reduced subcutaneous adipose tissue, Ventricular septal defe...	ORPHA:769
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Self-injurious behavior, Downturned corners of mouth, Inability to walk, Bruxism, Motor stereotyp...	OMIM:618718
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Depressed nasal bridge, Choanal atresia, Osteopenia, Elevated circulating thyroid-stimulating hor...	OMIM:610199
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Lig4 Syndrome	Failure to thrive, Pancytopenia, Myelodysplasia, Thrombocytopenia, Acute lymphoblastic leukemia, ...	OMIM:606593
Weill-Marchesani Syndrome 1	Aortic valve stenosis, Depressed nasal bridge, Hypoplasia of the maxilla, Broad phalanges of the ...	OMIM:277600
Progressive Familial Intrahepatic Cholestasis	Failure to thrive, Cholestasis, Neoplasm, Splenomegaly, Hepatomegaly, Jaundice, Short stature	ORPHA:172
Ollier Disease	Neoplasm, Lymphangioma, Hemangioma, Anemia, Sarcoma, Multiple enchondromatosis, Visceral angiomat...	ORPHA:296
Epidermodysplasia Verruciformis, Susceptibility To, 4	Emphysema, Stomatitis	OMIM:618307
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega...	OMIM:237800
Chondrodysplasia, Blomstrand Type	Abnormal vertebral morphology, Narrow chest, Micromelia, Flared metaphysis, Advanced tarsal ossif...	OMIM:215045
Desmoplastic Small Round Cell Tumor	Ascites, Hepatomegaly, Cachexia, Weight loss, Lymphadenopathy, Testicular neoplasm, Abnormal peri...	ORPHA:83469
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Epiphyseal dysplasia, Delayed epiphyseal ossification, Premature osteoarthritis, Genu valgum, Abn...	ORPHA:93360
Bruck Syndrome	Platyspondyly, Kyphosis, Pterygium, Joint stiffness, Bowing of the long bones, Wormian bones, Tal...	ORPHA:2771
Osteopetrosis, Autosomal Recessive 3	Anemia, Hepatosplenomegaly, Short stature, Extramedullary hematopoiesis	OMIM:259730
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia	Wide nasal bridge, Underdeveloped nasal alae, Micrognathia, Joint contracture of the 5th finger, ...	OMIM:248910
Foxg1 Syndrome	Difficulty walking, Bruxism, Inability to walk, Reduced social reciprocity, Stereotypical hand wr...	ORPHA:561854
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Facial papilloma, Autoimmune hemolytic anemia, Lymphadenopathy, Neutrop...	OMIM:619220
Gray Platelet Syndrome	Myelodysplasia, Splenomegaly, Thrombocytopenia	ORPHA:721
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Dysosteosclerosis	Sclerosis of hand bone, Increased intervertebral space, Diaphyseal undertubulation, Irregular ver...	OMIM:224300
Fanconi Anemia, Complementation Group C	Bone marrow hypocellularity, Pancytopenia, Intrauterine growth retardation, Anemia, Reticulocytop...	OMIM:227645
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Thin ribs, Hypoplasia of the odontoid process, Short neck, Anterior rib cupping, Flattened epiphy...	OMIM:300232
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Failure to thrive in infancy, Splenomegaly	OMIM:619175
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Hodgkin lymphoma, Decreased proportion of class-switched memory B cells, Coombs-pos...	OMIM:619375
Frontorhiny	Hypoplasia of the maxilla, Finger clinodactyly, Camptodactyly of finger, Hypopituitarism, Lumbar ...	ORPHA:391474
Wrinkly Skin Syndrome	Carious teeth, Delayed cranial suture closure, Talipes equinovarus, Atrial septal dilatation, Ost...	OMIM:278250
Osteogenesis Imperfecta, Type Xviii	Thin ribs, Femoral bowing, Biconcave vertebral bodies, Joint hypermobility, Bowing of the long bo...	OMIM:617952
16P12.1P12.3 Triplication Syndrome	Short 5th finger, Retrognathia, Failure to thrive, Prominent fingertip pads, Abnormal heart morph...	ORPHA:485405
Smith-Magenis Syndrome	Toe syndactyly, Micrognathia, Delayed eruption of primary teeth, Short nose, Precocious puberty, ...	ORPHA:819
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie...	OMIM:618019
Distal Deletion 19P	Hypoplasia of the maxilla, Keloids, Seizure, Umbilical hernia, Ventricular septal defect, Joint h...	ORPHA:96129
Immunodeficiency, Common Variable, 1	Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph...	OMIM:607594
Wiedemann-Steiner Syndrome	Broad-based gait, Small hand, Long hallux, Contracture of the distal interphalangeal joint of the...	OMIM:605130
Acquired Generalized Lipodystrophy	Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hepatic steatosis, Pol...	ORPHA:79086
Immunodeficiency 115 With Autoinflammation	Verrucae, Intestinal lymphangiectasia, Postnatal growth retardation, Splenomegaly, Decreased prop...	OMIM:620632
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis	Wide nasal bridge, Underdeveloped nasal alae, Umbilical hernia, Micrognathia, Clinodactyly of the...	ORPHA:1516
Larsen-Like Syndrome, Lethal Type	Pulmonary hypoplasia, Neonatal death	OMIM:245650
Craniolenticulosutural Dysplasia	Osteopenia, Narrow chest, High iliac wing, Posterior wedging of vertebral bodies, Joint hypermobi...	OMIM:607812
Six2-Related Frontonasal Dysplasia	Intrauterine growth retardation, Premature posterior fontanelle closure, Metopic synostosis, Shor...	ORPHA:488437
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased circulating cortisol level, Increased urinary cortisol level, Hyperglycemia, Macronodul...	OMIM:615954
Acromesomelic Dysplasia, Hunter-Thompson Type	Acromesomelia, Abnormal pelvic girdle bone morphology, Hip dislocation, Abnormality of the ankle,...	ORPHA:968
Hiatt-Neu-Cooper Neurodevelopmental Syndrome	Wide nasal bridge, Clinodactyly, Seizure, Anteverted nares, 2-3 toe syndactyly	OMIM:619311
Immunodeficiency 95	Lymphopenia	OMIM:619773
Immunodeficiency 62	Decreased proportion of memory B cells, Autoimmune thrombocytopenia, Increased proportion of tran...	OMIM:618459
Chst3-Related Skeletal Dysplasia	Rhizomelia, Abnormal form of the vertebral bodies, Irregular epiphyses, Small epiphyses, Genu val...	ORPHA:263463
Osteogenesis Imperfecta, Type Xxii	Multiple small vertebral fractures, Slender long bone, Intrauterine growth retardation, Bowing of...	OMIM:619795
X-Linked Sideroblastic Anemia	Glucose intolerance, Splenomegaly, Elevated circulating hepatic transaminase concentration	ORPHA:75563
Combined Immunodeficiency Due To Dock8 Deficiency	Verrucae, Squamous cell carcinoma of the vulva, Squamous cell carcinoma, B lymphocytopenia, T lym...	ORPHA:217390
Potocki-Lupski Syndrome	Dental malocclusion, Failure to thrive, Seizure, Hypocholesterolemia, Micrognathia, Patent forame...	OMIM:610883
Sea-Blue Histiocyte Disease	Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Cardiocranial Syndrome, Pfeiffer Type	Wide nasal bridge, Slender finger, Small hypothenar eminence, Cutaneous syndactyly of toes, Contr...	ORPHA:2872
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Abnormal form of the vertebral bodies, Abnormality of the humeroulnar joint, Short neck, Hemivert...	ORPHA:2234
Hemochromatosis, Type 4	Glucose intolerance, Hepatic steatosis, Cirrhosis, Hepatomegaly, Diabetes mellitus, Impaired gluc...	OMIM:606069
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Clinodactyly of the 2nd finger, Absent middle phalanx of 5th finger, Micrognathia, Short neck, At...	OMIM:266920
Peho-Like Syndrome	Retrognathia, Myoclonus, Bilateral tonic-clonic seizure, Status epilepticus, Short nose, Tapered ...	OMIM:617507
Mandibulofacial Dysostosis With Alopecia	Wide nasal bridge, Hypoplasia of the maxilla, Micrognathia, Delayed eruption of primary teeth, Bi...	OMIM:616367
Trigonocephaly 2	Wide nasal bridge, Depressed nasal bridge, Metopic synostosis	OMIM:614485
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Lymphopenia, Leukopenia, Postnatal growth retardation, Splenomegaly, Hepatomegaly, Short stature	OMIM:620210
Immunodeficiency 13	Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp...	OMIM:615518
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Difficulty walking, Overlapping toe, Genu valgum, Carpal bone hypoplasia, Short neck, Beaking of ...	ORPHA:457395
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Short 5th finger, Broad thumb, Secundum atrial septal defect, Sandal gap, Broad hallux, Ventricul...	OMIM:600987
Waldenström Macroglobulinemia	Normocytic anemia, Monoclonal immunoglobulin M proteinemia, Lymphoma, Splenomegaly, Hepatomegaly,...	ORPHA:33226
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Wide nasal bridge, Failure to thrive, Seizure, Small anterior fontanelle, Prominent nasal bridge,...	OMIM:618356
Autosomal Recessive Spondylocostal Dysostosis	Finger syndactyly, Abnormal form of the vertebral bodies, Camptodactyly of finger, Short thorax, ...	ORPHA:2311
Holt-Oram Syndrome	Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Micrognathia, Ulnar deviat...	OMIM:142900
Otopalatodigital Syndrome, Type I	Toe syndactyly, Synostosis of carpal bones, Absent frontal sinuses, Short hallux, Dislocated radi...	OMIM:311300
Spastic Paraplegia 47, Autosomal Recessive	Wide nasal bridge, Seizure, Inability to walk, Bulbous nose, Acetabular dysplasia, Talipes equino...	OMIM:614066
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Wide nasal bridge, Depressed nasal bridge, Palmoplantar keratoderma, Failure to thrive	OMIM:609528
Chondrodysplasia With Joint Dislocations, Gpapp Type	Wide nasal bridge, Coronal craniosynostosis, Short toe, Micrognathia, Limited elbow extension, Ge...	OMIM:614078
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Odontochondrodysplasia	Platyspondyly, Depressed nasal bridge, Dentinogenesis imperfecta, Cone-shaped epiphysis, Square p...	ORPHA:166272
Naegeli-Franceschetti-Jadassohn Syndrome	Abnormality of the dentition, Carious teeth, Yellow-brown discoloration of the teeth, Interphalan...	ORPHA:69087
Turnpenny-Fry Syndrome	Small hand, Clinodactyly, Overlapping toe, Mitral valve prolapse, Decreased body weight, Prominen...	OMIM:618371
Cornelia De Lange Syndrome	Small hand, Toe syndactyly, Elbow dislocation, Micrognathia, Congenital diaphragmatic hernia, Bil...	ORPHA:199
Pseudoleprechaunism Syndrome, Patterson Type	Premature adrenarche, Hyperplasia of the maxilla, Prominent nose, Genu valgum, Delayed pubic bone...	ORPHA:2976
Spondylocostal Dysostosis 4, Autosomal Recessive	Block vertebrae, Abnormal odontoid process morphology, Bell-shaped thorax, Vertebral segmentation...	OMIM:613686
Acute Myelomonocytic Leukemia	Pallor, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia	ORPHA:517
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Osteopenia, Short toe, Postnatal growth retardation, Recurrent mandibular subluxations, Joint hyp...	OMIM:225410
Barth Syndrome	Abnormality of neutrophils	ORPHA:111
Lymphoproliferative Syndrome 1	Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ...	OMIM:613011
Pallister-Hall Syndrome	Toe syndactyly, Natal tooth, Broad thumb, Radial bowing, Hypopituitarism, Polydactyly affecting t...	ORPHA:672
Gorlin-Chaudhry-Moss Syndrome	Coronal craniosynostosis, Hypoplasia of the maxilla, Short distal phalanx of finger, Aplasia/Hypo...	ORPHA:2095
Spinal Dysplasia, Anhalt Type	Thoracic hemivertebrae, Narrow anterio-posterior vertebral body diameter, Osteoarthritis of the s...	OMIM:601344
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Hypoplastic left heart, Broad thumb, Scoliosis, Failure to thrive, Prominent fingertip pads, Thor...	OMIM:619721
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Glanzmann Thrombasthenia 1	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Subdural hemorrhage, Excessive bleedin...	OMIM:273800
Aneurysm, Intracranial Berry, 1	Dilatation of the cerebral artery, Intracranial hemorrhage	OMIM:105800
Cutis Laxa, Autosomal Recessive, Type Iie	Wide nasal bridge, Hip dislocation, Broad nasal tip, Lumbar hyperlordosis, Clinodactyly of the 5t...	OMIM:619451
Arthrogryposis, Distal, Type 2A	Joint contracture of the hand, Hip contracture, Hernia, Talipes equinovarus, Short neck, Flexion ...	OMIM:193700
Oligodontia	Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l...	ORPHA:99798
Aneurysm, Intracranial Berry, 2	Subarachnoid hemorrhage, Cerebral berry aneurysm	OMIM:608542
Weill-Marchesani Syndrome 2	Aortic valve stenosis, Broad phalanges of the hand, Ventricular septal defect, Short metacarpal, ...	OMIM:608328
Cowden Syndrome 5	Thyroid adenoma, Hypoplasia of the maxilla, Seizure, Subcutaneous lipoma, Goiter, Micrognathia, H...	OMIM:615108
Diabetes Insipidus, Neurohypophyseal	Osteopenia, Decreased circulating osteocalcin level, Central diabetes insipidus, Short nose, Wide...	OMIM:125700
Fibrous Dysplasia Of Bone	Increased circulating cortisol level, Osteomalacia, Difficulty walking, Abnormality of the spheno...	ORPHA:249
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Intrauteri...	ORPHA:2133
Immunodeficiency 27A	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Weight loss, Lymphadenopathy, Thrombocytosis, Ane...	OMIM:209950
Achondrogenesis, Type Ia	Unossified vertebral bodies, Hypoplastic scapulae, Abnormal femoral metaphysis morphology, Severe...	OMIM:200600
Autosomal Dominant Robinow Syndrome	Finger syndactyly, Open bite, Micrognathia, Anodontia, Short palm, Hip dislocation, Short nose, W...	ORPHA:3107
Schnitzler Syndrome	Lymphoma, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia	ORPHA:37748
Codas Syndrome	Depressed nasal bridge, Abnormal pelvic girdle bone morphology, Congenital hip dislocation, Abnor...	ORPHA:1458
Greig Cephalopolysyndactyly Syndrome	Wide nasal bridge, Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Seizure, Umbili...	ORPHA:380
Cerebral Cavernous Malformations	Cerebral cavernous malformation, Intracranial hemorrhage	OMIM:116860
C Syndrome	Toe syndactyly, Postaxial foot polydactyly, Clinodactyly, Micrognathia, Ventricular septal defect...	OMIM:211750
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Thin ribs, Short distal phalanx of finger, Short 5th finger, Triangular shaped distal phalanges o...	ORPHA:73230
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Kenny-Caffey Syndrome, Type 1	Thin ribs, Small hand, Slender long bone, Intrauterine growth retardation, Proportionate short st...	OMIM:244460
Schinzel-Giedion Syndrome	Overlapping toe, Micrognathia, Streak ovary, Overlapping fingers, Radioulnar synostosis, Short ne...	ORPHA:798
Intellectual Disability-Strabismus Syndrome	Joint contracture of the hand, Limitation of joint mobility, Micrognathia, Congenital diaphragmat...	ORPHA:363528
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Sple...	OMIM:301078
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Wide nasal bridge, Depressed nasal bridge, Arthrogryposis-like hand anomaly, Clinodactyly, Umbili...	ORPHA:369891
Smith-Magenis Syndrome	Wide nasal bridge, Abnormal forearm morphology, Scoliosis, Seizure, Abnormal heart morphology, Ab...	OMIM:182290
Chromosome 15Q11.2 Deletion Syndrome	Slender finger, Memory impairment, Clinodactyly, Short finger, Bulbous nose, Narrow nose, Microgn...	OMIM:615656
Meier-Gorlin Syndrome 7	Choanal atresia, Preaxial hand polydactyly, Complete atrioventricular canal defect, Ventricular s...	OMIM:617063
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Wide nasal bridge, Myoclonic seizure, Broad columella, Delayed cranial suture closure, Inability ...	OMIM:619383
Short Syndrome	Clinodactyly, Insulin-resistant diabetes mellitus, Hyperglycemia, Micrognathia, Reduced subcutane...	OMIM:269880
Diaphanospondylodysostosis	Enlarged thorax, Absent or minimally ossified vertebral bodies, Missing ribs, Short neck, Short t...	ORPHA:66637
Ulnar Hemimelia	Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal...	ORPHA:93320
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Micrognathia, High palate, Dysphagia, Motor stereotypy, Short nose, Self-injurious behavior, Pain...	OMIM:617061
Camptodactyly Syndrome, Guadalajara Type 1	Depressed nasal bridge, Short distal phalanx of finger, Toe syndactyly, Dental malocclusion, Shor...	ORPHA:1327
Restrictive Dermopathy 1	Natal tooth, Micrognathia, Large fontanelles, Neonatal death, Atrial septal defect, Choanal atres...	OMIM:275210
Spondylometaphyseal Dysplasia, Algerian Type	Severe short stature, Platyspondyly, Hypoplasia of proximal radius, Short tubular bones of the ha...	OMIM:184253
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
3Q13 Microdeletion Syndrome	Wide nasal bridge, Joint stiffness, Anteverted nares, Abnormality of the hand, Short neck, Abnorm...	ORPHA:1621
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Wide nasal bridge, Clinodactyly, Seizure, Anteverted nares, Micrognathia, Unilambdoid synostosis,...	OMIM:618577
Splenoportal Vascular Anomalies	Hepatic fibrosis, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system, Diabetes mellitus	OMIM:271500
3C Syndrome	Aortic valve stenosis, Finger syndactyly, Micrognathia, Abnormal mitral valve morphology, Ventric...	ORPHA:7
Tatton-Brown-Rahman Syndrome	Neuroendocrine neoplasm, Obesity, Proportionate short stature, Myeloid leukemia, Patent ductus ar...	ORPHA:404443
Developmental And Epileptic Encephalopathy 111	Hypoplastic left heart, Convulsive status epilepticus, Umbilical hernia, Biventricular hypertroph...	OMIM:620504
Myotonia With Skeletal Abnormalities And Impaired Intellectual Development	Pectus carinatum, Vertebral wedging, Irregular femoral epiphysis, Genu valgum, Bell-shaped thorax...	OMIM:255710
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Enlarged metaphyses, Abnormal ilium morphology, Postaxial foot polydactyly, Broad phalanges of th...	ORPHA:508533
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies	Wide nasal bridge, Retrognathia, Seizure, Failure to thrive, Inability to walk, Prominent nasal b...	OMIM:619556
Elsahy-Waters Syndrome	Shortening of all phalanges of fingers, Cutaneous finger syndactyly, High palate, Wide nose, Hypo...	OMIM:211380
Familial Partial Lipodystrophy, Dunnigan Type	Insulin resistance, Hepatic steatosis, Splenomegaly, Polycystic ovaries, Pancreatitis, Hepatomega...	ORPHA:2348
Distal Duplication 18Q	Progressive intervertebral space narrowing, Choanal atresia, Carious teeth, Deviation of finger, ...	ORPHA:1716
Agammaglobulinemia 2, Autosomal Recessive	Absent circulating B cells, Abnormal T cell morphology	OMIM:613500
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Retrognathia, Clinodactyly, Widely spaced teeth, Thoracic kyphosis, Gait ataxia, Impaired tactile...	OMIM:619092
Chromosome 14Q32 Duplication Syndrome, 700-Kb	Chronic myelomonocytic leukemia, Acute myeloid leukemia	OMIM:616604
Becker Nevus Syndrome	Pectus carinatum, Micromelia, Abnormal tibia morphology, Supernumerary ribs, Rib fusion, Pectus e...	ORPHA:64755
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Lymphadenitis, Lymphopenia, Hepatosplenomeg...	OMIM:618986
Rhabdoid Tumor	Renal neoplasm, Neoplasm of the liver, Weight loss, Lymphadenopathy, Thrombocytopenia, Anemia, Sa...	ORPHA:69077
Zaki Syndrome	Wide nasal bridge, Broad distal phalanx of finger, Toe syndactyly, Seizure, Ectrodactyly, Antever...	OMIM:619648
Immunodeficiency, Common Variable, 3	Decreased proportion of class-switched memory B cells, Abnormal T cell count, Abnormal B cell count	OMIM:613493
Skraban-Deardorff Syndrome	Depressed nasal bridge, Broad-based gait, Hyperplasia of the maxilla, Seizure, Anteverted nares, ...	OMIM:617616
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis	OMIM:619281
8P23.1 Microdeletion Syndrome	Broad thumb, Micrognathia, Congenital diaphragmatic hernia, Short neck, Weight loss, Short nose, ...	ORPHA:251071
Recombinant Chromosome 8 Syndrome	Depressed nasal bridge, Joint contracture of the hand, Seizure, Tetralogy of Fallot, Anteverted n...	OMIM:179613
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Wide nasal bridge, Depressed nasal bridge, Sandal gap, Abnormal form of the vertebral bodies, Abn...	ORPHA:2180
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Wide nasal bridge, Depressed nasal bridge, Parachute mitral valve, Tetralogy of Fallot, Prominent...	OMIM:618316
Shukla-Vernon Syndrome	Wide nasal base, Broad-based gait, Aggressive behavior, Attention deficit hyperactivity disorder,...	OMIM:301029
Intellectual Developmental Disorder, Autosomal Recessive 74	Wide nasal bridge, Seizure, Prominent nose, Brachydactyly, Mandibular prognathia	OMIM:617169
Craniolenticulosutural Dysplasia	Hypoplasia of the maxilla, Carious teeth, High iliac wing, Delayed eruption of teeth, Posterior w...	ORPHA:50814
Maxillonasal Dysplasia, Binder Type	Depressed nasal bridge, Short distal phalanx of finger, Dental malocclusion, Short columella, Pat...	OMIM:155050
Cowden Syndrome 6	Thyroid adenoma, Hypoplasia of the maxilla, Seizure, Subcutaneous lipoma, Goiter, Micrognathia, H...	OMIM:615109
Intellectual Developmental Disorder, Autosomal Dominant 23	Wide nasal bridge, Depressed nasal bridge, Broad distal phalanx of finger, Sandal gap, Bulbous no...	OMIM:615761
Garg-Mishra Progeroid Syndrome	Thin ribs, Platyspondyly, Narrow chest, Slender long bone, Persistent open anterior fontanelle, S...	OMIM:620601
Intellectual Developmental Disorder, X-Linked 98	Bulimia, Open mouth, Self-biting, Ataxia, Long nose, Motor stereotypy, Short nose, Downturned cor...	OMIM:300912
Cutis Laxa, Autosomal Recessive, Type Iic	Hand clenching, Narrow naris, Biventricular hypertrophy, Overlapping toe, Reduced subcutaneous ad...	OMIM:617402
Intellectual Developmental Disorder, X-Linked, Syndromic 35	Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, L...	OMIM:300998
Intellectual Developmental Disorder, Autosomal Recessive 69	Hyperplasia of the maxilla, Ataxia	OMIM:618383
Aicardi-Goutieres Syndrome 6	Intrauterine growth retardation, Splenomegaly, Thrombocytopenia, Hepatomegaly, Hemolytic anemia	OMIM:615010
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity	Postnatal growth retardation, Pancytopenia, Intrauterine growth retardation	OMIM:600546
Cooper-Jabs Syndrome	Camptodactyly of finger, Abnormal hip bone morphology, Reduced bone mineral density, Joint hyperm...	ORPHA:1488
Galactose Epimerase Deficiency	Splenomegaly, Weight loss, Hepatomegaly, Jaundice, Growth delay	ORPHA:79238
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Precocious puberty, Bilateral triphalangeal thumbs, Short distal phalanx of finger, Anteverted na...	OMIM:619356
Classic Mycosis Fungoides	Neoplasm of the skin, Lymphoma, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy, He...	ORPHA:2584
Alpha-1-Antitrypsin Deficiency	Bronchiectasis, Gastric varix, Panacinar emphysema, Chronic bronchitis	OMIM:613490
Meier-Gorlin Syndrome 1	Joint contracture of the hand, Small hand, Elbow dislocation, Cutaneous finger syndactyly, Microg...	OMIM:224690
X-Linked Acrogigantism	Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop...	ORPHA:300373
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Carious teeth, Natal tooth, Broad thumb, Micrognathia, Emotional lability, Social and occupationa...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Carious teeth, Natal tooth, Broad thumb, Micrognathia, Emotional lability, Social and occupationa...	ORPHA:353277
Nablus Mask-Like Facial Syndrome	Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Joint contracture of the ha...	OMIM:608156
Axenfeld-Rieger Syndrome, Type 2	Wide nasal bridge, Hypoplasia of the maxilla, Umbilical hernia, Abnormal heart morphology, Inguin...	OMIM:601499
Weismann-Netter Syndrome	Severe short stature, Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Ab...	ORPHA:3344
Myoclonic-Astatic Epilepsy	Wide nasal bridge, Long philtrum, Thick lower lip vermilion, Thick nasal alae, Anteverted nares, ...	ORPHA:1942
Nager Syndrome	Hypoplasia of the maxilla, Aplasia/Hypoplasia of the radius, Hypoplasia of the zygomatic bone, Jo...	ORPHA:245
Cantu Syndrome	Broad first metatarsal, Bicuspid aortic valve, Hypoplastic ischiopubic ramus, Short hallux, Short...	OMIM:239850
Oculodentodigital Dysplasia	Carious teeth, Toe syndactyly, Finger syndactyly, Clinodactyly, Micrognathia, Ventricular septal ...	ORPHA:2710
Atelis Syndrome 2	Elevated circulating thyroid-stimulating hormone concentration, Seizure, Clinodactyly, Sacral dim...	OMIM:620185
Isolated Agammaglobulinemia	Failure to thrive, Abnormal lymphocyte morphology, Abnormality of the lymphatic system, Abnormali...	ORPHA:229717
Crouzon Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Hypoplasia of the maxilla, Seizure, Abnorm...	OMIM:123500
Harel-Yoon Syndrome	Scoliosis, Generalized non-motor (absence) seizure, Inability to walk, Hypertrophic cardiomyopath...	OMIM:617183
Fetal Trimethadione Syndrome	Depressed nasal bridge, Tetralogy of Fallot, Intrauterine growth retardation, Micrognathia, Bilat...	ORPHA:1913
Maturity-Onset Diabetes Of The Young, Type 14	Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:616511
Coffin-Siris Syndrome 6	Depressed nasal bridge, Broad nasal tip, Retrognathia, Seizure, Clinodactyly, Micrognathia, Kypho...	OMIM:617808
Zttk Syndrome	Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Small hand, Kyphosis, Failu...	OMIM:617140
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Short stature, Vertebral segmentation defect, Short neck, Abnormal rib morphology	ORPHA:2578
Syngap1-Related Developmental And Epileptic Encephalopathy	Abnormal eating behavior, Recurrent hand flapping, Obsessive-compulsive trait, Reduced social rec...	ORPHA:544254
Recon Progeroid Syndrome	Underdeveloped nasal alae, Anteverted nares, Prominent nasal bridge, Long thumb, Prominence of th...	OMIM:620370
Bone Marrow Failure Syndrome 3	Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Failure to thriv...	OMIM:617052
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Failure to thrive, Lymphopenia, Lymph node ...	OMIM:602450
Lymphoproliferative Syndrome 2	Aplastic anemia, Hemophagocytosis, Lymphoma, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomeg...	OMIM:615122
Angelman Syndrome	Hypoplasia of the maxilla, Broad-based gait, Seizure, Obesity, Progressive gait ataxia, Ataxia, S...	OMIM:105830
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Self-injurious behavior, Abnormal temper tantrums, Mandibular prognathia, Depression, Recurrent h...	ORPHA:449291
Mitochondrial Complex I Deficiency, Nuclear Type 18	Wide anterior fontanel	OMIM:618240
Apert Syndrome	Depressed nasal bridge, Choanal atresia, Hypoplasia of the maxilla, Toe syndactyly, Delayed erupt...	ORPHA:87
Freeman-Sheldon Syndrome	Wide nasal bridge, Depressed nasal ridge, Ulnar deviation of finger, Failure to thrive, Underdeve...	ORPHA:2053
Arthrogryposis, Distal, Type 2B1	Wide nasal bridge, Rocker bottom foot, Arthrogryposis multiplex congenita, Scoliosis, Camptodacty...	OMIM:601680
Gapo Syndrome	Depressed nasal bridge, Eruption failure, Seizure, Delayed cranial suture closure, Umbilical hern...	OMIM:230740
Idiopathic Bronchiectasis	Emphysema, Respiratory tract infection, Acute infectious pneumonia, Recurrent lower respiratory t...	ORPHA:60033
Congenital Heart Defects And Skeletal Malformations Syndrome	Carious teeth, Failure to thrive, Sandal gap, Narrow nose, Intrauterine growth retardation, Clino...	OMIM:617602
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	Wide nasal bridge, Congenital contracture, Seizure, Enlarged naris, Umbilical hernia, Elbow flexi...	OMIM:616266
Immunodeficiency 57 With Autoinflammation	Reduced natural killer cell count, Failure to thrive, Perianal abscess, B lymphocytopenia, T lymp...	OMIM:618108
Brunet-Wagner Neurodevelopmental Syndrome	Self-injurious behavior, Thick vermilion border, Motor stereotypy, Wide nasal bridge	OMIM:619690
Noonan Syndrome 6	Short stature, Growth delay, Juvenile myelomonocytic leukemia	OMIM:613224
Spondyloepiphyseal Dysplasia, Maroteaux Type	Platyspondyly, Pectus carinatum, Atlantoaxial instability, Genu valgum, Kyphoscoliosis, Short nec...	OMIM:184095
Poland Syndrome	Short ribs, Rib fusion, Unilateral oligodactyly, Sprengel anomaly, Hemivertebrae, Unilateral brac...	OMIM:173800
3Mc Syndrome 1	Short 5th finger, Lambdoidal craniosynostosis, Coronal craniosynostosis, Caudal appendage, Postna...	OMIM:257920
Osteogenesis Imperfecta, Type X	Thin ribs, Genu valgum, Fibular bowing, Bowing of the long bones, Osteopenia, Thoracic hypoplasia...	OMIM:613848
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Failure to thrive, Hepatic steatosis, Splenomegaly, Hepatomegaly, Short stature	OMIM:614480
Immunodeficiency 32B	Failure to thrive, Impaired oxidative burst, Splenomegaly, Hepatomegaly, Eosinophilia, Monocytope...	OMIM:226990
Achondrogenesis Type 1A	Severe short stature, Narrow chest, Abnormal enchondral ossification, Micromelia, Multiple rib fr...	ORPHA:93299
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased adiponectin level, Insulin resistance, Increased adipose tissue around the neck, Increa...	ORPHA:280365
Intellectual Developmental Disorder, Autosomal Recessive 38	Narrow palate, Sandal gap, Recurrent hand flapping, Self-mutilation, Diminished ability to concen...	OMIM:615516
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect, Seizure	OMIM:619170
Smith-Lemli-Opitz Syndrome	Postaxial foot polydactyly, Finger syndactyly, Micrognathia, Abnormal metacarpal morphology, Hip ...	ORPHA:818
19P13.12 Microdeletion Syndrome	Finger syndactyly, Ventricular septal defect, Short neck, Atrial septal defect, Precocious pubert...	ORPHA:254346
Fanconi Anemia, Complementation Group N	Aplastic anemia, Postnatal growth retardation, Medulloblastoma, Nephroblastoma, Acute myeloid leu...	OMIM:610832
Temple-Baraitser Syndrome	Depressed nasal bridge, Short distal phalanx of finger, Broad thumb, Broad hallux, Seizure, Thick...	OMIM:611816
Hsd10 Disease	Short attention span, Gait disturbance, Ataxia, Dysphagia, Abnormal social behavior, Choreoathetosis	ORPHA:391417
Mucopolysaccharidosis, Type Ivb	Constricted iliac wing, Hypoplasia of the odontoid process, Genu valgum, Disproportionate short-t...	OMIM:253010
Cortical Dysplasia, Complex, With Other Brain Malformations 2	Self-injurious behavior, Small hand, Short foot, Motor stereotypy	OMIM:615282
Joubert Syndrome 15	Exencephaly	OMIM:614464
Lessel-Kreienkamp Syndrome	Wide nasal bridge, Dental malocclusion, Seizure, Patent foramen ovale, Wide cranial sutures, Bicu...	OMIM:619149
Regional Odontodysplasia	Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental...	ORPHA:83450
Miller-Dieker Syndrome	Seizure, Sacral dimple, Anteverted nares, Omphalocele, Ataxia, Clinodactyly of the 5th finger, Sh...	ORPHA:531
Sweet Syndrome	Neoplasm, Leukocytosis, Chronic lymphatic leukemia, Acute myeloid leukemia, Hematological neoplas...	ORPHA:3243
Chung-Jansen Syndrome	Anteverted nares, Micrognathia, Obesity, Joint hypermobility, Attention deficit hyperactivity dis...	OMIM:617991
Bloom Syndrome	Neoplasm of the skin, Neoplasm of the colon, Stomach cancer, Abscess, Abnormal proportion of CD8-...	ORPHA:125
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Wide nasal bridge, Small hand, Seizure, Enlarged naris, Elbow flexion contracture, Anteverted nar...	ORPHA:371364
Oslam Syndrome	Short stature, Abnormality of neutrophils, Increased mean corpuscular volume, Osteosarcoma	ORPHA:2760
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Emotional lability, Disinhibition, Frontotemporal dementia, Dysphagia, Motor stereotypy	OMIM:612069
Blepharophimosis-Impaired Intellectual Development Syndrome	Overfriendliness, Motor stereotypy, Wide nose, Thin upper lip vermilion, Attention deficit hypera...	OMIM:619293
Cowden Syndrome 1	Hypoplasia of the maxilla, Thyroid adenoma, Seizure, Subcutaneous lipoma, Goiter, Micrognathia, H...	OMIM:158350
Epidermodysplasia Verruciformis, Susceptibility To, 5	Squamous cell carcinoma of the skin, Lymphopenia, T lymphocytopenia, Verrucae	OMIM:618309
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:618852
Chromosome 2Q37 Deletion Syndrome	Self-injurious behavior, Pain insensitivity, Depressed nasal bridge, Broad nasal tip, Short toe, ...	OMIM:600430
Mpdu1-Cdg	Seizure, Decreased response to growth hormone stimulation test, Prominent frontal sinuses, Elevat...	ORPHA:79323
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Micrognathia, Arthrogryposis multiplex congenita	OMIM:601809
48,Xxyy Syndrome	Broad jaw, Carious teeth, Depression, Delayed eruption of teeth, Thick lower lip vermilion, Abnor...	ORPHA:10
Leukemia, Chronic Lymphocytic	Chronic lymphatic leukemia	OMIM:151400
Leukemia, Chronic Lymphocytic, Susceptibility To, 2	Chronic lymphatic leukemia	OMIM:109543
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome	Wide nasal bridge, Cleft ala nasi, Convex nasal ridge, Underdeveloped nasal alae	ORPHA:2007
Nphp3-Related Meckel-Like Syndrome	Intestinal malrotation, Pulmonary hypoplasia	ORPHA:3032
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Absent circulating B cells	OMIM:619707
Myhre Syndrome	Precocious puberty, Craniofacial hyperostosis, Hypoplasia of the maxilla, Platyspondyly, Abnormal...	ORPHA:2588
Bone Marrow Failure Syndrome 6	Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp...	OMIM:618849
Toriello-Carey Syndrome	Clinodactyly, Cardiomyopathy, Seizure, Tetralogy of Fallot, Intrauterine growth retardation, Micr...	ORPHA:3338
Porphyria Due To Ala Dehydratase Deficiency	Abnormal erythrocyte enzyme concentration or activity, Myeloproliferative disorder	ORPHA:100924
Hall-Riggs Syndrome	Wide nasal bridge, Platyspondyly, Abnormal epiphysis morphology, Delayed eruption of teeth, Seizu...	ORPHA:2107
Warburg Micro Syndrome 1	Wide nasal bridge, Failure to thrive, Anteverted nares, Micrognathia, Overlapping toe, Joint hype...	OMIM:600118
Congenital Disorder Of Glycosylation, Type Il	Hypoalbuminemia, Depressed nasal bridge, Kyphosis, Failure to thrive, Seizure, Hypocholesterolemi...	OMIM:608776
Turcot Syndrome With Polyposis	Glioma, Hepatoblastoma, Brain neoplasm, Desmoid tumors, Basal cell carcinoma, Leukemia, Glioblast...	ORPHA:99818
Floating-Harbor Syndrome	Broad-based gait, Carious teeth, Clinodactyly, Short neck, Atrial septal defect, Broad fingertip,...	ORPHA:2044
Mitchell-Riley Syndrome	Annular pancreas, Pancreatic hypoplasia, Cholestasis, Hyperglycemia, Absent gallbladder, Biliary ...	OMIM:615710
Bent Bone Dysplasia Syndrome 2	Thin ribs, Short tibia, Hypoplastic iliac wing, Talipes equinovarus, Short neck, Osteopenia, Shor...	OMIM:620076
Pyoderma Gangrenosum	Myelodysplasia, Myeloid leukemia	ORPHA:48104
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Seizure, Camptodactyly of finger, Intrauterine growth retardation, Micrognathia, Short nose	ORPHA:1495
Parietal Foramina With Cleidocranial Dysplasia	Short clavicles, Widely patent fontanelles and sutures	OMIM:168550
Autism, Susceptibility To, 3	Restrictive behavior, Impaired ability to form peer relationships, Motor stereotypy, Inflexible a...	OMIM:608049
Neurocutaneous Melanocytosis	Syringomyelia, Meningocele, Intracranial hemorrhage	ORPHA:2481
Fontaine Progeroid Syndrome	Micrognathia, Reduced subcutaneous adipose tissue, Neonatal death, Bicuspid aortic valve, Atrial ...	OMIM:612289
Female Restricted Epilepsy With Intellectual Disability	Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Abnormal soci...	ORPHA:101039
Congenital Heart Block	Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block...	ORPHA:60041
Leishmaniasis	Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Hepatomegaly, Weight loss...	ORPHA:507
Developmental And Epileptic Encephalopathy 58	Inability to walk, Motor stereotypy	OMIM:617830
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Restrictive cardiomyopathy, Clinodactyly, Depressed nasal tip, Patent foramen ovale, Osteolysis i...	ORPHA:88630
Combined Oxidative Phosphorylation Deficiency 17	Postnatal growth retardation, Intrauterine growth retardation, Death in childhood, Death in infancy	OMIM:615440
Immunodeficiency 7	Failure to thrive, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy,...	OMIM:615387
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Anteverted nares, Ventricular septal defect, Clinodactyly of the 5th finger, Rocker bottom foot, ...	OMIM:618506
Orofaciodigital Syndrome I	Carious teeth, Clinodactyly, Ankyloglossia, High palate, Syndactyly, Hamartoma of tongue, Polydac...	OMIM:311200
Suleiman-El-Hattab Syndrome	Wide nasal bridge, Microretrognathia, Failure to thrive, Seizure, Clinodactyly, Inguinal hernia, ...	OMIM:618950
Leukodystrophy, Hypomyelinating, 24	Severe short stature, B lymphocytopenia	OMIM:619851
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Depressed nasal bridge, Retrognathia, Seizure, Preaxial polydactyly, Intrauterine growth retardat...	OMIM:618142
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Failure to thrive, Underdeveloped nasal alae, Seizure, Prominent fingertip pads, Micrognathia, Mi...	OMIM:300986
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:610539
Robinow Syndrome, Autosomal Dominant 1	Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Micrognathia, Short neck, Bro...	OMIM:180700
Microphthalmia With Limb Anomalies	Flared nostrils, Toe syndactyly, Postaxial foot polydactyly, Talipes equinovarus, 2-5 toe syndact...	OMIM:206920
Bone Dysplasia, Lethal Holmgren Type	Depressed nasal ridge, Rhizomelia, Abnormal epiphysis morphology, Failure to thrive, Abnormal dia...	ORPHA:1842
Intellectual Developmental Disorder, Autosomal Recessive 5	Wide nasal bridge, Broad-based gait, Underdeveloped nasal alae, Seizure, Prominent nose, Prominen...	OMIM:611091
Congenital Disorder Of Glycosylation, Type If	Failure to thrive, Seizure, Ataxia, Flexion contracture, Wide anterior fontanel	OMIM:609180
Thanatophoric Dysplasia, Type I	Small abnormally formed scapulae, Hypoplastic ilia, Platyspondyly, Narrow chest, Disproportionate...	OMIM:187600
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Micrognathia, Ventricular septal defect, Atrial septal defect, Scoliosis, Sacral dimple	OMIM:608227
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Dilated cardiomyopathy, Failure to thrive, Fasting h...	ORPHA:71212
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Narrow chest, Thoracic dysplasia, Bell-shaped thorax, Horizontal ribs, Postaxial polydactyly, Bra...	OMIM:615633
Tonne-Kalscheuer Syndrome	Wide nasal bridge, Broad-based gait, Broad thumb, Abnormal heart morphology, Prominent nose, Prom...	OMIM:300978
Sandhoff Disease	Hepatomegaly, Splenomegaly, Failure to thrive	ORPHA:796
Developmental And Speech Delay Due To Sox5 Deficiency	Self-injurious behavior, Pectus carinatum, Narrow palate, Exaggerated median tongue furrow, Denta...	ORPHA:313892
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Dislocation of the femoral h...	OMIM:616007
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Pulmonary hypoplasia	OMIM:613124
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ...	OMIM:300106
Chromosome 19Q13.11 Deletion Syndrome, Distal	Wide nasal bridge, Carious teeth, Retrognathia, Underdeveloped nasal alae, Febrile seizure (withi...	OMIM:613026
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination	Difficulty walking, Broad nasal tip, Motor stereotypy, Irritability	OMIM:617393
14Q11.2 Microduplication Syndrome	Wide nasal bridge, Depressed nasal bridge, Seizure, Obesity, Micrognathia, Attention deficit hype...	ORPHA:261229
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Wide nasal bridge, Precocious puberty, Broad-based gait, Seizure, Bulbous nose, Anteverted nares,...	OMIM:300958
Ceroid Lipofuscinosis, Neuronal, 10	Wide nasal bridge, Ataxia, Mental deterioration, Myoclonic seizure, Seizure, Neonatal death, Spli...	OMIM:610127
Chromosome 6Q11-Q14 Deletion Syndrome	Broad nasal tip, Umbilical hernia, Sacral dimple, Micrognathia, Prominent nasal bridge, Inguinal ...	OMIM:613544
Distal Deletion 10Q	Clinodactyly, Micrognathia, Atrial septal defect, Ataxia, Unsteady gait, Hip dislocation, Short n...	ORPHA:96148
Lipodystrophy, Congenital Generalized, Type 4	Insulin resistance, Osteopenia, Failure to thrive, Decreased circulating IgA level, Hyperinsuline...	OMIM:613327
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia	OMIM:613101
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Oligodactyly, Craniosynostosis, Humeroradial synostosis, Arachnodactyly	OMIM:614416
Lissencephaly Syndrome, Norman-Roberts Type	Wide nasal bridge, Microretrognathia, Seizure, Intrauterine growth retardation, Patent foramen ov...	ORPHA:89844
Rhizomelic Dysplasia, Patterson-Lowry Type	Depressed nasal ridge, Rhizomelia, Deviation of finger, Abnormal form of the vertebral bodies, Ge...	ORPHA:2831
Cri-Du-Chat Syndrome	Difficulty walking, Overfriendliness, High palate, Motor stereotypy, Short metacarpal, Anterior o...	OMIM:123450
Ophthalmoplegia, External, And Myopia	Spina bifida	OMIM:311000
Thiamine-Responsive Megaloblastic Anemia Syndrome	Congestive heart failure, Pallor, Stroke, Paroxysmal atrial tachycardia, Megaloblastic anemia, Th...	ORPHA:49827
Radio-Tartaglia Syndrome	Wide nasal bridge, Depressed nasal bridge, Precocious puberty, Retrognathia, Seizure, Bulbous nos...	OMIM:619312
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Narrow mouth, Ataxia, High palate, Short foot, Dysphagia, Motor stereotypy, Pain insensitivity, D...	OMIM:300260
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Seizure, Intrauterine growth retardation, Micrognathia, Joint contracture, Slender nose, Scoliosi...	OMIM:615419
Bangstad Syndrome	Primary gonadal insufficiency, Insulin-resistant diabetes mellitus, Goiter	OMIM:210740
Otopalatodigital Syndrome Type 1	Wide nasal bridge, Depressed nasal bridge, Short distal phalanx of finger, Limitation of joint mo...	ORPHA:90650
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Wide nasal bridge, Cone-shaped epiphysis, Short toe, Seizure, Short finger, Broad hallux, Microgn...	OMIM:618659
Potocki-Shaffer Syndrome	Wide nasal bridge, Seizure, Underdeveloped nasal alae, Single transverse palmar crease, Wormian b...	OMIM:601224
Phaver Syndrome	Ulnar deviation of finger, Broad thumb, Short thumb, Abnormal form of the vertebral bodies, Campt...	ORPHA:2876
Stickler Syndrome	Slender build, Micrognathia, Genu valgum, Mitral valve prolapse, Arachnodactyly, Cachexia, Hip di...	ORPHA:828
Bronchopulmonary Dysplasia	Emphysema, Abnormal lung morphology, Pulmonary sequestration, Atelectasis	ORPHA:70589
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Intraalveolar phospholipid accumulation, Death in childhood, Death in infancy, Death in adolescen...	OMIM:618042
Primrose Syndrome	Genu valgum, Hip contracture, Ataxia, Irregular vertebral endplates, Hypoplasia of the maxilla, B...	OMIM:259050
Marshall Syndrome	Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Hypoplasia of the zygomatic...	ORPHA:560
Galloway-Mowat Syndrome 6	Downturned corners of mouth, Anteverted nares, Wide mouth, Microdontia, Motor stereotypy, Clinoda...	OMIM:618347
Goldberg-Shprintzen Syndrome	Wide nasal bridge, Hypoplasia of the maxilla, Small hand, Bulbous nose, Prominent nasal bridge, V...	OMIM:609460
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Aggressive behavior, Broad-based gait, Motor stereotypy, Hyperactivity	OMIM:619470
Zollinger-Ellison Syndrome	Hyperparathyroidism, Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pi...	ORPHA:913
Parkes Weber Syndrome	Dural ectasia, Arteriovenous malformation, Myelopathy, Vascular tortuosity, Abnormal bleeding, Sk...	ORPHA:90307
Immunodeficiency 114, Folate-Responsive	Lymphopenia, Postnatal growth retardation, Splenomegaly, Megaloblastic anemia, Thrombocytopenia, ...	OMIM:620603
Frontal Encephalocele	Hydrocephalus, Encephalocele, Spina bifida	ORPHA:1931
Birt-Hogg-Dubé Syndrome	Emphysema, Pneumothorax, Pulmonary sequestration	ORPHA:122
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Wide nasal bridge, Limitation of joint mobility, Carpal osteolysis, Wrist swelling, Camptodactyly...	ORPHA:2774
Caspase 8 Deficiency	Failure to thrive, Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, Short stature	OMIM:607271
Cleft Palate, Deafness, And Oligodontia	Agenesis of permanent teeth, Cleft soft palate, Oligodontia of primary teeth	OMIM:216300
Acromicric Dysplasia	Small hand, Fifth metacarpal with ulnar notch, Abnormal epiphysis morphology, Bulbous nose, Joint...	ORPHA:969
Desbuquois Dysplasia 2	Epiphyseal dysplasia, Broad thumb, Postnatal growth retardation, Short neck, Radial head subluxat...	OMIM:615777
Respiratory Distress Syndrome In Premature Infants	Pulmonary edema, Atelectasis	OMIM:267450
Polyrrhinia	Abnormal external nose morphology, Abnormal nasal bone morphology, Supernumerary naris	ORPHA:141091
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Wide nasal bridge, Depressed nasal bridge, Broad distal phalanx of finger, Postaxial foot polydac...	ORPHA:404440
Gaucher Disease, Type Iii	Pancytopenia, Splenomegaly, Decreased body weight, Thrombocytopenia, Hepatomegaly, Short stature	OMIM:231000
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Wide nasal bridge, Bulbous nose, Thin upper lip vermilion, Aggressive behavior, Attention deficit...	OMIM:620292
Cleft Lip/Palate	Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Oral-pharyngeal dys...	ORPHA:199306
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Micromelia, Intrauterine growth retardation, Micrognathia, Malar flattening, C...	ORPHA:2145
Tarp Syndrome	Clinodactyly, Micrognathia, Large fontanelles, Neonatal death, Talipes equinovarus, Atrial septal...	OMIM:311900
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Delayed epiphyseal ossification, Growth delay, Bulging epiphyses, Rickets, Bulging of the costoch...	OMIM:241530
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Wide nasal bridge, Coronal craniosynostosis, Retrognathia, Underdeveloped nasal alae, Failure to ...	ORPHA:83617
Autoinflammation With Infantile Enterocolitis	Reduced natural killer cell count, Failure to thrive, Pancytopenia, Splenomegaly, Thrombocytopeni...	OMIM:616050
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Emphysema, Respiratory tract infection, Chronic bronchitis, Honeycomb lung, Hypersensitivity pneu...	ORPHA:79127
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Recurrent upper respiratory tract infections, Supernumerary tooth, Persistence of primary teeth, ...	OMIM:619752
Immunodeficiency 70	Verrucae, Decreased proportion of CD4-positive helper T cells, B lymphocytopenia	OMIM:618969
X-Linked Hypophosphatemia	Limitation of joint mobility, Genu valgum, Bowing of the long bones, Vertebral hyperostosis, Genu...	ORPHA:89936
Postaxial Tetramelic Oligodactyly	Abnormal finger morphology, Abnormal metacarpal morphology, Oligodactyly, Ectrodactyly	ORPHA:2730
Bloom Syndrome	Lymphoma, Postnatal growth retardation, Intrauterine growth retardation, Hepatic steatosis, Squam...	OMIM:210900
Rothmund-Thomson Syndrome Type 1	Neoplasm of the skin, Basal cell carcinoma, Aplastic anemia, Growth delay, Melanoma, Anemia, Squa...	ORPHA:221008
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Cidec-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Polycystic o...	ORPHA:435651
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Failure to thrive, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly,...	ORPHA:169154
Developmental And Epileptic Encephalopathy 107	Motor stereotypy	OMIM:620033
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells	OMIM:618982
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Aplasia/Hypoplasia of fingers, Pectus carinatum, Toe syndactyly, Abnormal epiphysis morphology, M...	ORPHA:3082
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Wide nasal bridge, Seizure, Enlarged naris, Ulnar deviation of the hand or of fingers of the hand...	ORPHA:562528
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Increased circulating c...	ORPHA:139507
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Large posterior fontanelle, Widened greater sciatic notch, Talip...	OMIM:250220
Multiple Epiphyseal Dysplasia Type 5	Multiple small vertebral fractures, Arthralgia of the hip, Abnormality of the epiphyses of the fe...	ORPHA:93311
Osteogenesis Imperfecta, Type Xi	Osteopenia, Vertebral wedging, Increased susceptibility to fractures, Biconcave vertebral bodies,...	OMIM:610968
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Abnormal vertebral morphology, Limitation of joint mobility, Abnormal joint...	ORPHA:1427
Congenital Disorder Of Glycosylation, Type Iu	Congenital contracture, Seizure, Micrognathia, Elevated circulating creatine kinase concentration...	OMIM:615042
Meier-Gorlin Syndrome 5	Hypoplasia of the maxilla, Failure to thrive, Elbow dislocation, Clinodactyly, Slender long bone,...	OMIM:613805
Atypical Rett Syndrome	Restrictive behavior, Small hand, Impaired pain sensation, Inability to walk, Bruxism, Inappropri...	ORPHA:3095
Ruvalcaba Syndrome	Small hand, Cone-shaped epiphysis, Synostosis of carpal bones, Micromelia, Seizure, Kyphosis, Abn...	ORPHA:3121
Pitt-Hopkins-Like Syndrome 1	Reduced social reciprocity, Aggressive behavior, Attention deficit hyperactivity disorder, Hypera...	OMIM:610042
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype...	OMIM:601859
Spondyloepiphyseal Dysplasia Tarda With Characteristic Facies	Wide nasal bridge, Broad nasal tip, Flattened knee epiphyses	OMIM:600093
Mulibrey Nanism	Wide nasal bridge, Depressed nasal bridge, Dental malocclusion, Myocardial fibrosis, Intrauterine...	OMIM:253250
Nasopalpebral Lipoma-Coloboma Syndrome	Hypoplasia of the maxilla, Recurrent upper respiratory tract infections, Depressed nasal tip, Mul...	ORPHA:2399
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Short 5th finger, Scoliosis, Seizure, Umbilical hernia, Abnormal heart morphology, Anteverted nar...	ORPHA:500159
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Postprandial hyperglycemia, Ketotic hypoglycemia, Elevated circulating hepatic transaminase conce...	ORPHA:2089
Chromosome 5Q12 Deletion Syndrome	Decreased body mass index, Seizure, Febrile seizure (within the age range of 3 months to 6 years)...	OMIM:615668
Adenylosuccinate Lyase Deficiency	Anteverted nares, Seizure, Short nose, Prominent metopic ridge	ORPHA:46
Frontometaphyseal Dysplasia 1	Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Mitral va...	OMIM:305620
6Q25 Microdeletion Syndrome	Wide nasal bridge, Failure to thrive, Seizure, Camptodactyly of finger, Micrognathia, Malar flatt...	ORPHA:251056
Edinburgh Malformation Syndrome	Choanal atresia, Slender finger, Ulnar deviation of finger, Failure to thrive, Seizure, Anteverte...	ORPHA:1895
Fanconi Anemia, Complementation Group D2	Bone marrow hypocellularity, Small for gestational age, Annular pancreas, Pancytopenia, Anemia, R...	OMIM:227646
Nestor-Guillermo Progeria Syndrome	Micrognathia, Limited elbow movement, Right atrial enlargement, Left atrial enlargement, Flexion ...	OMIM:614008
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Depressed nasal bridge, Downturned corners of mouth, Inability to walk, Anteverted nares, 2-3 toe...	OMIM:613443
Mitochondrial Myopathy And Sideroblastic Anemia	Micrognathia, Delayed puberty, Scoliosis, Kyphosis, Short nose	ORPHA:2598
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Delayed epiphyseal ossification, Hypoplastic iliac wing, Postnatal growth retardation, Carpal bon...	OMIM:611717
Osteopetrosis, Autosomal Recessive 8	Failure to thrive, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:615085
Short Syndrome	Wide nasal bridge, Insulin resistance, Abnormal mandible morphology, Abnormal dental enamel morph...	ORPHA:3163
Familial Nasal Acilia	Recurrent upper respiratory tract infections, Bronchiectasis, Atelectasis	ORPHA:922
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Seizure, Hypertrophic cardiomyopathy, Micrognathia, Gait ataxia, Delayed puberty, Hip dysplasia, ...	ORPHA:496790
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Failure to thrive, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphadeno...	OMIM:618495
Mhc Class I Deficiency 1	Emphysema, Bronchiectasis, Bronchiolitis, Recurrent bronchitis	OMIM:604571
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Intrauterine growth retardation, Abnormal pelvic girdle bone morphology, Slender long bone, Abnor...	ORPHA:1506
Duplication Of The Pituitary Gland	Retrognathia, Self-mutilation, Thoracic scoliosis, Supernumerary tooth, Wide mouth, Cleft palate	ORPHA:314621
Velo-Facial-Skeletal Syndrome	Wide nasal bridge, Prominent fingertip pads, Abnormal thumb morphology, Large hands, Clinodactyly...	ORPHA:3424
Mucopolysaccharidosis, Type X	Platyspondyly, Broad clavicles, Irregular acetabular roof, Broad ribs, Genu valgum, Spatulate rib...	OMIM:619698
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures	Attention deficit hyperactivity disorder, Spastic ataxia, Motor stereotypy, Widely spaced teeth	OMIM:618906
Axenfeld-Rieger Syndrome	Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Abnormality of the hypothal...	ORPHA:782
Alg12-Cdg	Recurrent hypoglycemia, Biventricular hypertrophy, Overlapping fingers, Micrognathia, Abnormal ci...	ORPHA:79324
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Congenital Factor Ii Deficiency	Epistaxis, Prolonged bleeding following circumcision, Abnormal bleeding, Excessive bleeding from ...	ORPHA:325
Breath-Holding Spells	Iron deficiency anemia, Pallor	OMIM:607578
Beta-Mercaptolactate Cysteine Disulfiduria	Sandal gap, Seizure, Umbilical hernia, Micromelia, Anteverted nares, Obesity, Genu valgum, Joint ...	ORPHA:1035
Craniofrontonasal Dysplasia	Wide nasal bridge, Depressed nasal ridge, Finger syndactyly, Sandal gap, Camptodactyly of finger,...	ORPHA:1520
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Wide nasal bridge, Precocious puberty, Scoliosis, Abnormal epiphysis morphology, Retrognathia, Un...	ORPHA:2637
Tumor Predisposition Syndrome 2	Meningioma, Juvenile type ovarian granulosa cell tumor, Schwannoma, Ductal carcinoma in situ, Uve...	OMIM:619975
Nance-Horan Syndrome	Diastema, Supernumerary maxillary incisor, Prominent nose, Prominent nasal bridge, Mulberry molar...	OMIM:302350
Orofaciodigital Syndrome Xi	Wide nasal bridge, Hypoplasia of the odontoid process, Seizure, Bulbous nose, Kyphoscoliosis, Pos...	OMIM:612913
Geroderma Osteodysplastica	Severe short stature, Platyspondyly, Pectus carinatum, Abnormal epiphysis morphology, Abnormal fo...	ORPHA:2078
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo...	OMIM:619897
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute monocytic leukemia, Lymphoma, Abnormal dense granule content, Abnormal platelet shape, Acut...	OMIM:601399
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Mediasti...	OMIM:619802
Achondrogenesis	Abnormal enchondral ossification, Micromelia, Umbilical hernia, Anteverted nares, Micrognathia, I...	ORPHA:932
Noonan Syndrome 13	Wide nasal bridge, Clinodactyly, Generalized-onset seizure, Anteverted nares, Micrognathia, Infan...	OMIM:619087
Lipodystrophy, Congenital Generalized, Type 2	Umbilical hernia, Hypertrophic cardiomyopathy, Hyperinsulinemia, Type II diabetes mellitus, Reduc...	OMIM:269700
Acrofacial Dysostosis, Cincinnati Type	Biventricular hypertrophy, Micrognathia, Ventricular septal defect, Decreased body weight, Bicusp...	OMIM:616462
Intellectual Developmental Disorder, Autosomal Recessive 41	Self-injurious behavior, Broad nasal tip, Retrognathia, Prominent fingertip pads, Motor stereotyp...	OMIM:615637
Diamond-Blackfan Anemia	Adenocarcinoma of the colon, Macrocytic dyserythropoietic anemia, Increased mean corpuscular volu...	ORPHA:124
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Pulmonary hypoplasia, High palate, Dental crowding, Stillbirth	OMIM:617468
Immunodeficiency 68	Lymphadenitis, Abscess, B lymphocytopenia, Abnormal natural killer cell count, T lymphocytopenia	OMIM:612260
Achondrogenesis, Type Ii	Disproportionate short-limb short stature, Broad long bones, Short tubular bones of the hand, Hyp...	OMIM:200610
Rothmund-Thomson Syndrome	Neoplasm of the skin, Basal cell carcinoma, Aplastic anemia, Melanoma, Anemia, Squamous cell carc...	ORPHA:2909
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Neutropenia, Abnormal T cell morphology	OMIM:615214
Hallermann-Streiff Syndrome	High, narrow palate, Choanal atresia, Rib exostoses, Small hand, Natal tooth, Abnormality of the ...	ORPHA:2108
White Forelock With Malformations	Finger syndactyly, Joint hypermobility, Spina bifida occulta, Sprengel anomaly, Abnormal rib morp...	ORPHA:2475
Pontocerebellar Hypoplasia, Type 11	Self-injurious behavior, Broad-based gait, Difficulty walking, Bulbous nose, Inability to walk, L...	OMIM:617695
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Broad nasal tip, Myoclonic seizure, Anteverted nares, Micrognathia, Inguinal hernia, Multifocal s...	OMIM:618548
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Broad-based gait, Short 5th toe, Cleft soft palate, Ataxia, Dysphagia, Short nose, Broad nasal ti...	ORPHA:268261
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Underdeveloped nasal alae, Camptodactyly of finger, Seizure, Intrauterine growth retardation, Mic...	ORPHA:2083
Circumvallate Placenta Syndrome	Intracranial hemorrhage	OMIM:215550
Rothmund-Thomson Syndrome Type 2	Neoplasm of the skin, Basal cell carcinoma, Aplastic anemia, Growth delay, Lymphoma, Melanoma, An...	ORPHA:221016
Pancreatic Agenesis 1	Exocrine pancreatic insufficiency, Neonatal insulin-dependent diabetes mellitus, Pancreatic hypop...	OMIM:260370
Immunodeficiency, Common Variable, 2	Abnormal T cell count, Lymphoma, Neoplasm, Splenomegaly, Follicular hyperplasia, Lymphadenopathy,...	OMIM:240500
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Attention deficit hyperactivity disorder, Motor stereotypy	OMIM:620065
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i...	OMIM:617780
Intellectual Developmental Disorder, Autosomal Dominant 1	Micrognathia, Open mouth, Polyphagia, Everted lower lip vermilion, Ataxia, Short foot, Short nose...	OMIM:156200
14Q24.1Q24.3 Microdeletion Syndrome	Wide nasal bridge, Short thumb, Abnormal heart morphology, Prominent nasal bridge, Limited elbow ...	ORPHA:401935
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hypoplasia of the maxilla, Abnormality of the vertebral column, Malar flattening, Hip dislocation...	OMIM:109120
Agammaglobulinemia 6, Autosomal Recessive	Abnormal T cell morphology, B lymphocytopenia	OMIM:612692
Al Kaissi Syndrome	Wide nasal bridge, Depressed nasal bridge, Broad-based gait, Broad nasal tip, Small hand, Clinoda...	OMIM:617694
Xq28 (MECP2) duplication	Depressed nasal bridge, Depression, Inability to walk, Gait ataxia, Narrow mouth, Malar flattenin...	DECIPHER:45
17Q23.1Q23.2 Microdeletion Syndrome	Depressed nasal bridge, Shallow acetabular fossae, Congenital contracture, Failure to thrive, Lim...	ORPHA:261279
Al-Raqad Syndrome	Sandal gap, Seizure, Inability to walk, Gait ataxia, Joint hypermobility, Atrial septal defect, B...	OMIM:616459
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol...	ORPHA:766
Immune Thrombocytopenia	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hemorrhage of the eye, Bruising suscep...	ORPHA:3002
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Slender finger, Broad thumb, Failure to thrive, Seizure, Umbilical hernia, Bulbous nose, Inguinal...	ORPHA:329224
Intellectual Developmental Disorder, Autosomal Dominant 65	Wide nasal bridge, Seizure, Bulbous nose, Anteverted nares, Micrognathia, Infantile spasms, Singl...	OMIM:619320
Atypical Werner Syndrome	Aortic valve stenosis, Aortic valve calcification, Limitation of joint mobility, Insulin-resistan...	ORPHA:79474
3Mc Syndrome 2	Wide nasal bridge, Abnormal vertebral morphology, Caudal appendage, Abnormality of the vertebral ...	OMIM:265050
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Failure to thrive, Seizure, Narrow nasal bridge, Infantile spasms, Wrist hypermobility, Inguinal ...	ORPHA:544503
Macrocephaly-Intellectual Disability-Autism Syndrome	Depressed nasal bridge, Seizure, Preaxial hand polydactyly, Thyroid carcinoma, Attention deficit ...	ORPHA:210548
Immunodeficiency, Common Variable, 6	Abnormal T cell count, Abnormal B cell count, Hepatomegaly, Autoimmune thrombocytopenia, Enlarged...	OMIM:613496
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Failure to thrive, Splenomegaly, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia	ORPHA:79312
Follicular Lymphoma	Lymphoma, Splenomegaly, Weight loss, Lymphadenopathy, Abnormal peritoneum morphology, Mediastinal...	ORPHA:545
Bohring-Opitz Syndrome	Overlapping toe, Micrognathia, Ventricular septal defect, Atrial septal defect, Dislocated radial...	OMIM:605039
Sotos Syndrome	Long metacarpals, Genu valgum, Ventricular septal defect, Increased body weight, Long phalanx of ...	OMIM:117550
Alazami Syndrome	Wide nasal bridge, Depressed nasal bridge, Malar flattening, Decreased body weight, Scoliosis, Wi...	OMIM:615071
Lipodystrophy, Familial Partial, Type 2	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ...	OMIM:151660
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Persistent open anterior fontanelle, Atrophic scars, Inguinal hernia, Patent foramen ovale, Mitra...	OMIM:615539
Heart Defects, Congenital, And Other Congenital Anomalies	Total absence of the pericardium, Hyperglycemia, Congenital diaphragmatic hernia, Ventricular sep...	OMIM:600001
Leukemia, Chronic Myeloid	Chronic myelogenous leukemia, Ph-positive acute lymphoblastic leukemia	OMIM:608232
Snakebite Envenomation	Gingival bleeding, Epistaxis, Hypotension, Cardiogenic shock, Abnormal bleeding, Erythema, Cerebr...	ORPHA:449285
Klippel-Feil Syndrome 1, Autosomal Dominant	Cervical C2/C3 vertebral fusion, Short neck, Sprengel anomaly, Abnormal limb bone morphology, Abn...	OMIM:118100
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, T lymphocytopenia	OMIM:618806
Congenital Factor V Deficiency	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hematochezia, Prolonged bleeding follo...	ORPHA:326
Coffin-Siris Syndrome 7	Depressed nasal bridge, Downturned corners of mouth, Thick lower lip vermilion, Thick nasal alae,...	OMIM:618027
Congenital Factor Xiii Deficiency	Gingival bleeding, Epistaxis, Delayed onset bleeding, Prolonged bleeding following circumcision, ...	ORPHA:331
Cleft Soft Palate	Cleft soft palate	OMIM:119570
Congenital Syphilis	Extramedullary hematopoiesis, Hepatosplenomegaly, Intrauterine growth retardation, Prolonged neon...	ORPHA:499009
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema	OMIM:614100
Acrocephalopolydactyly	Depressed nasal ridge, Short neck, Limb undergrowth, Brachydactyly, Short long bone, Premature cl...	ORPHA:221054
Afibrinogenemia, Congenital	Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr...	OMIM:202400
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Disproportionate short-limb short stature, Micromelia, Intrauterine growth retardation, Decreased...	ORPHA:2772
Congenital Disorder Of Glycosylation, Type Ib	Hepatic fibrosis, Hepatic failure, Cirrhosis, Hyperinsulinemic hypoglycemia, Hepatomegaly	OMIM:602579
Costello Syndrome	Depressed nasal bridge, Failure to thrive, Tracheomalacia, Hypoglycemia, Hypertrophic cardiomyopa...	OMIM:218040
Hemochromatosis, Type 3	Anemia, Lymphopenia, Cirrhosis, Neutropenia	OMIM:604250
Systemic Lupus Erythematosus 17	Lymphopenia, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia	OMIM:301080
Polyendocrine-Polyneuropathy Syndrome	Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Decreased testi...	ORPHA:453533
Immunodeficiency 85 And Autoimmunity	Decreased proportion of memory B cells, Reduced natural killer cell count, Failure to thrive in i...	OMIM:619510
Orofacial Cleft 13	Cleft soft palate, Oligodontia	OMIM:613857
Seizures-Scoliosis-Macrocephaly Syndrome	Broad-based gait, Seizure, Bulbous nose, Overlapping toe, Atrial septal defect, Scoliosis, Reduce...	ORPHA:466926
Bainbridge-Ropers Syndrome	Hand clenching, Micrognathia, Large fontanelles, Arachnodactyly, Short nose, Precocious puberty, ...	OMIM:615485
Aicardi-Goutieres Syndrome 4	Hepatosplenomegaly, Pancytopenia, Intrauterine growth retardation, Splenomegaly, Thrombocytopenia...	OMIM:610333
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Wide nasal bridge, Seizure, Difficulty walking, Inability to walk, Slender build, Joint hypermobi...	OMIM:611087
Rothmund-Thomson Syndrome, Type 2	Depressed nasal bridge, Small hand, Congenital hip dislocation, Delayed eruption of teeth, Short ...	OMIM:268400
Mitochondrial Complex I Deficiency, Nuclear Type 35	Pulmonary hypoplasia, Neonatal death	OMIM:619003
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Teebi Hypertelorism Syndrome 1	Wide nasal bridge, Depressed nasal bridge, Coronal craniosynostosis, Small hand, Natal tooth, Ant...	OMIM:145420
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Wide nasal bridge, Hypoplasia of the frontal bone, Hypoplasia of the maxilla, Underdeveloped nasa...	ORPHA:306542
Mosaic Variegated Aneuploidy Syndrome 1	Postnatal growth retardation, Intrauterine growth retardation, Nephroblastoma, Embryonal rhabdomy...	OMIM:257300
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Wide nasal bridge, Clinodactyly, Bulbous nose, Anteverted nares, Micrognathia, Intrauterine growt...	OMIM:613604
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w...	OMIM:619313
Mucolipidosis Iii Alpha/Beta	Shallow acetabular fossae, Limitation of joint mobility, Broad ribs, Irregular carpal bones, Spon...	OMIM:252600
Pseudohermaphroditism, Female, With Skeletal Anomalies	Short mandibular condyles, Hypoplasia of the maxilla, Ulnar radial head dislocation	OMIM:264270
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperglycemia	OMIM:604484
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Failure to thrive, Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Reduced red cell adeno...	OMIM:102700
Chromosome 18Q Deletion Syndrome	Aortic valve stenosis, Broad-based gait, Toe syndactyly, Overlapping toe, Ventricular septal defe...	OMIM:601808
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Depressed nasal bridge, Sandal gap, Downturned corners of mouth, Bulbous nose, Open mouth, Tented...	OMIM:618430
Proximal 16P11.2 Microdeletion Syndrome	Abnormal vertebral morphology, Failure to thrive, Seizure, Abnormal heart morphology, Obesity, Mi...	ORPHA:261197
Distal 7Q11.23 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Atrial septal defect, Seizure	ORPHA:254351
Kahrizi Syndrome	Wide nasal bridge, Seizure, Elbow contracture, Bulbous nose, Knee flexion contracture, Thoracic k...	OMIM:612713
Wolman Disease	Hepatomegaly, Splenomegaly, Failure to thrive	OMIM:620151
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Failure to thrive, Lymphadenopathy, Thrombocytopenia, B l...	OMIM:618048
Meier-Gorlin Syndrome 3	Hypoplasia of the maxilla, Microretrognathia, Failure to thrive, Tracheomalacia, Slender long bon...	OMIM:613803
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Hypoplasia of the maxilla, Micrognathia, Failure to thrive, Decreased pineal volume	OMIM:301108
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities	Wide nasal bridge, Long philtrum, Attention deficit hyperactivity disorder, Clinodactyly of the 5...	OMIM:620502
Chromosome 1P36 Deletion Syndrome, Distal	Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Short foot, Short 5th fin...	OMIM:607872
Growth Delay Due To Insulin-Like Growth Factor I Resistance	Wide nasal bridge, Broad nasal tip, Clinodactyly, Intrauterine growth retardation, Short palm	ORPHA:73273
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Anemia, Purpura, Pulmonary embolism, Cerebral hemorrhage	OMIM:614514
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Genu valgum, Narrow vertebral interpedicular distance, Lumbar interpedicular narrowing, Genu varu...	OMIM:271510
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Congenital hip dislocation, Broad nasal tip, Carious teeth, Failure to thrive, Seizure, Abnormal ...	ORPHA:357074
49,Xxxyy Syndrome	Wide nasal bridge, Recurrent upper respiratory tract infections, Male hypogonadism, Finger clinod...	ORPHA:261534
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Radial bowing, Intrauterine growth retardation, Tibial bowing, Lower limb undergrowth, Bowing of ...	ORPHA:3035
Otopalatodigital Syndrome Type 2	Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Micrognathia, ...	ORPHA:90652
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Leukemia, Myelodysplasia	OMIM:619951
Fgfr2-Related Bent Bone Dysplasia	Hepatosplenomegaly, Extramedullary hematopoiesis	ORPHA:313855
Autosomal Recessive Omodysplasia	Mesomelia, Depressed nasal bridge, Rhizomelia, Elbow dislocation, Micromelia, Anteverted nares, M...	ORPHA:93329
Hypocalcemic Vitamin D-Resistant Rickets	Coarse metaphyseal trabecularization, Joint dislocation, Abnormal form of the vertebral bodies, O...	ORPHA:93160
Intellectual Developmental Disorder, Autosomal Recessive 13	Wide nasal bridge, Slender finger, Downturned corners of mouth, Cleft upper lip, Bruxism, Recurre...	OMIM:613192
Severe Hemophilia A	Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Subdural hemor...	ORPHA:169802
Craniosynostosis 2	Cleft soft palate, Triphalangeal thumb, Supernumerary tooth, Brachydactyly	OMIM:604757
German Syndrome	Wide nasal bridge, Depressed nasal bridge, Limitation of joint mobility, Camptodactyly of finger,...	ORPHA:2077
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Hypoplasia of the maxilla, Clinodactyly of the 5th finger, Anteverted nares, Microretrognathia	ORPHA:228396
Mandibuloacral Dysplasia With Type B Lipodystrophy	Abnormal fingertip morphology, Short distal phalanx of finger, Insulin resistance, Generalized li...	ORPHA:90154
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Unilateral radial aplasia, Eruption failure, Seizure, Failure to thrive, Kyphosis, Micrognathia, ...	ORPHA:476126
Hb Bart'S Hydrops Fetalis	Congestive heart failure, Pallor, Abnormal hemoglobin, Splenomegaly, Hydrocephalus, Anemia, Peric...	ORPHA:163596
Fg Syndrome Type 1	Broad-based gait, Finger syndactyly, Clinodactyly of the 2nd finger, Slender build, Micrognathia,...	ORPHA:93932
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	2-3 toe cutaneous syndactyly, Depression, Short attention span, Thin upper lip vermilion, Aggress...	OMIM:620242
Peters-Plus Syndrome	Square pelvis bone, Micrognathia, Ventricular septal defect, Decreased body weight, Limited elbow...	OMIM:261540
Omenn Syndrome	Failure to thrive, Lymphoma, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatome...	ORPHA:39041
Fatty Acyl-Coa Reductase 1 Deficiency	Inability to walk, Depressed nasal bridge, Seizure, Short nose	ORPHA:438178
Wolman Disease	Ascites, Splenomegaly, Hepatomegaly, Cachexia, Anemia, Bone-marrow foam cells, Growth delay	ORPHA:75233
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Short stature, Splenomegaly	ORPHA:417
2Q31.1 Microdeletion Syndrome	Toe syndactyly, Finger syndactyly, Abnormal tibia morphology, Micrognathia, Ventricular septal de...	ORPHA:251014
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Abnormal vertebral morphology, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing...	ORPHA:93315
Chime Syndrome	Depressed nasal ridge, Aplasia/Hypoplasia of the phalanges of the toes, Clubbing of toes, Aplasti...	ORPHA:3474
Frontonasal Dysplasia 2	Wide nasal bridge, Depressed nasal ridge, Bifid nasal tip, Depressed nasal bridge, Broad columell...	OMIM:613451
Cerebral Amyloid Angiopathy, Cst3-Related	Stroke, Intracranial hemorrhage, Cerebral hemorrhage	OMIM:105150
Rubinstein-Taybi Syndrome	Wide nasal bridge, Atypical scarring of skin, Carious teeth, Keloids, Broad thumb, Seizure, Finge...	ORPHA:783
Ataxia-Telangiectasia	Aplasia/Hypoplasia of the thymus, Failure to thrive, Lymphopenia, Neoplasm, Delayed puberty, Shor...	ORPHA:100
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Reversible Cerebral Vasoconstriction Syndrome	Vasospasm, Abnormal bleeding, Subdural hemorrhage, Dilatation of the cerebral artery, Transient i...	ORPHA:284388
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hemophagocytosis, Hepatitis, Pancytopenia, Splenomegaly, Hepatomegaly	OMIM:300635
Sheldon-Hall Syndrome	Wide nasal bridge, Ulnar deviation of finger, Aplasia/Hypoplasia of the radius, Joint stiffness, ...	ORPHA:1147
Pancreatic Agenesis 2	Exocrine pancreatic insufficiency, Diabetes mellitus, Pancreatic hypoplasia, Pancreatic aplasia	OMIM:615935
Developmental And Epileptic Encephalopathy 64	Self-injurious behavior, Depressed nasal bridge, Broad nasal tip, Long philtrum, Thick lower lip ...	OMIM:618004
Rhiny	Anteverted nares, Inguinal hernia, Short nose	OMIM:180360
Lipodystrophy, Congenital Generalized, Type 1	Cardiomyopathy, Umbilical hernia, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Cystic a...	OMIM:608594
Cerebrooculofacioskeletal Syndrome 1	Insulin resistance, Cryptorchidism	OMIM:214150
Galactosemia Iii	Hepatomegaly, Jaundice, Splenomegaly, Failure to thrive	OMIM:230350
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Wide nasal bridge, Clubbing of toes, Tetralogy of Fallot, Micrognathia, Cyanosis, Single transver...	ORPHA:3304
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Short 5th finger, Postaxial oligodactyly, Malar flattening, Talipes equinovarus, Atrial septal de...	ORPHA:52056
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Joint contracture of the hand, Small hand, Hypoplastic iliac wing, Cutaneous finger syndactyly, B...	OMIM:235510
Autism, Susceptibility To, X-Linked 2	Restrictive behavior, Motor stereotypy, Inflexible adherence to routines	OMIM:300495
Familial Median Cleft Of The Upper And Lower Lips	Abnormal maxilla morphology, Abnormal mandible morphology	ORPHA:401942
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Clinodactyly of the 2nd finger, Micrognathia, Ventricular septal defect, Atrial septal defect, Di...	OMIM:620663
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Cranio-Osteoarthropathy	Clubbing of toes, Deviation of finger, Abnormal tibia morphology, Joint stiffness, Abnormal corti...	ORPHA:1525
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Lymphadenitis, Failure to thrive, Lymphopenia, Hepatosplenomegaly, Decreas...	ORPHA:331206
Proprotein Convertase 1/3 Deficiency	Elevated circulating proinsulin concentration, Reactive hypoglycemia, Hypogonadotropic hypogonadi...	OMIM:600955
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent tonsillitis, Granuloma, Lymphadenitis, Lymphopenia, Hepatosplenomeg...	OMIM:618935
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Transient ischemic attack, Arterial stenosis, Ischemic stroke, Cerebral ischemia, Stroke, Cerebra...	ORPHA:136
Immunodeficiency 44	Lymphopenia	OMIM:616636
Nijmegen Breakage Syndrome	Acute leukemia, Glioma, Lymphoma, Neoplasm, Autoimmune hemolytic anemia, B-cell lymphoma, Cachexi...	ORPHA:647
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice	OMIM:224100
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Interphalangeal thumb joint contracture, Bulbous nose, Prominent nasal bridge, Ventricular septal...	OMIM:613870
Factor Xiii, A Subunit, Deficiency Of	Gingival bleeding, Epistaxis, Abnormal bleeding, Bruising susceptibility, Spontaneous hematomas, ...	OMIM:613225
Contractural Arachnodactyly, Congenital	Micrognathia, Mitral valve prolapse, Ventricular septal defect, Hip contracture, Bicuspid aortic ...	OMIM:121050
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Wide nasal bridge, Failure to thrive, Bulbous nose, Intrauterine growth retardation, Micrognathia...	ORPHA:261304
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Depressed nasal bridge, Ankle flexion contracture, Natal tooth, Seizure, Inability to walk, Small...	OMIM:617802
Immunodeficiency, Common Variable, 8, With Autoimmunity	Failure to thrive, Lymphoma, Pancytopenia, Splenomegaly, Autoimmune hemolytic anemia, Generalized...	OMIM:614700
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Insulin resistance, Hypoglycemia, Hypogonadism	ORPHA:73272
Pontocerebellar Hypoplasia, Type 2E	Myoclonic seizure, Failure to thrive, Micrognathia, Infantile spasms, Myoclonus, Bilateral tonic-...	OMIM:615851
Surfactant Metabolism Dysfunction, Pulmonary, 3	Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv...	OMIM:610921
Bifid Uvula	Bifid uvula, Cleft lip, Submucous cleft soft palate	ORPHA:99771
Ritscher-Schinzel Syndrome 1	Aortic valve stenosis, Depressed nasal bridge, Hypoplastic left heart, Tetralogy of Fallot, Decre...	OMIM:220210
Bardet-Biedl Syndrome 19	Hypoplastic left heart, Postaxial foot polydactyly, Hypogonadism, Mesoaxial hand polydactyly, Obe...	OMIM:615996
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Aplasia/hypoplasia involving bones of the extremities, Abnormal vertebral morphology, Platyspondy...	ORPHA:93346
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Depressed nasal bridge, Broad-based gait, Broad columella, Downturned corners of mouth, Widely sp...	OMIM:617865
Oculoskeletodental Syndrome	Wide nasal bridge, Depressed nasal bridge, Short 5th finger, Broad columella, Retrognathia, Clino...	ORPHA:557003
Lethal Congenital Contracture Syndrome 11	Pulmonary hypoplasia	OMIM:617194
Infantile Sialic Acid Storage Disease	Failure to thrive, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes	OMIM:269920
Diaphanospondylodysostosis	Depressed nasal bridge, Depressed nasal ridge, Unossified sacrum, Tracheomalacia, Intrauterine gr...	OMIM:608022
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Mild postnatal growth retardation, Re...	OMIM:224120
Fetal And Neonatal Alloimmune Thrombocytopenia	Gastrointestinal hemorrhage, Neonatal alloimmune thrombocytopenia, Abnormal bleeding, Spontaneous...	ORPHA:853
Early-Onset Autosomal Dominant Alzheimer Disease	Memory impairment, Confusion, Disinhibition, Ataxia, Dementia, Semantic dementia, Abnormal social...	ORPHA:1020
Babesiosis	Leukopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, Jaundice, Hemolytic anemia	ORPHA:108
X-Linked Intellectual Disability, Najm Type	Wide nasal bridge, Failure to thrive, Seizure, Micrognathia, Gait disturbance, Scoliosis	ORPHA:163937
Van Der Woude Syndrome 1	Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate	OMIM:119300
Brain Small Vessel Disease 2	Intracranial hemorrhage, Growth delay	OMIM:614483
Filippi Syndrome	Wide nasal bridge, Limitation of joint mobility, Broad columella, Underdeveloped nasal alae, Seiz...	ORPHA:3255
Spondylodysplastic Ehlers-Danlos Syndrome	Aortic valve stenosis, Abnormal vertebral morphology, Subluxation of the small joints of the hand...	ORPHA:536471
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Acute leukemia, Lymphoma, Microcytic anemia, Lymphopenia, Neoplas...	ORPHA:906
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Wide nasal bridge, Depressed nasal bridge, Finger syndactyly, Aplasia of the proximal phalanges o...	ORPHA:2256
Megalencephaly	Wide nasal bridge, Genu valgum, Short neck, Atrial septal defect, Abnormality of the fontanelles ...	ORPHA:2477
Familial Cerebral Saccular Aneurysm	Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T...	ORPHA:231160
Idiopathic Hypereosinophilic Syndrome	Portal fibrosis, Failure to thrive, Cervical lymphadenopathy, Hepatosplenomegaly, Thrombocytosis,...	ORPHA:3260
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
C1Q Deficiency 2	Recurrent lower respiratory tract infections, Atelectasis, Bronchiectasis, Oral ulcer	OMIM:620321
Burn-Mckeown Syndrome	Choanal atresia, Bilateral choanal atresia, Underdeveloped nasal alae, Bilateral choanal atresia/...	OMIM:608572
Robinow Syndrome, Autosomal Recessive 2	Wide nasal bridge, Mesomelia, Broad nasal tip, Broad thumb, Clinodactyly, Prominent fingertip pad...	OMIM:618529
Emanuel Syndrome	Broad jaw, Aortic valve stenosis, Congenital hip dislocation, Failure to thrive, Seizure, Sacral ...	OMIM:609029
Christian Syndrome	Wide nasal bridge, Thoracic hemivertebrae, Glucose intolerance, Prominent metopic ridge, Scoliosi...	OMIM:309620
Abetal34V Amyloidosis	Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage	ORPHA:324703
Bardet-Biedl Syndrome 2	Dilated cardiomyopathy, Postaxial foot polydactyly, Hypogonadism, Obesity, Bicuspid aortic valve,...	OMIM:615981
Intellectual Developmental Disorder, Autosomal Dominant 52	Depressed nasal bridge, Pectus carinatum, Downturned corners of mouth, Prominent nose, Anteverted...	OMIM:617796
Disabling Pansclerotic Morphea Of Childhood	Lymphopenia, Squamous cell carcinoma of the skin, Neutropenia	OMIM:620443
8Q24.3 Microdeletion Syndrome	Short hallux, Tics, Cleft maxillary alveolar ridge, Dysphagia, Short 5th finger, Broad nasal tip,...	ORPHA:508488
Mosaic Trisomy 1	Hand clenching, Toe syndactyly, Broad 2nd toe, Congenital diaphragmatic hernia, Ventricular septa...	ORPHA:1692
Intellectual Developmental Disorder, Autosomal Recessive 70	Wide nasal bridge, Retrognathia, Seizure, Febrile seizure (within the age range of 3 months to 6 ...	OMIM:618402
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed epiphyseal ossification, Subperiosteal bone resorption, Growth delay, Bulging epiphyses, ...	OMIM:264700
Multiple Pterygium Syndrome, X-Linked	Thin ribs, Joint dislocation, Short finger, Intrauterine growth retardation, Increased susceptibi...	OMIM:312150
Down Syndrome	Polycythemia, Obesity, Acute megakaryocytic leukemia, Abnormality of the lymphatic system, Delaye...	ORPHA:870
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hemophagocytosis, Pancytopenia, Splenomegaly, Anemia, Subcutaneous panniculitis-like T-cell lymphoma	OMIM:618398
Tarp Syndrome	Broad-based gait, Finger syndactyly, Clinodactyly, Micrognathia, Large fontanelles, Talipes equin...	ORPHA:2886
Braddock-Carey Syndrome 1	Wide nasal bridge, Small hand, Clinodactyly, Anteverted nares, Aortic valve prolapse, Ventricular...	OMIM:619980
Brachyolmia Type 3	Platyspondyly, Radial deviation of finger, Clinodactyly, Proximal femoral metaphyseal irregularit...	OMIM:113500
Man1B1-Cdg	Wide nasal bridge, Broad-based gait, Seizure, Prominent nose, Underdeveloped nasolabial fold, Mal...	ORPHA:397941
Aicardi Syndrome	Precocious puberty, Block vertebrae, Seizure, Epileptic spasm, Anteverted nares, Infantile spasms...	OMIM:304050
Immunodeficiency 26 With Or Without Neurologic Abnormalities	Intrauterine growth retardation, T lymphocytopenia, Abnormal natural killer cell morphology, B ly...	OMIM:615966
Chromosome 14Q11-Q22 Deletion Syndrome	Wide nasal bridge, Depressed nasal bridge, Mesomelia, Failure to thrive, Seizure, Elevated circul...	OMIM:613457
Miller-Dieker Lissencephaly Syndrome	Wide nasal bridge, Joint contracture of the hand, Delayed eruption of teeth, Seizure, Failure to ...	OMIM:247200
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Hypertrophic cardiomyopathy, Sideroblastic anemia, Growth delay, Pallor	OMIM:613561
Multiple Acyl-Coa Dehydrogenase Deficiency	Depressed nasal bridge, Glycosuria, Hypoglycemia, Neonatal death, Wide anterior fontanel	OMIM:231680
Hemochromatosis, Type 2B	Hepatic fibrosis, Splenomegaly, Hepatomegaly, Cirrhosis, Anemia	OMIM:613313
Acalvaria	Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Opsismodysplasia	Severe short stature, Narrow chest, Broad thumb, Abnormal epiphysis morphology, Joint stiffness, ...	ORPHA:2746
Noonan Syndrome 12	Lymphopenia, Glabellar hemangioma, Thrombocytopenia	OMIM:618624
Shashi-Pena Syndrome	Broad nasal tip, Kyphosis, Retrognathia, Seizure, Febrile seizure (within the age range of 3 mont...	OMIM:617190
Tropical Pancreatitis	Insulin-dependent but ketosis-resistant diabetes, Pancreatic adenocarcinoma, Chronic calcifying p...	ORPHA:103918
Adams-Oliver Syndrome 4	Aplasia of the distal phalanges of the toes, Short toe, Umbilical hernia, Aplasia of the middle p...	OMIM:615297
Brachydactyly-Preaxial Hallux Varus Syndrome	Wide nasal bridge, Broad thumb, Preaxial hand polydactyly, Radial club hand, Micrognathia, Brachy...	ORPHA:1278
Lethal Congenital Contracture Syndrome 1	Pulmonary hypoplasia, Neonatal death	OMIM:253310
Opitz Gbbb Syndrome	Wide nasal bridge, Umbilical hernia, Anteverted nares, Inguinal hernia, Ventricular septal defect...	OMIM:300000
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Depressed nasal bridge, Failure to thrive, Delayed cranial suture closure, Hypopituitarism, Decre...	OMIM:613038
Charlie M Syndrome	Wide nasal bridge, Finger syndactyly, Micrognathia, Triphalangeal thumb, Abnormal metacarpal morp...	ORPHA:1406
Contractures-Developmental Delay-Pierre Robin Syndrome	Abnormality of frontal sinus, Short thumb, Underdeveloped nasal alae, Overlapping toe, Micrognath...	ORPHA:436003
Cerebral Cavernous Malformations 2	Telangiectasia, Cerebral cavernous malformation, Stroke, Cerebral hemorrhage	OMIM:603284
Pycnodysostosis	Aplastic clavicle, Spondylolysis, Persistent open anterior fontanelle, Spondylolisthesis, Wormian...	OMIM:265800
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Wide nasal bridge, Aortic valve stenosis, Atypical scarring of skin, Osteopenia, Atrophic scars, ...	ORPHA:75496
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Wide nasal bridge, Microretrognathia, Seizure, Difficulty walking, Bulbous nose, Inability to wal...	OMIM:618571
Hennekam Syndrome	Wide nasal bridge, Depressed nasal bridge, Narrow chest, Abnormal oral mucosa morphology, Delayed...	ORPHA:2136
Three M Syndrome 2	Thin ribs, Short 5th finger, Severe short stature, Pectus carinatum, Slender long bone, Clinodact...	OMIM:612921
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Inability to walk, Recurrent hand flapping, Gait ataxia, Short attention span, Emotional lability...	OMIM:619580
Pituitary Hormone Deficiency, Combined, 6	Ectopic posterior pituitary, Hypoglycemia, Decreased circulating ACTH concentration, Posterior pi...	OMIM:613986
Kyphomelic Dysplasia	Limitation of joint mobility, Radial bowing, Talipes equinovarus, Anterior rib cupping, Flat acet...	OMIM:211350
Autoimmune Lymphoproliferative Syndrome, Type Iia	Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype...	OMIM:603909
Okur-Chung Neurodevelopmental Syndrome	Wide nasal bridge, Decreased circulating IgG level, Atonic seizure, Failure to thrive, Umbilical ...	OMIM:617062
Becker Nevus Syndrome	Pectus excavatum, Scoliosis, Hemivertebrae, Cervical ribs	OMIM:604919
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Acromesomelic Dysplasia 4	Radial bowing, Prominent deltoid tuberosities, Genu valgum, Beaking of vertebral bodies, Broad to...	OMIM:619636
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Abnormality of the dentition, Prominent nose, Irritability, 2-3 toe syndactyly, Aggressive behavi...	ORPHA:391307
Mosaic Variegated Aneuploidy Syndrome 2	Depressed nasal bridge, Rhizomelia, Clinodactyly, Decreased response to growth hormone stimulatio...	OMIM:614114
48,Xxxy Syndrome	Depressed nasal ridge, Hip dislocation, Carious teeth, Abnormal epiphysis morphology, Delayed eru...	ORPHA:96263
Microcephalic Primordial Dwarfism, Toriello Type	Severe short stature, Abnormal epiphysis morphology, Intrauterine growth retardation, Brachydacty...	ORPHA:2643
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Atlantoaxial dislocation, Carious teeth, Dysplasia of the femoral head, Micrognathia, Mitral valv...	ORPHA:536467
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Intrauterine growth retardation, Postnatal growth retar...	OMIM:617827
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Broad-based gait, Broad thumb, Small hand, Micrognathia, Ventricular septal defect, Talipes equin...	ORPHA:251028
Ring Chromosome 10 Syndrome	Wide nasal bridge, Sandal gap, Seizure, Intrauterine growth retardation, Micrognathia, Cachexia, ...	ORPHA:1438
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Failure ...	ORPHA:276
Congenital Disorder Of Glycosylation, Type Iig	Small hand, Shallow acetabular fossae, Micrognathia, Talipes equinovarus, Short neck, Short foot,...	OMIM:611209
Li-Ghorbani-Weisz-Hubshman Syndrome	Depressed nasal bridge, Seizure, Overlapping toe, Prominent nasal bridge, Ventricular septal defe...	OMIM:618974
Mirage Syndrome	Lymphopenia, Intrauterine growth retardation, Leukopenia, Petechiae, Anemia, Hydrocephalus, Throm...	OMIM:617053
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Joint hypermobility, Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morp...	OMIM:602196
Acro-Renal-Mandibular Syndrome	Thin ribs, Pectus carinatum, Hypoplastic scapulae, Kyphosis, Finger syndactyly, Rudimentary fibul...	ORPHA:958
Moderate Hemophilia A	Gingival bleeding, Gastrointestinal hemorrhage, Abnormal bleeding, Subdural hemorrhage, Spontaneo...	ORPHA:169805
Anemia, Hypochromic Microcytic, With Iron Overload 2	Sideroblastic anemia, Pallor, Splenomegaly, Hypochromia, Poikilocytosis, Anemia, Decreased mean c...	OMIM:615234
8P Inverted Duplication/Deletion Syndrome	Wide nasal bridge, Precocious puberty, Small hypothenar eminence, Retrognathia, Contractures of t...	ORPHA:96092
Ventricular Septal Defect 2	Perimembranous ventricular septal defect	OMIM:614431
Rapp-Hodgkin Syndrome	2-3 toe cutaneous syndactyly, Depressed nasal bridge, Hypoplasia of the maxilla, Carious teeth, P...	OMIM:129400
Pancreatitis, Hereditary	Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Diabetes mellitus, Pan...	OMIM:167800
Sarcoidosis, Susceptibility To, 2	Emphysema, Pleural effusion, Pneumothorax, Abnormal pulmonary interstitial morphology, Pulmonary ...	OMIM:612387
Beta-Thalassemia	Skin ulcer, Microcytic anemia, Pallor, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia	ORPHA:848
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Absent circulating B cells, Decreased proportion of class-switched memory B cells, Neutropenia, B...	OMIM:619705
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Irritability, Aggressive behavi...	ORPHA:3077
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Lymphopenia, Hemolytic anemia, Thrombocytopenia	OMIM:616744
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Short stature, Pallor	ORPHA:2786
Focal Facial Dermal Dysplasia Type Iv	Intracranial hemorrhage, Hydrocephalus, Abnormal mast cell morphology	ORPHA:398189
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Wide nasal bridge, Seizure, Congenital hypothyroidism, Obesity, Clinodactyly of the 5th finger, G...	ORPHA:352530
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Bifid uvula, Downturned corners of mouth, Long philtrum, Proximal placement of thumb, Dysmetria, ...	OMIM:619121
Hamel Cerebro-Palato-Cardiac Syndrome	Wide nasal bridge, Bulbous nose, Micrognathia, Malar flattening, Arachnodactyly, Atrial septal de...	ORPHA:93946
Intellectual Disability, Buenos-Aires Type	Wide nasal bridge, Abnormal pelvic girdle bone morphology, Cuboid-shaped thoracolumbar vertebral ...	ORPHA:3079
Microgastria-Limb Reduction Defect Syndrome	Aplastic clavicle, Elbow dislocation, Failure to thrive, Short thumb, Oligodactyly, Ectrodactyly,...	ORPHA:2538
Tyrosinemia Type 1	Hepatomegaly, Splenomegaly, Hepatocellular carcinoma	ORPHA:882
Pallister-Hall-Like Syndrome	Microglossia, Death in infancy, Median cleft upper lip, Cleft palate, Pulmonary hypoplasia	OMIM:241800
Saethre-Chotzen Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Hypoplasia of the maxilla, Partial duplica...	OMIM:101400
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Enlarged metaphyses, Micrognathia, Genu valgum, Congenital diaphragmatic hernia, Mitral valve pro...	OMIM:245600
Burn-Mckeown Syndrome	Wide nasal bridge, Bilateral choanal atresia, Prominent nasal bridge, Abnormal cardiac septum mor...	ORPHA:1200
Holoprosencephaly 9	Depressed nasal bridge, Choanal atresia, Broad nasal tip, Hypoplasia of the premaxilla, Hypoplasi...	OMIM:610829
Cholestasis, Progressive Familial Intrahepatic, 10	Portal fibrosis, Failure to thrive, Splenomegaly, Acholic stools, Hepatomegaly, Jaundice, Short s...	OMIM:619868
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Abnormal form of the vertebral bodies, Joint hypermobility, Arachnodactyly, Missing ribs, Hemiver...	ORPHA:2759
Congenital Disorder Of Glycosylation, Type Id	Wide nasal bridge, Depressed nasal bridge, Joint contracture of the hand, Failure to thrive, Seiz...	OMIM:601110
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Depressed nasal bridge, Failure to thrive, Intrauterine growth retardation, Micrognathia, Acetabu...	OMIM:619833
Clark-Baraitser Syndrome	Depressed nasal bridge, Clinodactyly, Seizure, Sandal gap, Anteverted nares, Obesity, Low hanging...	OMIM:617752
Hereditary Chronic Pancreatitis	Pancreatic calcification, Jaundice, Recurrent pancreatitis, Diabetes mellitus	ORPHA:676
Long Qt Syndrome 16	Perimembranous ventricular septal defect	OMIM:618782
Atelis Syndrome 1	Carious teeth, Prominent nose, Ventricular septal defect, Attention deficit hyperactivity disorde...	OMIM:620184
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, Neoplasm...	ORPHA:100026
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Prominent fingertip pads, Seizure, Inability to walk, Bulbous nose, Abnormal heart morphology, Ov...	OMIM:618494
Megalocornea-Intellectual Disability Syndrome	Wide nasal bridge, Osteopenia, Kyphosis, Seizure, Micrognathia, Metatarsus valgus, Joint hypermob...	ORPHA:2479
Fumarase Deficiency	Depressed nasal bridge, Failure to thrive, Anteverted nares, Reduced subcutaneous adipose tissue,...	OMIM:606812
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Depressed nasal bridge, Anteverted nares, Malar flattening, Thick vermilion border, Thin vermilio...	ORPHA:86818
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased proportion of memory B cells, B lymphocytopenia	ORPHA:70593
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hepatomegaly, Cirrhosis, H...	OMIM:616860
Opsismodysplasia	Hypoplasia of the odontoid process, Bell-shaped thorax, Large fontanelles, Short neck, Anterior r...	OMIM:258480
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Thin ribs, Platyspondyly, Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of the calc...	ORPHA:163966
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Wide nasal bridge, Conical tooth, Underdeveloped nasal alae, Widely spaced teeth, Prominent nose,...	ORPHA:90024
Treacher-Collins Syndrome	Wide nasal bridge, Choanal atresia, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, ...	ORPHA:861
Fetal Alcohol Syndrome	Anteverted nares, Micrognathia, Intrauterine growth retardation, Congenital diaphragmatic hernia,...	ORPHA:1915
Cutis Laxa-Marfanoid Syndrome	Emphysema	ORPHA:171719
Tracheobronchopathia Osteochondroplastica	Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Esophagitis, Recurrent respiratory infec...	ORPHA:3348
White-Sutton Syndrome	Broad thumb, Hypoplastic cervical vertebrae, Micrognathia, Congenital diaphragmatic hernia, Short...	OMIM:616364
Primary Lateral Sclerosis, Juvenile	Abnormal upper motor neuron morphology, Pallor	OMIM:606353
Coffin-Siris Syndrome 5	Depressed nasal bridge, Short distal phalanx of finger, Sandal gap, Seizure, Thick nasal alae, In...	OMIM:616938
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Carious teeth, Hypertrophic cardiomyopathy, Anteverted nares, Pulmonic stenosis, Brachydactyly, A...	ORPHA:2701
Intellectual Developmental Disorder, Autosomal Dominant 56	Broad-based gait, Long philtrum, Inability to walk, Short attention span, Open mouth, Reduced soc...	OMIM:617854
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Lambdoidal craniosynostosis, Depressed nasal bridge, Osteopenia, Restrictive cardiomyopathy, Myoc...	OMIM:615398
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Talipes equinovarus, Hypopla...	OMIM:271640
Multiple Synostoses Syndrome 1	Hypoplastic nasal septum, Carpal synostosis, Cutaneous finger syndactyly, Proximal/middle symphal...	OMIM:186500
Tropical Calcific Pancreatitis	Pancreatic calcification, Insulin-dependent but ketosis-resistant diabetes, Chronic pancreatitis,...	OMIM:608189
Joubert Syndrome 14	Encephalocele, Hypertension, Hydrocephalus, Meningocele, Intracranial hemorrhage, Growth delay	OMIM:614424
Ankyloglossia With Or Without Tooth Anomalies	Ankyloglossia, Supernumerary tooth	OMIM:106280
Lymphangiectasia, Intestinal	Lymphopenia, Intestinal lymphangiectasia	OMIM:152800
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Lymphopenia, Squamous cell carcinoma of the skin, Portal hypertension, Thrombocytopenia, Anemia, ...	OMIM:620365
Intellectual Developmental Disorder, Autosomal Dominant 43	Wide nasal bridge, Failure to thrive, Seizure, Umbilical hernia, Anteverted nares, Prominent nasa...	OMIM:616977
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P...	OMIM:619767
Angelman Syndrome Due To A Point Mutation	Mandibular prognathia, Broad-based gait, Widely spaced teeth, Inappropriate laughter, Abnormal ea...	ORPHA:411511
Vitamin K Antagonist Embryofetopathy	Depressed nasal bridge, Choanal atresia, Short distal phalanx of finger, Seizure, Anteverted nare...	ORPHA:1914
Sillence Syndrome	Abnormal vertebral morphology, Broad thumb, Intervertebral disk degeneration, Flat acetabular roo...	ORPHA:3168
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Postnatal growth retardation, Hypoplastic inferior ilia, Short metacarpal, Ovoid vertebral bodies...	OMIM:608940
Peroxisome Biogenesis Disorder 6A (Zellweger)	Wide nasal bridge, Epiphyseal stippling, Seizure, Neonatal death	OMIM:614870
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities	Wide nasal bridge, Retrognathia, Seizure, Joint hypermobility, Mandibular prognathia	OMIM:619595
Immunodeficiency 92	Thrombocytosis, Leukocytosis, Sclerosing cholangitis, Lymphocytosis, Decreased proportion of clas...	OMIM:619652
20Q11.2 Microduplication Syndrome	Wide nasal bridge, Depressed nasal bridge, Retrognathia, Seizure, Sacral dimple, Anteverted nares...	ORPHA:363659
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega...	ORPHA:98848
Even-Plus Syndrome	Epiphyseal dysplasia, Bifid nasal tip, Depressed nasal ridge, Dysplasia of the femoral head, Pate...	OMIM:616854
Pyruvate Dehydrogenase E1-Alpha Deficiency	Flared nostrils, Wide nasal bridge, Small for gestational age, Seizure, Episodic ataxia, Antevert...	OMIM:312170
Ring Chromosome 8 Syndrome	Anteverted nares, Deviation of finger, Short nose	ORPHA:1450
Thanatophoric Dysplasia	Platyspondyly, Depressed nasal bridge, Abnormal ilium morphology, Micromelia, Seizure, Joint stif...	ORPHA:2655
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hypoplasia of the premaxilla, Umbilical hernia, Micrognathia, Absent nares, Adrenal hypoplasia, A...	ORPHA:2166
Congenital Diaphragmatic Hernia	Intestinal malrotation, Pulmonary hypoplasia	ORPHA:2140
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Splenomegaly, Hepatomegaly, Jaundice, Short stature	OMIM:620010
Multiple Pterygium Syndrome, Lethal Type	Thin ribs, Joint dislocation, Short finger, Intrauterine growth retardation, Increased susceptibi...	OMIM:253290
Niemann-Pick Disease, Type A	Failure to thrive, Sea-blue histiocytosis, Microcytic anemia, Ascites, Splenomegaly, Hepatomegaly...	OMIM:257200
Hypophosphatasia, Infantile	Platyspondyly, Unossified vertebral bodies, Metaphyseal cupping, Rachitic rosary, Widely patent f...	OMIM:241500
Craniofacial-Deafness-Hand Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, Ulnar deviatio...	OMIM:122880
Anemia, Sideroblastic, 1	Sideroblastic anemia, Anemia of inadequate production, Macrocytic anemia, Anemic pallor, Hypochro...	OMIM:300751
Allergic Bronchopulmonary Aspergillosis	Emphysema, Bronchiectasis	ORPHA:1164
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Wide nasal bridge, Depressed nasal bridge, Retrognathia, Seizure, Prominent fingertip pads, Bulbo...	OMIM:620098
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Retinoblastoma	Pinealoma, Lymphoma, Ewing sarcoma, Retinoblastoma, Leukemia, Osteosarcoma	OMIM:180200
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Abnormal hand morphology, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve...	ORPHA:371428
Tetramelic Monodactyly	Oligodactyly, Split hand	ORPHA:2564
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Self-injurious behavior, Inability to walk, Chorea, Gait ataxia, Stereotypical hand wringing, Com...	OMIM:618917
17P13.3 Microduplication Syndrome	Congenital hip dislocation, Inguinal hernia, Short neck, Clinodactyly of the 5th finger, Short no...	ORPHA:217385
5Q14.3 Microdeletion Syndrome	Toe syndactyly, Anteverted nares, Open mouth, Short philtrum, Motor stereotypy, Short nose	ORPHA:228384
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Lymphoma, Neoplasm, Splenomegaly, Weight loss, Lymphadenopathy, Hepa...	ORPHA:391
Dopamine Beta-Hydroxylase Deficiency	Insulin resistance, Hyperinsulinemia, Hypoglycemia	ORPHA:230
Cat-Eye Syndrome	Short stature, Intrauterine growth retardation, Hip dysplasia, Abnormal rib morphology	ORPHA:195
Baraitser-Winter Syndrome 1	Wide nasal bridge, Aortic valve stenosis, Retrognathia, Seizure, Failure to thrive, Anteverted na...	OMIM:243310
Al-Gazali-Bakalinova Syndrome	Wide nasal bridge, Depressed nasal bridge, Epiphyseal dysplasia, Clinodactyly, Genu valgum, Ingui...	OMIM:607131
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies	Clinodactyly, Symphalangism of the thumb, Short toe, Bulbous nose, Depressed nasal tip, Attention...	OMIM:620494
Coffin-Siris Syndrome 11	Bifid uvula, Downturned corners of mouth, Cleft soft palate, Esophageal atresia, High palate, Wid...	OMIM:618779
Osteopathia Striata-Cranial Sclerosis Syndrome	Wide nasal bridge, Aortic valve stenosis, High iliac wing, Coarse metaphyseal trabecularization, ...	ORPHA:2780
Meier-Gorlin Syndrome 4	Hypoplasia of the maxilla, Failure to thrive, Slender long bone, Intrauterine growth retardation,...	OMIM:613804
Tbck-Related Intellectual Disability Syndrome	Clinodactyly, Central adrenal insufficiency, Ventricular septal defect, Short neck, Cognitive imp...	ORPHA:488632
Atelosteogenesis, Type Ii	Pulmonary hypoplasia, Cleft palate, Death in infancy, Stillbirth	OMIM:256050
Zechi-Ceide Syndrome	Wide nasal bridge, Short distal phalanx of finger, Sandal gap, Abnormal heart morphology, Atrial ...	ORPHA:217017
Distal Deletion 10P	Wide nasal bridge, Joint stiffness, Intrauterine growth retardation, Micrognathia, Bilateral sing...	ORPHA:1580
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Depressed nasal bridge, Lumbar platyspondyly, Coarse metaphyseal trabecularization, Thoracic plat...	OMIM:618961
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe...	ORPHA:93322
2P15P16.1 Microdeletion Syndrome	Wide nasal bridge, Toe clinodactyly, Retrognathia, Failure to thrive, Camptodactyly of finger, Hy...	ORPHA:261349
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Underdeveloped nasal alae, Failure to thrive, Intrauterine growth reta...	ORPHA:2315
Singleton-Merten Syndrome 1	Aortic valve stenosis, Aortic valve calcification, Carious teeth, Shallow acetabular fossae, Hypo...	OMIM:182250
Familial Cold Autoinflammatory Syndrome 2	Leukocytosis, Splenomegaly, Lymphadenopathy	OMIM:611762
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Thin ribs, Slender long bone, Decreased calvarial ossification, Brachydactyly, Short stature, Cra...	OMIM:618265
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Broad nasal tip, Inability to walk, Bulbous nose, Anteverted nares, Prominent nasal bridge, Evert...	ORPHA:411986
Stuve-Wiedemann Syndrome 1	Wide nasal base, Carious teeth, Short tibia, Micrognathia, Metaphyseal rarefaction, Bowing of the...	OMIM:601559
Koolen-De Vries Syndrome	Wide nasal bridge, Kyphosis, Underdeveloped nasal alae, Seizure, Thick nasal alae, Bulbous nose, ...	ORPHA:96169
Infantile-Onset X-Linked Spinal Muscular Atrophy	Ankle flexion contracture, Interphalangeal joint contracture of finger, Elbow flexion contracture...	ORPHA:1145
Barber-Say Syndrome	Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Underdeveloped nasal a...	OMIM:209885
Mosaic Monosomy X	Hyperinsulinemia, Micrognathia, Type II diabetes mellitus, Genu valgum, Bicuspid aortic valve, Sh...	ORPHA:99228
Monosomy X	Hyperinsulinemia, Micrognathia, Type II diabetes mellitus, Genu valgum, Bicuspid aortic valve, Sh...	ORPHA:99226
Turner Syndrome	Hyperinsulinemia, Micrognathia, Type II diabetes mellitus, Genu valgum, Bicuspid aortic valve, Sh...	ORPHA:881
Turner Syndrome Due To Structural X Chromosome Anomalies	Hyperinsulinemia, Micrognathia, Type II diabetes mellitus, Genu valgum, Bicuspid aortic valve, Sh...	ORPHA:99413
Neural Tube Defects, Susceptibility To	Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus	OMIM:182940
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Hypoplasia of the maxilla, Ulnar deviation of finger, Camptodactyly of finger, Umbilical hernia, ...	ORPHA:1101
Sézary Syndrome	Neoplasm of the skin, Lymphoma, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy, He...	ORPHA:3162
Hajdu-Cheney Syndrome	Aortic valve stenosis, Micrognathia, Ventricular septal defect, Absent frontal sinuses, Hernia, D...	ORPHA:955
Branchioskeletogenital Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Carious teeth, Broad nasal tip, Seizure, Umbil...	ORPHA:1299
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Osteopenia, Dental malocclusion, Contractures of the large joints, Failure to thrive, Micrognathi...	ORPHA:329178
Temple-Baraitser Syndrome	Wide nasal bridge, Depressed nasal bridge, Short distal phalanx of finger, Broad thumb, Delayed e...	ORPHA:420561
Cartilage-Hair Hypoplasia	Small hand, Bowing of the long bones, Short neck, Diaphyseal undertubulation, Metaphyseal dysplas...	ORPHA:175
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice	ORPHA:79477
Lissencephaly 4	Wide nasal bridge, Seizure	OMIM:614019
Marshall-Smith Syndrome	Choanal atresia, Retrognathia, Failure to thrive, Slender long bone, Anteverted nares, Increased ...	ORPHA:561
Sneddon Syndrome	Arterial stenosis, Hypertension, Intracranial hemorrhage	ORPHA:820
Pyruvate Dehydrogenase Deficiency	Wide nasal bridge, Osteolytic defects of the middle phalanx of the 4th toe, Seizure, Intrauterine...	ORPHA:765
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Wide nasal bridge, Depressed nasal bridge, Angel-shaped phalanx, Carious teeth, Short distal phal...	OMIM:617102
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Craniofacial hyperostosis, Pectus carinatum, Limitation of joint mobility, Abnormal hip bone morp...	ORPHA:3068
Myotubular Myopathy With Abnormal Genital Development	Atelectasis, High palate, Death in infancy, Neonatal death	OMIM:300219
Spastic Paraplegia 52, Autosomal Recessive	Wide nasal bridge, Febrile seizure (within the age range of 3 months to 6 years), Bulbous nose, P...	OMIM:614067
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Hepatitis, Failure to thrive secondary to recurrent infections, Lymphopenia, Hepatosplenomegaly, ...	ORPHA:169160
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Maxillozygomatic hypoplasia, Genu valgum, Malar flattening, Delayed eruption of teeth	ORPHA:2972
Acute Promyelocytic Leukemia	Acute promyelocytic leukemia	OMIM:612376
Kabuki Syndrome 2	Short 5th finger, Broad nasal tip, Natal tooth, Dental malocclusion, Seizure, Prominent fingertip...	OMIM:300867
Congenital Bile Acid Synthesis Defect Type 1	Failure to thrive, Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abnormality, C...	ORPHA:79301
Dandy-Walker Malformation With Postaxial Polydactyly	Wide nasal bridge, Aortic valve stenosis, Depressed nasal bridge, Microretrognathia, Postaxial ha...	OMIM:220220
Bronchogenic Cyst	Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal stomach morphology, Abnormal ...	ORPHA:2357
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Generalized non-motor (absence) seizure, Seizure, Long hallux, Anteverted nares, Obesity, Bilater...	OMIM:619854
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Wide nasal bridge, Retrognathia, Failure to thrive, Short toe, Micrognathia, Malar flattening, Ta...	ORPHA:98791
Cronkhite-Canada Syndrome	Gastrointestinal carcinoma, Stomach cancer, Intestinal polyposis, Splenomegaly, Neoplasm, Hepatom...	ORPHA:2930
Neurofibromatosis Type 1	Neoplasm of the skin, Multiple lipomas, Leukemia, Sarcoma, Plexiform neurofibroma, Astrocytoma, C...	ORPHA:636
Retinoblastoma	Pineoblastoma, Glioma, Lymphoma, Ewing sarcoma, Retinoblastoma, Melanoma, Leiomyosarcoma, Leukemi...	ORPHA:790
Agammaglobulinemia 9, Autosomal Recessive	Absent circulating B cells, Failure to thrive, Thrombocytopenia	OMIM:619693
Oculomaxillofacial Dysostosis	Wide nasal bridge, Abnormality of the nose, Underdeveloped nasal alae, Camptodactyly of finger, M...	ORPHA:1794
Legius Syndrome	Acute monocytic leukemia, Vestibular schwannoma, Nephroblastoma, Multiple lipomas, Non-small cell...	ORPHA:137605
Robinow Syndrome	Flared nostrils, Micrognathia, Marked delay in eruption of permanent teeth, Ventricular septal de...	ORPHA:97360
Acquired Von Willebrand Syndrome	Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,...	ORPHA:99147
Codas Syndrome	Hypoplasia of the odontoid process, Genu valgum, Ventricular septal defect, Lumbar scoliosis, Atr...	OMIM:600373
8Q12 Microduplication Syndrome	Wide nasal bridge, Ventricular septal defect, Attention deficit hyperactivity disorder, Atrial se...	ORPHA:228399
Linear Skin Defects With Multiple Congenital Anomalies 2	Ventricular hypertrophy, Sandal gap, Tetralogy of Fallot, Congenital diaphragmatic hernia, Atrial...	OMIM:300887
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Wide nasal bridge, Carious teeth, Myoclonic seizure, Multiple muscular ventricular septal defects...	OMIM:620070
Prader-Willi Syndrome Due To Translocation	Small hand, Carious teeth, Clinodactyly, Overlapping toe, Micrognathia, Everted lower lip vermili...	ORPHA:177907
Fanconi-Bickel Syndrome	Postprandial hyperglycemia, Hepatic failure, Glycosuria, Elevated circulating aspartate aminotran...	ORPHA:2088
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Platyspondyly, Depressed nasal bridge, Osteopenia, Proximal femoral epiphysiolysis, Short fourth ...	OMIM:616723
Aicardi Syndrome	Precocious puberty, Block vertebrae, Small hand, Infantile spasms, Butterfly vertebrae, Prominenc...	ORPHA:50
Frontometaphyseal Dysplasia	Joint contracture of the hand, Short distal phalanx of the thumb, Broad thumb, Micrognathia, Limi...	ORPHA:1826
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Splenomegaly	OMIM:619462
Pontocerebellar Hypoplasia Type 10	Wide nasal bridge, Seizure, Underdeveloped nasal alae	ORPHA:411493
Congenital Rubella Syndrome	Intrauterine growth retardation, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Jaundice, ...	ORPHA:290
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum	OMIM:140850
Magel2-Related Prader-Willi-Like Syndrome	Small hand, Absence of pubertal development, Type II diabetes mellitus, Increased body weight, At...	ORPHA:398069
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Bowing of the long bones, Short metacarpal, Ovoid vertebral bodies, Hypoplastic ...	ORPHA:85167
Emanuel Syndrome	Aortic valve stenosis, Broad jaw, Congenital hip dislocation, Delayed eruption of teeth, Seizure,...	ORPHA:96170
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Wide nasal base, Depressed nasal bridge, Broad-based gait, Wide nasal bridge, Clinodactyly, Seizu...	ORPHA:397709
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:158029
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Arachnodactyly, Atrial septal defect, Short nose, Hypoplasia of the maxilla, Absent thumb, Genera...	ORPHA:500150
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato...	OMIM:613673
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Aortic valve stenosis, Depressed nasal bridge, Small hand, Seizure, Micrognathia, Inguinal hernia...	ORPHA:459061
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Restrictive cardiomyopathy, Micrognathia, Atrial septal defect, Hypoparathyroidism, Precocious pu...	ORPHA:369837
Dyskeratosis Congenita, X-Linked	Bone marrow hypocellularity, Pancytopenia, Leukopenia, Intrauterine growth retardation, Oropharyn...	OMIM:305000
Ring Chromosome 6 Syndrome	Wide nasal bridge, Short distal phalanx of finger, Short neck	ORPHA:1448
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Spina bifida	OMIM:211960
Developmental And Epileptic Encephalopathy 30	Motor stereotypy	OMIM:616341
Baller-Gerold Syndrome	Finger aplasia, Aplasia/Hypoplasia of the radius, Failure to thrive in infancy, Narrow nasal brid...	ORPHA:1225
Thalidomide Embryopathy	Insulin resistance	ORPHA:3312
Evans Syndrome	Epistaxis, Bruising susceptibility, Pallor, Petechiae, Autoimmune hemolytic anemia, Syncope, Neut...	ORPHA:1959
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Depressed nasal bridge, Seizure, Abnormal heart morphology, Epileptic spasm, Anteverted nares, Mi...	ORPHA:314655
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Anemia, Splenomegaly, Ascites	ORPHA:1046
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal vertebral morphology, Choanal atresia, Mental deterioration, Platyspondyly, Failure to t...	ORPHA:2273
Fanconi Anemia, Complementation Group J	Postnatal growth retardation, Intrauterine growth retardation, Short thumb	OMIM:609054
Immunodeficiency 110 With Lymphoproliferation	Verrucae, Lymphopenia, Autoimmune hemolytic anemia, Hodgkin lymphoma, Neutropenia, Lymphoprolifer...	OMIM:614868
Griscelli Syndrome	Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly, Lymphadenopathy, Throm...	ORPHA:381
Leukodystrophy, Hypomyelinating, 10	Failure to thrive, Seizure, Inability to walk, Bulbous nose, Anteverted nares, Malar flattening, ...	OMIM:616420
Renal Tubular Dysgenesis	Pulmonary hypoplasia	ORPHA:3033
Felty Syndrome	Bone marrow hypocellularity, Lymphoma, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly...	ORPHA:47612
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Mandibular prognathia, Broad-based gait, Widely spaced teeth, Inappropriate laughter, Abnormal ea...	ORPHA:98794
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Toe syndactyly, Shallow acetabular fossae, Broad thumb, Hypoplastic iliac wing, Micrognathia, Tal...	OMIM:609945
Acquired Aneurysmal Subarachnoid Hemorrhage	Vasospasm, Congestive heart failure, Ischemic stroke, Cerebral ischemia, Abnormal cerebral artery...	ORPHA:90065
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Broad ribs, Joint stiffness, Genu valgum, Short neck, Disproportionate shor...	ORPHA:583
Osteogenesis Imperfecta, Type Iv	Femoral bowing present at birth, straightening with time, Otosclerosis, Kyphosis, Increased susce...	OMIM:166220
Osteopathia Striata With Cranial Sclerosis	Joint contracture of the hand, Natal tooth, Fibular aplasia, Micrognathia, Large fontanelles, Ven...	OMIM:300373
Familial Osteodysplasia, Anderson Type	Aplastic clavicle, Bifid femur, Kyphosis, Elbow dislocation, Abnormal form of the vertebral bodie...	ORPHA:2769
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Chorea, Inappropriate behavior, Cognitive impairment	ORPHA:309246
Cardiac Septal Defects With Coarctation Of The Aorta	Perimembranous ventricular septal defect, Secundum atrial septal defect	OMIM:212090
Steel Syndrome	Wide nasal bridge, Carpal synostosis, Anteverted nares, Lumbar hyperlordosis, Limited elbow exten...	OMIM:615155
9P13 Microdeletion Syndrome	Wide nasal bridge, Precocious puberty, Microretrognathia, Umbilical hernia, Anteverted nares, Joi...	ORPHA:324313
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Wide nasal bridge, Retrognathia, Seizure, Obesity, Micrognathia, Thoracic kyphosis, Short neck, H...	OMIM:620250
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Dilated cardiomyopathy, Moyamoya phenomenon, Ischemic stroke, Coronary artery atherosclerosis, De...	ORPHA:280679
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased proportion of CD4+CD25+ regulatory T cells, Failure to thrive in infancy, Hepatosplenom...	OMIM:606367
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia, Growth delay	OMIM:611490
Oculodentodigital Dysplasia	Hip dislocation, Carious teeth, Clinodactyly, Underdeveloped nasal alae, Seizure, 3-4 toe syndact...	OMIM:164200
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Wide nasal bridge, Hypoplasia of the maxilla, Palmoplantar keratoderma, Bilateral choanal atresia...	OMIM:106260
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Wide nasal bridge, Seizure, Tetralogy of Fallot, Anteverted nares, Enamel agenesis, Single transv...	OMIM:614701
Abeta Amyloidosis, Iowa Type	Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage	ORPHA:324708
Robinow Syndrome, Autosomal Dominant 3	Broad thumb, Clinodactyly, Micrognathia, Ventricular septal defect, Short neck, Short nose, Synda...	OMIM:616894
Schimke Immunoosseous Dysplasia	Wide nasal bridge, Depressed nasal bridge, Osteopenia, Shallow acetabular fossae, Platyspondyly, ...	OMIM:242900
Congenital Myopathy 22A, Classic	Wide nasal bridge, Spinal rigidity, Kyphosis, Micrognathia, Hip contracture, Neonatal death, Thor...	OMIM:620351
Hepatoportal Sclerosis	Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of the hepatic vascul...	ORPHA:64743
Poland Syndrome	Small hand, Finger syndactyly, Aplasia/Hypoplasia of the sternum, Aplasia/Hypoplasia of the thumb...	ORPHA:2911
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Rachitic rosary, Rickets, O...	OMIM:307800
Alazami Syndrome	Slender long bone, Widely spaced teeth, Abnormal eating behavior, Wide mouth, Malar flattening, S...	ORPHA:319671
Growth Hormone Deficiency, Isolated Partial	Short stature, Postnatal growth retardation	OMIM:615925
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Wide nasal bridge, Depressed nasal ridge, Underdeveloped nasal alae, Micrognathia, Kyphosis	ORPHA:77300
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Growth delay, B lymphocytopenia	OMIM:614069
Congenital Disorder Of Glycosylation, Type Iia	Open mouth, Protruding tongue, Everted lower lip vermilion, Unsteady gait, Thoracolumbar kyphosco...	OMIM:212066
Basel-Vanagaite-Smirin-Yosef Syndrome	Finger syndactyly, Clinodactyly, Difficulty walking, Overlapping toe, Overlapping fingers, Ventri...	ORPHA:464738
Hamamy Syndrome	Wide nasal bridge, Osteopenia, Dental malocclusion, Short 2nd finger, Anteverted nares, Micrognat...	OMIM:611174
Pyknoachondrogenesis	Abnormal intramembranous ossification, Craniofacial hyperostosis, Unossified sacrum, Short iliac ...	ORPHA:3003
Distal Duplication 5Q	Carious teeth, Absent thumb, Prominent nasal bridge, Micrognathia, Ventricular septal defect, Her...	ORPHA:96097
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Intrauterine growth retardation, Prominent nasal bridge, Bicoronal synostosis, Joint stiffness, P...	OMIM:619184
Pelger-Huet Anomaly	Giant platelets, Failure to thrive, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Neut...	OMIM:169400
Craniosynostosis And Dental Anomalies	Lambdoidal craniosynostosis, Depressed nasal bridge, Coronal craniosynostosis, Hypoplasia of the ...	OMIM:614188
Dermatitis, Atopic	Dry skin, Facial erythema, Pallor	OMIM:603165
Adult Idiopathic Neutropenia	Monocytopenia, Lymphopenia, Neutropenia, Monocytosis	ORPHA:2688
Hemihyperplasia, Isolated	Myelomeningocele	OMIM:235000
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Depressed nasal bridge, Narrow chest, Cone-shaped epiphysis, Horizontal ribs, Short ribs, Postaxi...	OMIM:617088
Hemophilia A	Gastrointestinal hemorrhage, Spontaneous hematomas, Intracranial hemorrhage, Intraventricular hem...	ORPHA:98878
Periventricular Nodular Heterotopia 1	Stroke, Patent ductus arteriosus, Cerebral hemorrhage	OMIM:300049
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Bone marrow hypocellularity, Rhizomelic arm shortening, Lymphopenia, Leukopenia, Reticulocytopeni...	ORPHA:508542
Alkuraya-Kucinskas Syndrome	Depressed nasal bridge, Hand clenching, Clinodactyly, Seizure, Anteverted nares, Micrognathia, Ov...	OMIM:617822
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Bifid uvula, Cleft palate, Submucous cleft hard palate	ORPHA:2521
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Depressed nasal ridge, Anteverted nares, Short nose	ORPHA:1355
Hypokalemic Periodic Paralysis	Postprandial hyperglycemia, Adrenocortical adenoma	ORPHA:681
Neurofaciodigitorenal Syndrome	Hypoplasia of the premaxilla, Intrauterine growth retardation, Prominent nasal bridge, Abnormal d...	ORPHA:2673
Cinca Syndrome	Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia, Abnormality of neutrophils, Ab...	ORPHA:1451
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Mandibular prognathia, Prominent nose, Gait ataxia, Low frustration tolerance, Self-mutilation, T...	OMIM:300486
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Clinodactyly, Seizure, Inability to walk, Dysmetria, Ataxia, Mandibular prognathia, Short nose, S...	OMIM:618087
Trisomy 13	Abnormal pelvic girdle bone morphology, Seizure, Ectrodactyly, Intrauterine growth retardation, M...	ORPHA:3378
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus	Short attention span, Hyperplasia of the maxilla, Joint hypermobility	OMIM:613671
Trisomy 20P	Finger syndactyly, Micrognathia, Hernia, Short neck, Cognitive impairment, Short nose, Preaxial h...	ORPHA:261318
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uvula, Cleft soft palate, Unilateral cleft lip, Cleft palate	ORPHA:2736
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
1Q21.1 Microdeletion Syndrome	Wide nasal bridge, Toe syndactyly, Broad thumb, Failure to thrive, Seizure, Bulbous nose, Intraut...	ORPHA:250989
Pallister-Killian Syndrome	Aortic valve stenosis, Small hand, Postaxial foot polydactyly, Delayed cranial suture closure, Mi...	OMIM:601803
Immunodeficiency 60 And Autoimmunity	Decreased proportion of memory B cells, Pancytopenia, Decreased basophil count, Splenomegaly	OMIM:618394
Ear-Patella-Short Stature Syndrome	Aplastic clavicle, Hypoplasia of the maxilla, Abnormal epiphysis morphology, Retrognathia, Failur...	ORPHA:2554
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Cone-shaped epiphysis, Metaphyseal spurs, Thoracic hypoplasia, Preaxial polydactyly, Acetabular s...	OMIM:613091
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Failure to thrive, Lymphopenia, Hepatosplen...	OMIM:242700
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Failure to thrive, Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate producti...	OMIM:612714
Intellectual Developmental Disorder, X-Linked 30	Prominent fingertip pads, Generalized non-motor (absence) seizure, Seizure, Anteverted nares, Pro...	OMIM:300558
Acquired Purpura Fulminans	Macular purpura, Shock, Internal hemorrhage, Prolonged prothrombin time, Thrombocytopenia, Pyoder...	ORPHA:49566
Roifman Syndrome	Postnatal growth retardation, Intrauterine growth retardation, Splenomegaly, Eosinophilia, Lympha...	OMIM:616651
Dyskeratosis Congenita	Hypoplasia of the maxilla, Carious teeth, Coarse metaphyseal trabecularization, Palmoplantar kera...	ORPHA:1775
Orofaciodigital Syndrome Xviii	Wide nasal bridge, Short distal phalanx of finger, Sandal gap, Preaxial polydactyly, Prominent na...	OMIM:617927
Immunodeficiency 67	Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Abnormal natural killer cell...	OMIM:607676
Ring Chromosome 1 Syndrome	Wide nasal bridge, Clinodactyly of the 5th finger, Anteverted nares, Cognitive impairment	ORPHA:1437
Tumor Predisposition Syndrome 4	Glioma, Meningioma, Stomach cancer, Sarcoma, Breast carcinoma	OMIM:609265
Holoprosencephaly 7	Wide nasal bridge, Hypoplastic nasal septum, Hypoplasia of the premaxilla, Seizure, Panhypopituit...	OMIM:610828
Trichodermodysplasia-Dental Alterations Syndrome	Delayed eruption of teeth, Tooth agenesis, Abnormal dental morphology, Abnormal hip bone morpholo...	ORPHA:3353
Arthrogryposis, Distal, With Impaired Proprioception And Touch	Wide nasal bridge, Broad-based gait, Sandal gap, Inability to walk, Elevated circulating creatine...	OMIM:617146
Lipodystrophy, Familial Partial, Type 5	Decreased adiponectin level, Lipodystrophy, Hypertriglyceridemia, Increased C-peptide level, Decr...	OMIM:615238
Familial Multiple Lipomatosis	Insulin resistance	ORPHA:199276
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Small hand, Toe syndactyly, Micrognathia, Ventricular septal defect, Limited elbow movement, Bicu...	OMIM:610759
Pyruvate Kinase Deficiency Of Red Cells	Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Intrauterine growth retardation, P...	OMIM:266200
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Small for gestational age, Febrile seizure (within the age range of 3 months to 6 years), Epilept...	ORPHA:289266
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Depressed nasal bridge, Choanal atresia, Ventricular hypertrophy, Seizure, Abnormal heart morphol...	ORPHA:284169
Holzgreve Syndrome	Intrauterine growth retardation, Joint stiffness, Abnormal morphology of ulna, Hand polydactyly, ...	ORPHA:2167
Infant Acute Respiratory Distress Syndrome	Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis	ORPHA:70587
Thanatophoric Dysplasia Type 2	Platyspondyly, Depressed nasal bridge, Limitation of joint mobility, Micromelia, Seizure, Joint h...	ORPHA:93274
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Hypochromic anemia, Microcytic anemia, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyper...	OMIM:600462
Chromosome 13Q33-Q34 Deletion Syndrome	Wide nasal bridge, Choanal atresia, Delayed eruption of teeth, Seizure, Short thumb, Overlapping ...	OMIM:619148
Craniodigital-Intellectual Disability Syndrome	Finger syndactyly, Narrow nasal bridge, Micrognathia, Spina bifida occulta, Short nose	ORPHA:1514
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Emphysema	OMIM:210050
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Asbestos Intoxication	Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Lung ade...	ORPHA:2302
Ritscher-Schinzel Syndrome 4	Wide nasal bridge, Narrow palate, Chorea, Wide mouth, Thick vermilion border, Short philtrum, Agg...	OMIM:619435
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Craniometaphyseal Dysplasia, Autosomal Recessive	Wide nasal bridge, Depressed nasal ridge, Mandibular prognathia, Flared metaphysis, Nasal congest...	OMIM:218400
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Wide nasal bridge, Myoclonic seizure, Broad nasal tip, Seizure, Inability to walk, Bilateral toni...	OMIM:615716
Jaberi-Elahi Syndrome	Depressed nasal bridge, Broad-based gait, Hand clenching, Kyphosis, Failure to thrive, Inability ...	OMIM:617988
Silver-Russell Syndrome	Insulin resistance, Premature adrenarche, Precocious puberty, Recurrent hypoglycemia, Decreased t...	ORPHA:813
Waardenburg Syndrome, Type 3	Wide nasal bridge, Joint contracture of the hand, Clinodactyly, Camptodactyly of finger, Carpal s...	OMIM:148820
X-Linked Intellectual Disability, Van Esch Type	Clinodactyly of the 5th finger, Attention deficit hyperactivity disorder, Retrognathia, Reduced s...	ORPHA:163976
Retinitis Pigmentosa	Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus, Abnormal testis morphology	ORPHA:791
Mucopolysaccharidosis, Type Vii	Hypoplasia of the odontoid process, Limitation of joint mobility, Postnatal growth retardation, G...	OMIM:253220
X-Linked Intellectual Disability, Cantagrel Type	Tented upper lip vermilion, Short philtrum, Motor stereotypy, Short nose	ORPHA:85277
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Retrognathia, Failure to thrive, Tracheomalacia, Tetralogy of Fallot, Sh...	OMIM:612561
Cortical Dysplasia, Complex, With Other Brain Malformations 12	Wide nasal bridge, Clinodactyly, Seizure, Femoral hernia, Scoliosis, Prominent metopic ridge	OMIM:620316
Acute Interstitial Pneumonia	Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Nodular p...	ORPHA:79126
Non-Distal Duplication 13Q	Micrognathia, Hernia, Arachnodactyly, Cognitive impairment, Postaxial hand polydactyly, Short nose	ORPHA:1702
Cartilage-Hair Hypoplasia	Asymmetry of the thorax, Metaphyseal cupping, Abnormal pelvic girdle bone morphology, Absent pube...	OMIM:250250
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Dextrotransposition of the great arte...	OMIM:619995
Menkes Disease	Short stature, Intrauterine growth retardation, Cutis laxa, Intracranial hemorrhage	OMIM:309400
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Intrauteri...	OMIM:301310
Inverted Duplicated Chromosome 15 Syndrome	Broad nasal tip, 2-3 toe syndactyly, Aggressive behavior, Short philtrum, Hyperactivity, Self-bit...	ORPHA:3306
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Contractures of the large joints, Seizure, Failure to thrive, Generalized-onset seizure, Congenit...	OMIM:617527
Fetal Gaucher Disease	Abnormality of the spleen, Pancytopenia, Splenomegaly, Neonatal death, Thrombocytopenia, Stillbir...	ORPHA:85212
Beemer Lethal Malformation Syndrome	Wide nasal bridge	OMIM:209970
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Juvenile myelomonocytic leukemia, Failure to thrive, Postnatal growth retardation, Hepatosplenome...	OMIM:613563
Amelogenesis Imperfecta	Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior...	ORPHA:88661
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Depression, Limb ataxia, Gait ataxia, Dysmetria, Reduced social reciprocity, Aggressive behavior,...	OMIM:615157
Genitopalatocardiac Syndrome	Wide nasal bridge, Intrauterine growth retardation, Micrognathia, Congenital diaphragmatic hernia...	ORPHA:2075
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Abnormal T cell count, Hepatic hemophagocytosis, Abnormal B cell count, Autoimmune hemolytic anem...	OMIM:620430
Frontoocular Syndrome	Coronal craniosynostosis, Micrognathia, Prominent nasal bridge, Atrial septal defect, Pulmonic st...	OMIM:605321
Omodysplasia 2	Wide nasal bridge, Bifid nasal tip, Depressed nasal bridge, Broad femoral neck, Short 1st metacar...	OMIM:164745
Trigonocephaly 1	Wide nasal bridge, Lumbar hemivertebrae, Omphalocele, Metopic synostosis, Craniosynostosis, Short...	OMIM:190440
Trisomy 10P	Depressed nasal bridge, Abnormality of the nose, Retrognathia, Seizure, Abnormal heart morphology...	ORPHA:171929
Rett Syndrome, Congenital Variant	Depressed nasal bridge, Bruxism, Chorea, Bulbous nose, Reduced social reciprocity, Irritability, ...	OMIM:613454
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Short stature, Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology	OMIM:601076
Mandibulofacial Dysostosis, Guion-Almeida Type	Choanal atresia, Slender finger, Seizure, Preaxial hand polydactyly, Anteverted nares, Micrognath...	OMIM:610536
Aromatase Deficiency	Insulin resistance, Type II diabetes mellitus, Cryptorchidism, Hepatic steatosis, Enlarged polycy...	ORPHA:91
Aminopterin/Methotrexate Embryofetopathy	Spinal dysraphism, Tetralogy of Fallot, Intrauterine growth retardation, Encephalocele, Hydroceph...	ORPHA:1908
Intellectual Developmental Disorder, Autosomal Dominant 51	Wide nasal base, Wide nasal bridge, Failure to thrive, Febrile seizure (within the age range of 3...	OMIM:617788
Hypohidrotic Ectodermal Dysplasia	Hypoplasia of the maxilla, Failure to thrive, Anteverted nares, Cognitive impairment, Sinusitis	ORPHA:238468
Cutis Laxa, Autosomal Recessive, Type Ib	Depressed nasal bridge, Retrognathia, Bulbous nose, Micrognathia, Congenital diaphragmatic hernia...	OMIM:614437
Myelocytic Leukemia-Like Syndrome, Familial, Chronic	Chronic myelogenous leukemia	OMIM:600080
Dyssegmental Dysplasia, Silverman-Handmaker Type	Wide nasal bridge, Hypoplastic ilia, Anisospondyly, Limitation of joint mobility, Micromelia, Bro...	ORPHA:1865
Coffin-Siris Syndrome	Wide nasal base, Depressed nasal bridge, Recurrent upper respiratory tract infections, Broad nasa...	ORPHA:1465
Phelan-Mcdermid Syndrome	Wide nasal bridge, Broad-based gait, Dental malocclusion, Impaired pain sensation, Long philtrum,...	OMIM:606232
Antley-Bixler Syndrome	Narrow chest, Camptodactyly of finger, Delayed cranial suture closure, Joint stiffness, Femoral b...	ORPHA:83
Abeta Amyloidosis, Italian Type	Stroke, Cerebral hemorrhage	ORPHA:324713
Primary Angiitis Of The Central Nervous System	Stroke, Transient ischemic attack, Intracranial hemorrhage, Cerebral vasculitis	ORPHA:140989
Baraitser-Winter Cerebrofrontofacial Syndrome	Wide nasal bridge, Retrognathia, Seizure, Delayed cranial suture closure, Failure to thrive, Depr...	ORPHA:2995
Gaucher Disease, Perinatal Lethal	Depressed nasal bridge, Retrognathia, Seizure, Akinesia, Micrognathia, Anteverted nares, Intraute...	OMIM:608013
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Depressed nasal bridge, Toe syndactyly, Broad thumb, Underdeveloped nasal alae, Seizure, Antevert...	OMIM:619720
Robinow Syndrome, Autosomal Dominant 2	Mesomelia, Depressed nasal bridge, Short distal phalanx of finger, Broad thumb, Dental malocclusi...	OMIM:616331
Orofaciodigital Syndrome Xix	Narrow palate, Carious teeth, Downturned corners of mouth, Lobulated tongue, Cleft soft palate, N...	OMIM:620107
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Spina bifida occulta, Subdural hemorrhage	OMIM:618291
Glutamine Deficiency, Congenital	Wide nasal bridge, Depressed nasal bridge, Micromelia, Seizure, Anteverted nares, Neonatal death,...	OMIM:610015
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Increased hepatic echogenicity,...	OMIM:278000
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Wide nasal bridge, Umbilical hernia, Prominent nose, Intrauterine growth retardation, Malar flatt...	ORPHA:1292
Pfeiffer Syndrome	Wide nasal bridge, Broad thumb, Synostosis of carpal bones, Hypoplasia of the zygomatic bone, Fin...	ORPHA:710
Optic Atrophy 7 With Or Without Auditory Neuropathy	Hypertrophic cardiomyopathy, Pallor	OMIM:612989
Peroxisomal Acyl-Coa Oxidase Deficiency	Wide nasal bridge, Depressed nasal bridge, Seizure	OMIM:264470
White Forelock With Malformations	Aplasia/Hypoplasia of the distal phalanges of the toes, Atrial septal defect	OMIM:277740
Developmental Delay, Language Impairment, And Ocular Abnormalities	Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Contract...	OMIM:620141
Léri-Weill Dyschondrosteosis	Radial bowing, Elbow dislocation, Short tibia, Abnormal tibia morphology, Genu valgum, Patellar a...	ORPHA:240
Distal 22Q11.2 Microdeletion Syndrome	Toe syndactyly, Ventricular septal defect, Arachnodactyly, Bowing of the long bones, Atrial septa...	ORPHA:261330
Tricho-Dento-Osseous Syndrome	Dental enamel pits, Finger clinodactyly, Widely spaced teeth, Periapical tooth abscess, Enamel hy...	ORPHA:3352
Congenital Factor Vii Deficiency	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ...	ORPHA:327
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Short stature, Splenomegaly	ORPHA:2204
Loeys-Dietz Syndrome 5	Reduced subcutaneous adipose tissue, Ventricular septal defect, Arachnodactyly, Talipes equinovar...	OMIM:615582
Takenouchi-Kosaki Syndrome	Flared nostrils, Wide nasal bridge, Dental malocclusion, Clinodactyly, Seizure, Bulbous nose, Ove...	OMIM:616737
Acrocardiofacial Syndrome	Wide nasal bridge, Toe syndactyly, Finger syndactyly, Seizure, Camptodactyly of finger, Tetralogy...	ORPHA:2008
Developmental And Epileptic Encephalopathy 6B	Inability to walk, Chorea, Narrow mouth, Ataxia, Motor stereotypy, Choreoathetosis	OMIM:619317
Beckwith-Wiedemann Syndrome	Otosclerosis, Hypoglycemia, Umbilical hernia, Hypertrophic cardiomyopathy, Obesity, Large for ges...	ORPHA:116
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Intestinal lymphangiectasia, Ascites, Lymphopenia, Disseminated cutaneous wa...	ORPHA:90362
Sneddon Syndrome	Lymphopenia, Ischemic stroke, Stroke, Cerebral hemorrhage, Hypertension	OMIM:182410
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Impaired pain sensation, Gait ataxia, Open mouth, Overfriendliness, Tented upper lip vermilion, T...	OMIM:616579
Craniopharyngioma	Increased circulating prolactin concentration, Seizure, Hypopituitarism, Hypogonadism, Obesity, C...	ORPHA:54595
Monosomy 18Q	Aortic valve stenosis, Slender build, Arachnodactyly, Talipes equinovarus, Choreoathetosis, Bulbo...	ORPHA:1600
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Epiphyseal dysplasia, Depressed nasal bridge, Osteopenia, Decreased response to growth hormone st...	OMIM:614732
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Wide nasal bridge, Short distal phalanx of finger, Broad nasal tip, Short toe, Seizure, Abnormal ...	OMIM:239300
Combined Deficiency Of Factor V And Factor Viii	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis...	ORPHA:35909
Chromosome 2P16.1-P15 Deletion Syndrome	Wide nasal bridge, Depressed nasal bridge, Recurrent upper respiratory tract infections, Joint co...	OMIM:612513
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Anencephaly, Spina bifida	ORPHA:2476
Hurler Syndrome	Hypoplasia of the odontoid process, Endocardial fibroelastosis, Hernia, Short neck, Diaphyseal un...	OMIM:607014
Trichothiodystrophy 3, Photosensitive	Neoplasm of the skin, Failure to thrive, Lymphopenia, Intrauterine growth retardation, Abdominal ...	OMIM:616395
Intellectual Developmental Disorder, Autosomal Recessive 65	Secundum atrial septal defect, Bulbous nose, Prominent nasal bridge, Gait ataxia, Inguinal hernia...	OMIM:618109
Ohdo Syndrome	Wide nasal bridge, Depressed nasal bridge, Seizure, Anteverted nares, Micrognathia, Joint hypermo...	OMIM:249620
Lopes-Maciel-Rodan Syndrome	Small hand, Bruxism, Dysphagia, Unsteady gait, Short foot, Motor stereotypy, Agitation	OMIM:617435
Factor Vii Deficiency	Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged bleeding after dental extraction...	OMIM:227500
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Pallor, Reticulocytosi...	ORPHA:35858
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Familial Multiple Nevi Flammei	Arteriovenous malformation, Pulmonary embolism, Skin ulcer, Venous insufficiency, Arrhythmia, Int...	ORPHA:624
16P13.11 Microduplication Syndrome	Tetralogy of Fallot, Ventricular septal defect, Joint hypermobility, Arachnodactyly, Attention de...	ORPHA:261243
Macrocephaly-Developmental Delay Syndrome	Self-injurious behavior, Wide nasal bridge, Microretrognathia, Motor stereotypy, Clinodactyly of ...	ORPHA:397612
Hengel-Maroofian-Schols Syndrome	Wide nasal bridge, Foot joint contracture, Seizure, Inability to walk, Gait imbalance, Bicuspid a...	OMIM:619641
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Wide nasal bridge, Clinodactyly, Generalized non-motor (absence) seizure, Seizure, Bulbous nose, ...	OMIM:617360
Methanol Poisoning	Inflammatory arteriopathy, Permanent atrial fibrillation, Cerebral hemorrhage, Intracranial hemor...	ORPHA:31825
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt...	OMIM:619463
Liang-Wang Syndrome	Wide nasal bridge, Macrodontia of permanent maxillary central incisor, Generalized non-motor (abs...	OMIM:618729
Neuraminidase Deficiency	Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells...	OMIM:256550
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Broad-based gait, Small for gestational age, Seizure, Failure to thrive in infancy, Narrow nose, ...	OMIM:618891
Osteopetrosis, Autosomal Dominant 3	Anemia, Hepatomegaly, Splenomegaly	OMIM:618107
Intellectual Developmental Disorder, Autosomal Recessive 45	Wide nasal bridge, Bulbous nose, Anteverted nares, Retrognathia	OMIM:615979
Microphthalmia, Syndromic 2	Contracture of the proximal interphalangeal joint of the 2nd toe, Radioulnar synostosis, Broad na...	OMIM:300166
Hadziselimovic Syndrome	Ventricular hypertrophy, Failure to thrive, Tetralogy of Fallot, Anteverted nares, Prominent nasa...	OMIM:612946
Cerebral Cavernous Malformations 3	Cerebral cavernous malformation, Cerebral hemorrhage	OMIM:603285
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic root aneurysm, Abdominal aortic aneurysm, Carotid artery dilatation, Patent ductus arterio...	ORPHA:91387
Xylt1-Cdg	Broad thumb, Joint dislocation, Clinodactyly, Flared metaphysis, Growth delay, Broad ribs, Joint ...	ORPHA:370930
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Increased mean corpuscular volume, Pancytopenia, Pallor, Megaloblastic anemia, Thrombocytopenia	OMIM:613839
Axial Mesodermal Dysplasia Spectrum	Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Abnormality of the...	ORPHA:1834
Caudal Duplication	Myelomeningocele, Spinal cord lesion, Spina bifida	ORPHA:1756
Musculocontractural Ehlers-Danlos Syndrome	Slender finger, Atlantoaxial dislocation, Microretrognathia, Cervical kyphosis, Abnormal heart mo...	ORPHA:2953
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Choreoathetosis, Ventricular septal defect	OMIM:614249
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hepatosplenomegaly, Pallor, Reticulocytosis, Decreased mean corpuscular volume, Hemolytic anemia	OMIM:611590
Immunodeficiency 81	Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Decreased prop...	OMIM:619374
Recurrent Respiratory Papillomatosis	Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atel...	ORPHA:60032
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia, Intestinal lymphangiectasia	OMIM:207731
Harderoporphyria	Splenomegaly, Reticulocytosis, Hepatomegaly, Prolonged neonatal jaundice, Hemolytic anemia	OMIM:618892
Cyclic Neutropenia	Recurrent tonsillitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Perianal absces...	ORPHA:2686
Juvenile Neuronal Ceroid Lipofuscinosis	Depression, Emotional lability, Loss of ambulation, Dysphagia, Cognitive impairment, Motor deteri...	ORPHA:79264
Non-Functioning Paraganglioma	Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo...	ORPHA:94080
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Small hand, Clinodactyly, Congenital diaphragmatic hernia, Ventricular septal defect, Atrial sept...	OMIM:301044
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Subperiosteal bone resorption, Rachitic rosary, Rickets, Osteoma...	ORPHA:289157
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Cholecystitis, Nonspherocytic h...	OMIM:235700
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Wide nasal bridge, Broad nasal tip, Myoclonic seizure, Generalized non-motor (absence) seizure, S...	OMIM:614207
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes	Wide nasal bridge, Small hand, Clinodactyly, Brachydactyly, Pericardial effusion, Short phalanx o...	OMIM:614684
Chromosome 6Pter-P24 Deletion Syndrome	Depressed nasal bridge, Seizure, Umbilical hernia, Tetralogy of Fallot, Malar flattening, Patent ...	OMIM:612582
Alstrom Syndrome	Dilated cardiomyopathy, Scoliosis, Insulin-resistant diabetes mellitus, Decreased response to gro...	OMIM:203800
Common Variable Immunodeficiency	Lymphoma, Failure to thrive in infancy, Lymphopenia, Abnormality of the liver, Splenomegaly, Gast...	ORPHA:1572
4Q21 Microdeletion Syndrome	Self-injurious behavior, Depressed nasal bridge, Small hand, Toe syndactyly, Abnormality of the d...	ORPHA:238750
Tatton-Brown-Rahman Syndrome	Seizure, Umbilical hernia, Febrile seizure (within the age range of 3 months to 6 years), Antever...	OMIM:615879
Trisomy X	Precocious puberty, Seizure, Ventricular septal defect, Joint hypermobility, Attention deficit hy...	ORPHA:3375
Monosomy 13Q34	Insulin resistance, Hepatic steatosis	ORPHA:96168
Acrofacial Dysostosis, Catania Type	Small hand, Carious teeth, Microretrognathia, Hypoplasia of the zygomatic bone, Finger syndactyly...	ORPHA:1786
Alagille Syndrome	Short distal phalanx of finger, Failure to thrive, Abnormal form of the vertebral bodies, Intraut...	ORPHA:52
Atelosteogenesis, Type I	Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Neonatal death, Talipes equinova...	OMIM:108720
Wolf-Hirschhorn Syndrome	Abnormal vertebral morphology, Micrognathia, Congenital diaphragmatic hernia, Hernia, Talipes equ...	ORPHA:280
Intellectual Developmental Disorder With Autism And Macrocephaly	Wide nasal bridge, Overweight, Seizure, Wide nose	OMIM:615032
Zechi-Ceide Syndrome	Wide nasal bridge, Short distal phalanx of finger, Sandal gap, Underdeveloped nasal alae, Malar f...	OMIM:612916
Intellectual Developmental Disorder, Autosomal Recessive 72	Wide nasal base, Broad nasal tip, Secundum atrial septal defect, Seizure, Prominent nose, Wide na...	OMIM:618665
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cardiomyopathy, Seizure, Situs inversus totalis, Ventricular septal defect, Atrial septal defect,...	OMIM:249270
Septopreoptic Holoprosencephaly	Abnormal vertebral morphology, Abnormal rib morphology	ORPHA:280195
Parkinsonism-Dystonia 3, Childhood-Onset	Depression, Chorea, Reduced social reciprocity, Aggressive behavior, Ataxia, Dysphagia	OMIM:619738
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Toe syndactyly, Dilatation of the ventricular cavity, Ventricular septal defect, Atrial septal de...	ORPHA:459070
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Portal fibrosis, Portal hypertension, Splenomegaly, Iron deficiency anemia, Hep...	OMIM:616278
Hypomandibular Faciocranial Dysostosis	Anteverted nares, Choanal stenosis, Atrial septal defect, Cognitive impairment, Craniosynostosis,...	ORPHA:1790
Chromosome 5P13 Duplication Syndrome	Wide nasal bridge, Seizure, Bulbous nose, Single transverse palmar crease, Large hands, Long fing...	OMIM:613174
Ciliary Dyskinesia, Primary, 53	Situs inversus totalis, Patent foramen ovale, Chronic sinusitis, Cardiomegaly, Perimembranous ven...	OMIM:620642
Gaucher Disease Type 1	Splenic infarction, Cholelithiasis, Growth delay, Ascites, Hepatosplenomegaly, Pancytopenia, Hype...	ORPHA:77259
Purine Nucleoside Phosphorylase Deficiency	Lymphopenia, Neoplasm, Autoimmune hemolytic anemia, Abnormal T cell morphology, Decreased proport...	ORPHA:760
Pfapa Syndrome	Hepatomegaly, Weight loss, Splenomegaly, Lymphadenopathy	ORPHA:42642
Eiken Syndrome	Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Long hallux, Broad ribs, Broad...	OMIM:600002
Trisomy 8P	Clinodactyly of the 2nd finger, Overlapping toe, Hernia, Short neck, Dysplastic aortic valve, Sho...	ORPHA:264450
Mosaic Trisomy 16	Craniofacial asymmetry, Short forearm, Abnormality of the nose, Seizure, Clinodactyly, Abnormal h...	ORPHA:1708
Arthrogryposis Multiplex Congenita 5	Hand clenching, Micrognathia, Talipes equinovarus, Short neck, Hip dislocation, Inguinal hernia, ...	OMIM:618947
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Increased circulating IgE level, Osteomyelitis, Decreased circulating IgA level, Micrognathia, Re...	OMIM:618282
Congenital Dyserythropoietic Anemia Type Iii	Gingival bleeding, Increased mean corpuscular volume, Abnormal erythrocyte morphology, Oral cavit...	ORPHA:98870
Dyskeratosis Congenita, Autosomal Recessive 8	Bone marrow hypocellularity, Reduced natural killer cell count, Pancytopenia, Intrauterine growth...	OMIM:620133
Mulibrey Nanism	Wide nasal bridge, Intrauterine growth retardation, Cachexia	ORPHA:2576
Ohdo Syndrome, X-Linked	Wide nasal bridge, Depressed nasal bridge, Clinodactyly, Seizure, Short thumb, Bulbous nose, Prom...	OMIM:300895
Cardiofaciocutaneous Syndrome 3	Failure to thrive, Seizure, Hypertrophic cardiomyopathy, Ventricular septal defect, Short neck, A...	OMIM:615279
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Hypoplastic ischia, Depressed nasal bridge, Intrauterine growth retardation, Polydactyly, Agammag...	OMIM:616910
Thoraco-Abdominal Enteric Duplication	Diastomatomyelia, Meningocele	ORPHA:1759
Chiari Malformation Type Ii	Cervical myelopathy, Myelomeningocele, Syringomyelia, Hydrocephalus, Spina bifida	OMIM:207950
Chromosome 16P13.3 Duplication Syndrome	Micrognathia, Ventricular septal defect, Short neck, Atrial septal defect, Small thenar eminence,...	OMIM:613458
Intellectual Developmental Disorder, Autosomal Dominant 38	Self-injurious behavior, Depressed nasal bridge, Downturned corners of mouth, Bruxism, Tented upp...	OMIM:616393
Renpenning Syndrome	Severe short stature, Joint stiffness, Abnormal thumb morphology, Sprengel anomaly, Pectus excava...	ORPHA:3242
Icf Syndrome	Anemia, Lymphopenia, Abnormality of neutrophils, Short stature	ORPHA:2268
9Q21.13 Microdeletion Syndrome	Postnatal growth retardation, Vertebral segmentation defect, Polydactyly, Hip dysplasia, Craniosy...	ORPHA:531151
Multiple Pterygium Syndrome, Escobar Variant	Intercrural pterygium, Dysplastic patella, Patellar aplasia, Arachnodactyly, Talipes equinovarus,...	OMIM:265000
Wilson Disease	Hepatitis, Failure to thrive, Acute hepatitis, Hepatic steatosis, Splenomegaly, Increased body we...	ORPHA:905
Kapur-Toriello Syndrome	Joint contracture of the hand, Short thumb, Seizure, Camptodactyly of finger, Bulbous nose, Intra...	OMIM:244300
Noonan Syndrome 7	Depressed nasal bridge, Seizure, Hypertrophic cardiomyopathy, Large for gestational age, Joint hy...	OMIM:613706
Leprechaunism	Postprandial hyperglycemia, Insulin resistance, Central hypothyroidism, Failure to thrive, Hypert...	ORPHA:508
Cantú Syndrome	Wide nasal bridge, Short distal phalanx of finger, Platyspondyly, Finger syndactyly, Umbilical he...	ORPHA:1517
Optic Atrophy 1	Pallor	OMIM:165500
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Hypoplastic iliac wing, Postnatal growth re...	OMIM:210720
Simpson-Golabi-Behmel Syndrome	Toe syndactyly, Broad thumb, Finger syndactyly, Increased circulating IgE level, Congenital diaph...	ORPHA:373
Purine Nucleoside Phosphorylase Deficiency	Failure to thrive, Lymphoma, Lymphopenia, Lymph node hypoplasia, Autoimmune hemolytic anemia, Spl...	OMIM:613179
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Gand Syndrome	Wide nasal bridge, Long toe, Broad nasal tip, Long fingers	OMIM:615074
Autoinflammation With Arthritis And Dyskeratosis	Failure to thrive, Laryngeal papilloma, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic ane...	OMIM:617388
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Bronchiolitis, Atelectasis, Pulmonary fibrosis	ORPHA:254361
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Limitation of joint mobility, Camptodactyly of finger, Micrognathia, Short nose, Symphalangism af...	ORPHA:2547
Agnathia-Otocephaly Complex	Microglossia, Aglossia, Narrow mouth, Cleft palate, Pulmonary hypoplasia	OMIM:202650
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Wide nasal bridge, Microretrognathia, Failure to thrive, Seizure, Umbilical hernia, Hypertrophic ...	OMIM:614052
Simple Cryoglobulinemia	Monoclonal immunoglobulin M proteinemia, Chronic lymphatic leukemia, B-cell lymphoma, Weight loss...	ORPHA:91139
Spinocerebellar Ataxia 47	Wide nasal bridge, Small hand, Clinodactyly, Seizure, Dysmetria, Ataxia, Tapered finger	OMIM:617931
Waardenburg Syndrome Type 3	Synostosis of carpal bones, Tracheomalacia, Camptodactyly of finger, Narrow nasal bridge, Joint s...	ORPHA:896
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No...	OMIM:613470
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Spondylocarpotarsal Synostosis Syndrome	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carpal synostosis, C2-C3 subluxation, T...	OMIM:272460
Stevenson-Carey Syndrome	Joint contracture of the hand, Underdeveloped nasal alae, Seizure, Anteverted nares, Prominent na...	OMIM:611961
Encephalopathy Due To Sulfite Oxidase Deficiency	Seizure, Short nose, Ataxia	ORPHA:833
Developmental Delay With Or Without Dysmorphic Facies And Autism	Wide nasal bridge, Depressed nasal bridge, 2-3 toe cutaneous syndactyly, Seizure, Umbilical herni...	OMIM:618454
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Anosmia, Diastema, Agenesis of molar, Microdontia, Supernumerary tooth	OMIM:619718
Houge-Janssens Syndrome 3	Broad nasal tip, Generalized non-motor (absence) seizure, Umbilical hernia, Muscular ventricular ...	OMIM:618354
3Q29 Microduplication Syndrome	Wide nasal bridge, Toe syndactyly, Sandal gap, Seizure, Obesity, Large fontanelles, Ventricular s...	ORPHA:251038
Symptomatic Form Of Hfe-Related Hemochromatosis	Decreased serum testosterone concentration, Hyperglycemia, Portal hypertension, Splenomegaly, Hyp...	ORPHA:465508
Distal Triplication 15Q	Retrognathia, Abnormal heart morphology, Intrauterine growth retardation, Micrognathia, Large for...	ORPHA:314588
Farber Lipogranulomatosis	Hepatomegaly, Splenomegaly, Failure to thrive, Lipogranulomatosis	OMIM:228000
Fetal Akinesia Deformation Sequence 2	Wide nasal bridge, Flexion contracture, Micrognathia	OMIM:618388
Koolen-De Vries Syndrome	Pear-shaped nose, Ventricular septal defect, Narrow palm, Bicuspid aortic valve, Atrial septal de...	OMIM:610443
Intellectual Developmental Disorder, Autosomal Dominant 73	Premature adrenarche, Bilateral single transverse palmar creases, Thoracolumbar scoliosis, Long n...	OMIM:620450
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Cachexia, Microretrognathia, Short nose, Postaxial hand polydactyly	ORPHA:1389
Cyclic Vomiting Syndrome	Pallor, Growth delay, Cardiomyopathy	OMIM:500007
Dyskeratosis Congenita, Autosomal Recessive 5	Bone marrow hypocellularity, Leukopenia, Intrauterine growth retardation, Postnatal growth retard...	OMIM:615190
Congenital Gerbode Defect	Bacterial endocarditis, Ventricular septal defect, Constrictive pericarditis, Perimembranous vent...	ORPHA:99095
Foxg1 Syndrome Due To 14Q12 Microdeletion	Depressed nasal bridge, Seizure, Bulbous nose, Scoliosis, Mandibular prognathia, Kyphosis, Short ...	ORPHA:261144
Chondrodysplasia Punctata 1, X-Linked Recessive	Depressed nasal bridge, Anosmia, Short distal phalanx of finger, Abnormality of the vertebral col...	OMIM:302950
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Depressed nasal bridge, Retrognathia, Underdeveloped nasal alae, Generalized non-motor (absence) ...	ORPHA:457351
Chromosome 1P36 Deletion Syndrome, Proximal	Bifid nasal tip, Dilated cardiomyopathy, Failure to thrive, Seizure, Clinodactyly, Biventricular ...	OMIM:619343
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Wide nasal bridge, Seizure, Hypertrophic cardiomyopathy, Hypocholesterolemia, Anteverted nares, M...	OMIM:618810
Tetrasomy 18P	Seizure, Gait disturbance, Large hands, Scoliosis, Short nose	ORPHA:3307
Immunodeficiency 43	Reduced natural killer cell count, Lung abscess, B lymphocytopenia	OMIM:241600
Warburg Micro Syndrome 3	Myoclonic seizure, Inability to walk, Micrognathia, Kyphoscoliosis, Bilateral tonic-clonic seizur...	OMIM:614222
Intellectual Developmental Disorder, Autosomal Dominant 45	Chorea, Recurrent hand flapping, Arachnodactyly, Attention deficit hyperactivity disorder, Hypera...	OMIM:617600
Werner Syndrome	Insulin resistance, Hypogonadism, Thyroid carcinoma, Type II diabetes mellitus, Aplasia/Hypoplasi...	ORPHA:902
Mosaic Variegated Aneuploidy Syndrome	Rhabdomyosarcoma, Ascites, Vaginal neoplasm, Intrauterine growth retardation, Stomach cancer, Mye...	ORPHA:1052
Nevus Comedonicus Syndrome	Spina bifida occulta, Spina bifida	ORPHA:64754
1Q41Q42 Microdeletion Syndrome	Pulmonary hypoplasia, Cleft palate, Submucous cleft hard palate, Thick vermilion border	ORPHA:250999
Majeed Syndrome	Failure to thrive, Leukocytosis, Splenomegaly, Cachexia, Weight loss, Hypochromic microcytic anem...	ORPHA:77297
Kleefstra Syndrome	Limitation of joint mobility, Delayed eruption of teeth, Seizure, Tracheomalacia, Tetralogy of Fa...	ORPHA:261494
Bannayan-Riley-Ruvalcaba Syndrome	Broad thumb, Seizure, Hypoglycemia, Neoplasm of the adrenal cortex, Anteverted nares, Micrognathi...	ORPHA:109
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome	Wide nasal bridge, Hypoplasia of the zygomatic bone, Umbilical hernia, Genu valgum, Large fontane...	ORPHA:1778
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Confusion, Emotional lability, Cognitive impairment, Ataxia, Delirium, Motor stereotypy, Agitation	ORPHA:927
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Congenital Disorder Of Glycosylation, Type Iil	Decreased specific anti-polysaccharide antibody level, Retrognathia, Seizure, Failure to thrive, ...	OMIM:614576
Woods Syndrome	Wide nasal bridge, Limited elbow extension, Single transverse palmar crease, Ventricular septal d...	OMIM:615236
Intellectual Developmental Disorder, Autosomal Dominant 34	Broad-based gait, Widely spaced teeth, Bruxism, Anteverted nares, 2-3 toe syndactyly, Smooth phil...	OMIM:616351
Late Infantile Neuronal Ceroid Lipofuscinosis	Mental deterioration, Inability to walk, Obsessive-compulsive trait, Low frustration tolerance, A...	ORPHA:168491
Immunodeficiency 49	Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc...	OMIM:617237
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Intellectual Developmental Disorder, Autosomal Dominant 39	Wide nasal base, Wide nasal bridge, Generalized non-motor (absence) seizure, Obesity, Bilateral t...	OMIM:616521
Isolated Split Hand-Split Foot Malformation	Oligodactyly, Absent hand, Split hand, Finger syndactyly	ORPHA:2440
Bcard Syndrome	Platyspondyly, Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, E...	OMIM:612394
Acromesomelic Dysplasia 1	Radial bowing, Long hallux, Beaking of vertebral bodies, Broad phalanx, Cone-shaped epiphyses of ...	OMIM:602875
Genitourinary And/Or Brain Malformation Syndrome	Joint stiffness, Micrognathia, Streak ovary, Aplasia of the nasal bone, Kyphoscoliosis, Attention...	OMIM:618820
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Failure to thrive, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepa...	OMIM:601847
Cole Disease	Hyperglycemia	OMIM:615522
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Anosmia, Short distal phalanx of finger, Hypoplasia of the zygomatic bone, Joint stiffness, Genu ...	ORPHA:1295
Primary Non-Essential Cutis Verticis Gyrata	Keloids, Seizure, Ventricular septal defect, Atrial septal defect, Scoliosis	ORPHA:357225
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Pancytopenia, Splenomegaly	OMIM:614979
Pgm3-Cdg	Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous...	ORPHA:443811
Autoimmune Lymphoproliferative Syndrome	Neoplasm of the skin, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T c...	ORPHA:3261
Hemifacial Hyperplasia With Strabismus	Submucous cleft hard palate	OMIM:141350
Trisomy 18	Choanal atresia, Microretrognathia, Deviation of finger, Narrow pelvis bone, Camptodactyly of fin...	ORPHA:3380
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Self-injurious behavior, Mandibular prognathia, Retrognathia, Sandal gap, Micrognathia, Joint con...	OMIM:618914
Noonan Syndrome 11	Depressed nasal bridge, Hypertrophic cardiomyopathy, Bulbous nose, Palmoplantar cutis laxa, Atria...	OMIM:618499
Chromosome 17P13.3, Telomeric, Duplication Syndrome	3-4 finger syndactyly, Short toe, Short tibia, Absent hallux, Oligodactyly, Ectrodactyly, Contrac...	OMIM:612576
Sialidosis Type 1	Wide nasal bridge, Abnormal form of the vertebral bodies, Seizure, Myoclonus, Hernia, Gait distur...	ORPHA:812
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Abnormal vascular...	ORPHA:464321
Serkal Syndrome	Malrotation of small bowel, Orofacial cleft, Pulmonary hypoplasia	ORPHA:139466
Glycogen Storage Disease Ixb	Splenomegaly, Increased hepatic glycogen content, Short stature, Hepatomegaly, Growth delay	OMIM:261750
Mosaic Trisomy 9	Limitation of joint mobility, Elbow dislocation, Endocardial fibroelastosis, Micrognathia, Large ...	ORPHA:99776
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Micrognathia, Arachnodactyly, Radioulnar synostosis, Talipes equinovarus, Bowing of the long bone...	OMIM:130070
Joubert Syndrome 10	Wide nasal bridge, Postaxial foot polydactyly, Obesity, Dysmetria, Decreased body weight, Brachyd...	OMIM:300804
Omodysplasia 1	Short tibia, Limited knee flexion/extension, Limited elbow flexion, Limited hip movement, Microgn...	OMIM:258315
Cardiac-Valvular Ehlers-Danlos Syndrome	Sandal gap, Seizure, Abnormal heart valve morphology, Bulbous nose, Atrophic scars, Genu valgum, ...	ORPHA:230851
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Recurrent upper respiratory tract infections, Seizure, Umbilical hernia, Persistence of primary t...	OMIM:619769
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Van Esch-O'Driscoll Syndrome	Depressed nasal bridge, Retrognathia, Seizure, Sacral dimple, Intrauterine growth retardation, Cl...	OMIM:301030
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Congenital pulmonary airway malformation, Cleft lip, Bilateral lung agenesis, Pulmonary artery st...	OMIM:611812
Bencze Syndrome	Open bite, Submucous cleft hard palate	ORPHA:1241
Dentici-Novelli Neurodevelopmental Syndrome	Widely spaced teeth, Inability to walk, Prominent nasal bridge, Thin upper lip vermilion, Motor s...	OMIM:619877
Combined Oxidative Phosphorylation Deficiency 54	Hyperglycemia, Hypergonadotropic hypogonadism	OMIM:619737
Mesomelic Dysplasia, Savarirayan Type	Short forearm, Short tibia, Fibular aplasia, Fibular hypoplasia, Absent tibia, Delayed closure of...	OMIM:605274
Cerebellar-Facial-Dental Syndrome	Wide nasal bridge, Macrodontia of permanent maxillary central incisor, Dental malocclusion, Foot ...	ORPHA:444072
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Pulmonary hypoplasia	ORPHA:2141
Wyburn-Mason Syndrome	Gingival bleeding, Epistaxis, Arteriovenous malformation, Abnormal cerebral vascular morphology, ...	ORPHA:53719
Cog5-Cdg	Wide nasal bridge, Joint contracture of the hand, Retrognathia, Seizure, Camptodactyly of finger,...	ORPHA:263487
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion	Seizure, Prominent nasal bridge, Inguinal hernia, Ventricular septal defect, Atrial septal defect...	ORPHA:261190
Intellectual Developmental Disorder, X-Linked 21	Mandibular prognathia, Seizure, Short nose, Joint hypermobility	OMIM:300143
Cutis Laxa, Autosomal Dominant 3	Osteopenia, Delayed cranial suture closure, Os odontoideum, Postnatal growth retardation, Intraut...	OMIM:616603
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Failure to thrive, Splenomegaly, Macrocytic anemia	OMIM:619046
Li-Campeau Syndrome	Seizure, Patellar hypoplasia, Patent foramen ovale, Ventricular septal defect, Single transverse ...	OMIM:619189
Spondylometaphyseal Dysplasia, Sedaghatian Type	Platyspondyly, Narrow chest, Cone-shaped epiphysis, Disproportionate short stature, Abnormal scap...	ORPHA:93317
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia	ORPHA:1116
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Micrognathia, Hip contra...	OMIM:210710
Whipple Disease	Insulin resistance, Hepatomegaly, Hypothyroidism, Splenomegaly	ORPHA:3452
Neuhauser Syndrome	Wide nasal bridge, Depressed nasal bridge, Osteopenia, Seizure, Micrognathia, Genu valgum, Primar...	OMIM:249310
Marbach-Rustad Progeroid Syndrome	Insulin resistance	OMIM:619322
Schimke Immuno-Osseous Dysplasia	Bone marrow hypocellularity, Growth delay, Abnormal proportion of naive CD4 T cells, Failure to t...	ORPHA:1830
Mucopolysaccharidosis, Type Iiia	Joint stiffness, Thickened ribs, Ovoid thoracolumbar vertebrae, Scoliosis, Dense calvaria	OMIM:252900
Genitopatellar Syndrome	Hypoplastic ilia, Delayed eruption of teeth, Seizure, Prominent nose, Micrognathia, Prominent nas...	ORPHA:85201
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Wide nasal bridge, Osteopenia, Failure to thrive, Underdeveloped nasal alae, Seizure, Abnormal he...	ORPHA:453499
Occipital Horn Syndrome	Platyspondyly, Pectus carinatum, Broad clavicles, Narrow chest, Persistent open anterior fontanel...	OMIM:304150
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence	OMIM:192445
Cutis Laxa, Autosomal Recessive, Type Iid	Wide nasal bridge, Retrognathia, Seizure, Narrow naris, Hypertrophic cardiomyopathy, Bulbous nose...	OMIM:617403
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Falls, Shoulder girdle muscle weakness, Slender build, Patent foramen ovale, Elevated circulating...	OMIM:615156
Dengue Fever	Gingival bleeding, Epistaxis, Hypotension, Gastrointestinal hemorrhage, Bruising susceptibility, ...	ORPHA:99828
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Wide nasal bridge, Short 5th finger, Short distal phalanx of finger, Seizure, Bulbous nose, Antev...	OMIM:220500
Thrombocytopenia-Absent Radius Syndrome	Broad thumb, Finger syndactyly, Tibial torsion, Cervical ribs, Fibular aplasia, Aplasia/hypoplasi...	ORPHA:3320
Woodhouse-Sakati Syndrome	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm...	ORPHA:3464
Hemophilia B	Prolonged bleeding after dental extraction, Intracranial hemorrhage, Spontaneous, recurrent epist...	ORPHA:98879
Tooth Agenesis, Selective, X-Linked, 1	Aplasia of the maxilla, Selective tooth agenesis, Tooth agenesis, Agenesis of molar, Agenesis of ...	OMIM:313500
Juvenile Xanthogranuloma	Myeloproliferative disorder	ORPHA:158000
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Disproportionate short stature, Lymphopenia, Leukopenia, Neutropenia, Schistocytosis, Anemia, Thr...	OMIM:301110
Autosomal Dominant Omodysplasia	Depressed nasal bridge, Rhizomelia, Short 1st metacarpal, Elbow dislocation, Micrognathia, Malar ...	ORPHA:93328
10Q22.3Q23.3 Microduplication Syndrome	Abnormal clavicle morphology, Abnormal rib morphology	ORPHA:276422
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial...	ORPHA:216694
15Q Overgrowth Syndrome	Wide nasal bridge, Microretrognathia, Retrognathia, Contracture of the proximal interphalangeal j...	ORPHA:314585
Bohring-Opitz Syndrome	Wide nasal bridge, Depressed nasal bridge, Congenital contracture, Retrognathia, Seizure, Limitat...	ORPHA:97297
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Wide nasal bridge, Cellulitis, Osteopenia, Delayed eruption of teeth, Increased circulating IgE l...	ORPHA:2314
Prune Belly Syndrome	Congenital hip dislocation, Vertebral segmentation defect, Talipes equinovarus, Abnormal rib morp...	ORPHA:2970
Dubowitz Syndrome	Aplastic anemia, Lymphoma, Postnatal growth retardation, Intrauterine growth retardation, Neurobl...	OMIM:223370
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Hypoplastic ilia, Narrow chest, Micromelia, Thoracic hypoplasia, Lateral clavicle hook, Horizonta...	OMIM:617895
Young-Onset Parkinson Disease	Depression, Hyposmia, Frontal lobe dementia, Gait imbalance, Short attention span, Restless legs,...	ORPHA:2828
Ehlers-Danlos Syndrome, Classic Type, 1	Cigarette-paper scars, Umbilical hernia, Inguinal hernia, Recurrent sinusitis, Mitral valve prola...	OMIM:130000
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Absent natural killer cells, Failure to thrive in infancy, Lymphopenia, Hepatosplenomegaly, Impai...	ORPHA:35078
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Focal impaired awareness seizure, Failure to thrive, Seizure, Infantile spasms, Joint hypermobili...	ORPHA:500533
Oculofaciocardiodental Syndrome	Tooth malposition, Abnormality of the dentition, Peripheral pulmonary artery stenosis, Delayed er...	ORPHA:2712
Mosaic Trisomy 8	Narrow chest, Limitation of joint mobility, Arthrogryposis multiplex congenita, Camptodactyly of ...	ORPHA:96061
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red...	OMIM:133100
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Rhizomelia, Failur...	OMIM:607143
Subependymal Nodular Heterotopia	Myelomeningocele, Meningocele, Occipital encephalocele, Nasofrontal encephalocele	ORPHA:101030
Craniorachischisis	Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly	ORPHA:63260
Microcephaly 26, Primary, Autosomal Dominant	Wide nasal bridge, Failure to thrive, Seizure, Febrile seizure (within the age range of 3 months ...	OMIM:619179
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Acute hepatic failure, Hyperglycemia, Elevated circulating hepatic transaminase concentration, Hy...	OMIM:615453
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Depressed nasal bridge, Osteopenia, Seizure, Abnormal heart valve morpholo...	ORPHA:363705
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Wide nasal bridge, Choanal atresia, Depressed nasal bridge, Small hand, Seizure, Bulbous nose, Pr...	OMIM:300968
Macrophage Activation Syndrome	Hemophagocytosis, Hepatitis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Neutropenia, Thrombocyt...	ORPHA:158061
Factor X Deficiency	Gingival bleeding, Epistaxis, Intracranial hemorrhage, Prolonged bleeding after surgery, Prolonge...	OMIM:227600
Trisomy 18P	Wide nasal bridge, Underdeveloped nasal alae, Intrauterine growth retardation, Micrognathia, Atte...	ORPHA:1715
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Periostitis, Broad ribs, Osteomyelitis, Joint swelling, Flaring of rib cage, Osteolys...	OMIM:612852
Fetal Cytomegalovirus Syndrome	Hepatitis, Intrauterine growth retardation, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia,...	ORPHA:294
Osteogenesis Imperfecta	Thin ribs, Abnormal tibia morphology, Enlarged vertebral pedicles, Genu valgum, Large fontanelles...	ORPHA:666
Ellis-Van Creveld Syndrome	Pectus carinatum, Capitate-hamate fusion, Postaxial foot polydactyly, Disproportionate short-limb...	OMIM:225500
Joubert Syndrome 37	Wide nasal bridge, Anteverted nares, Obesity, Wide nose, Lumbar hyperlordosis, Joint hypermobilit...	OMIM:619185
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocyto...	OMIM:616084
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Broad-based gait, Difficulty walking, Overlapping toe, Gait ataxia, Tented upper lip vermilion, H...	OMIM:617807
Spondyloepimetaphyseal Dysplasia, Krakow Type	Allergic rhinitis, Rhizomelia, Seizure, Elbow contracture, Irregular epiphyses, Sclerosis of skul...	OMIM:618162
Keppen-Lubinsky Syndrome	Failure to thrive, Underdeveloped nasal alae, Narrow naris, Seizure, Generalized lipodystrophy, N...	OMIM:614098
Multiple Pterygium-Malignant Hyperthermia Syndrome	Severe short stature, Ulnar deviation of finger, Finger syndactyly, Camptodactyly of finger, Hemi...	ORPHA:2215
Peho Syndrome	Retrognathia, Seizure, Myoclonus, Short nose, Tapered finger	OMIM:260565
Spinal Muscular Atrophy, Type I	Atrial septal defect, Ventricular septal defect	OMIM:253300
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Broad-based gait, Sandal gap, Abnormal heart morphology, Failure to thrive in infancy, Patent for...	ORPHA:477817
Neonatal Lupus Erythematosus	Aplastic anemia, Pancytopenia, Abnormality of the liver, Splenomegaly, Hepatomegaly, Neutropenia,...	ORPHA:398124
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Wide nasal bridge, Short 3rd metacarpal, Short 4th toe, Seizure, Short thumb, Muscular ventricula...	OMIM:618569
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Aortic valve stenosis, Clinodactyly, Long hallux, Overlapping toe, Ventricular septal defect, Dec...	OMIM:618164
Helsmoortel-Van Der Aa Syndrome	Small hand, Carious teeth, Genu valgum, Mitral valve prolapse, Atrial septal defect, Short nose, ...	OMIM:615873
Spondyloepiphyseal Dysplasia, Nishimura Type	Delayed epiphyseal ossification, Small hand, Elevated circulating parathyroid hormone level, Brac...	OMIM:618618
Congenital Neuronal Ceroid Lipofuscinosis	Wide nasal bridge, Myoclonic seizure, Seizure, Elevated circulating creatine kinase concentration...	ORPHA:168486
Desmosterolosis	Depressed nasal bridge, Abnormality of the nose, Retrognathia, Seizure, Failure to thrive, Increa...	ORPHA:35107
Congenital Myopathy 22B, Severe Fetal	Wide nasal bridge, Spinal rigidity, Tapered toe, Shoulder flexion contracture, Retrognathia, Slen...	OMIM:620369
Kaufman Oculocerebrofacial Syndrome	Depressed nasal bridge, Congenital hip dislocation, Carious teeth, Failure to thrive, Hypocholest...	OMIM:244450
Schinzel-Giedion Midface Retraction Syndrome	Aplasia/Hypoplasia of the pubic bone, Talipes equinovarus, Short neck, Atrial septal defect, Abno...	OMIM:269150
Tetrasomy 12P	Delayed eruption of teeth, Anteverted nares, Joint hypermobility, Cachexia, Short neck, Short nose	ORPHA:884
Coffin-Lowry Syndrome	Thick nasal septum, Decreased body weight, Short metacarpal, Short nose, Hyperextensibility of th...	OMIM:303600
Schisis Association	Anencephaly, Encephalocele, Spina bifida	ORPHA:63862
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Depressed nasal bridge, Broad-based gait, Failure to thrive, Hyperplasia of the maxilla, Generali...	ORPHA:513456
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Pulmonary hypoplasia	OMIM:618174
Faciocardiomelic Syndrome	Depressed nasal bridge, Osteopenia, Dental malocclusion, Slender long bone, Hyperplasia of the ma...	OMIM:612731
Sclerosteosis 1	Wide nasal bridge, Depressed nasal bridge, Abnormal pelvic girdle bone morphology, Dental maloccl...	OMIM:269500
Developmental And Epileptic Encephalopathy 102	Generalized myoclonic seizure, Inability to walk, Bilateral tonic-clonic seizure with focal onset...	OMIM:619881
Primary Dystonia, Dyt13 Type	Motor stereotypy	ORPHA:98807
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties	Wide nasal bridge, Broad-based gait, Underdeveloped nasal alae, Seizure, Inability to walk, Antev...	OMIM:616158
Developmental And Epileptic Encephalopathy 89	Wide nasal bridge, Depressed nasal bridge, Microretrognathia, Myoclonic seizure, Epileptic spasm,...	OMIM:619124
Mandibuloacral Dysplasia Progeroid Syndrome	Delayed cranial suture closure, Decreased fibular diameter, Generalized lipodystrophy, Dysplasia ...	OMIM:619127
Xk Aprosencephaly Syndrome	Abnormal morphology of the radius, Abnormal nostril morphology, Atrial septal defect, Ventricular...	ORPHA:3469
Short Stature, Microcephaly, And Endocrine Dysfunction	Insulin resistance, Hypothyroidism, Diabetes mellitus, Cryptorchidism	OMIM:616541
Micro Syndrome	Wide nasal bridge, Seizure, Anteverted nares, Micrognathia, Intrauterine growth retardation, Join...	ORPHA:2510
Gaucher Disease, Type I	Pancytopenia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Multiple myeloma	OMIM:230800
Primary Pulmonary Hypoplasia	Abnormal pulmonary artery morphology, Pneumothorax, Recurrent respiratory infections, Cleft palat...	ORPHA:2257
Autoinflammatory Disease, Systemic, X-Linked	Hepatosplenomegaly, Neutropenia, B lymphocytopenia	OMIM:301081
Nicolaides-Baraitser Syndrome	Wide nasal base, Broad 2nd toe, Short metacarpal, Short nose, Bulbous nose, Narrow nasal bridge, ...	OMIM:601358
Proteasome-Associated Autoinflammatory Syndrome 3	Failure to thrive, Lymphopenia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, An...	OMIM:617591
Mullegama-Klein-Martinez Syndrome	Wide nasal bridge, Depressed nasal bridge, Hypoplastic left heart, Failure to thrive, Bulbous nos...	OMIM:301022
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Wide nasal bridge, Precocious puberty, Dilated cardiomyopathy, Aplasia of the phalanges of the 3r...	ORPHA:2229
Congenitally Uncorrected Transposition Of The Great Arteries	Small for gestational age, Failure to thrive, Biventricular hypertrophy, Dextrotransposition of t...	ORPHA:860
Cold Agglutinin Disease	Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy	ORPHA:56425
Tafro Syndrome	Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocy...	ORPHA:457077
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Depressed nasal bridge, Underdeveloped nasal alae, Seizure, Anteverted nares, Micrognathia, Intra...	OMIM:619005
Microform Holoprosencephaly	Choanal atresia, Seizure, Tetralogy of Fallot, Panhypopituitarism, Narrow nasal bridge, Anteverte...	ORPHA:280200
Maternal Phenylketonuria	Wide nasal bridge, Hypoplastic left heart, Clinodactyly, Seizure, Abnormal heart morphology, Tetr...	ORPHA:2209
Congenital Myopathy 1B, Autosomal Recessive	High palate, Recurrent respiratory infections, Pulmonary hypoplasia	OMIM:255320
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Short distal phalanx of finger, Short thumb, Seizure, Preaxial hand polydactyly, Atrioventricular...	ORPHA:1120
Cleft Palate With Or Without Ankyloglossia, X-Linked	Bifid uvula, Ankyloglossia, Cleft palate	OMIM:303400
Immunodeficiency 10	Splenomegaly, Autoimmune hemolytic anemia, Abnormal lymphocyte count, Lymphadenopathy, Hepatomega...	OMIM:612783
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency	Epidural hemorrhage, Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after dental extr...	ORPHA:465
Wagro Syndrome	Dental crowding, Micrognathia, Emotional lability, Reduced social reciprocity, Low frustration to...	OMIM:612469
Marshall Syndrome	Radial bowing, Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Small proximal tibial e...	OMIM:154780
Mucopolysaccharidosis, Type Vi	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Hypoplastic iliac wing, Genu valgum, Di...	OMIM:253200
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Absence of lymph node germinal center, Ascites, Failure t...	ORPHA:79124
Microlissencephaly-Micromelia Syndrome	Abnormal circulating calcium-phosphate regulating hormone concentration, Failure to thrive, Seizu...	ORPHA:50810
Mesoaxial Hexadactyly And Cardiac Malformation	Ventricular septal defect, Hand polydactyly, Atrial septal defect, Abnormal 3rd finger morphology...	OMIM:249670
Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism	Elevated circulating hepatic transaminase concentration, Hypergonadotropic hypogonadism, Insulin-...	OMIM:268020
Glycosylphosphatidylinositol Biosynthesis Defect 11	Wide nasal bridge, Seizure, Umbilical hernia, Inguinal hernia, Tonic seizure, Focal-onset seizure	OMIM:616025
Pancreatic And Cerebellar Agenesis	Secundum atrial septal defect, Failure to thrive, Seizure, Hypoglycemia, Hyperglycemia, Joint sti...	OMIM:609069
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Hypoplasia of the premaxilla, Deformed humerus, Micrognathia, Mandibular condyle hypoplasia, Disl...	ORPHA:2975
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Wide nasal bridge, Carious teeth, Toe syndactyly, Hypoplasia of the zygomatic bone, Seizure, Fing...	ORPHA:3253
Noonan Syndrome 5	Depressed nasal bridge, Hypertrophic cardiomyopathy, Large for gestational age, Cubitus valgus, S...	OMIM:611553
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Dilated cardiomyopathy, Premature coronary artery atherosclerosis, Moyamoya phenomenon, Postnatal...	OMIM:300845
Gm1-Gangliosidosis, Type I	Severe short stature, Joint stiffness, Intrauterine growth retardation, Hypoplastic vertebral bod...	OMIM:230500
Abdominal Obesity-Metabolic Syndrome 3	Hyperglycemia, Type II diabetes mellitus	OMIM:615812
Nephronophthisis 9	Anemia, Postnatal growth retardation	OMIM:613824
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog...	ORPHA:3202
Raine Syndrome	Depressed nasal bridge, Choanal atresia, Natal tooth, Arthrogryposis multiplex congenita, Microme...	OMIM:259775
Ablepharon Macrostomia Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Toe syndactyly, Hypoplasia of the zygomatic bo...	ORPHA:920
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Depressed nasal bridge, Short distal phalanx of finger, Delayed eruption of teeth, Underdeveloped...	OMIM:615866
Congenital Factor X Deficiency	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h...	ORPHA:328
Acrofacial Dysostosis 1, Nager Type	Toe syndactyly, Clinodactyly, Overlapping toe, Micrognathia, Congenital diaphragmatic hernia, Ven...	OMIM:154400
Cerebral Creatine Deficiency Syndrome 1	Broad-based gait, Malar flattening, Reduced social reciprocity, Aggressive behavior, Attention de...	OMIM:300352
Hyperphosphatasia-Intellectual Disability Syndrome	Wide nasal bridge, Scoliosis, Clinodactyly, Seizure, Bulbous nose, Prominent nasal bridge, Microg...	ORPHA:247262
Radio-Renal Syndrome	Severe short stature, Micromelia, Abnormal form of the vertebral bodies, Short neck, Hypoplasia o...	ORPHA:3015
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Wide nasal bridge, Seizure, Intrauterine growth retardation, Joint hypermobility, Cervical C2/C3 ...	OMIM:617333
Monosomy 18P	Wide nasal bridge, Carious teeth, Micrognathia, Kyphoscoliosis, Short neck, Hypothyroidism, Brach...	ORPHA:1598
Abruzzo-Erickson Syndrome	Ulnar deviation of finger, Toe syndactyly, Short toe, Malar flattening, Radioulnar synostosis, At...	ORPHA:921
Bardet-Biedl Syndrome 9	Hyperglycemia	OMIM:615986
16P11.2P12.2 Microdeletion Syndrome	Microretrognathia, Toe syndactyly, Camptodactyly of finger, Bulbous nose, Anteverted nares, Intra...	ORPHA:261211
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Intestinal malrotation, Pulmonary hypoplasia	OMIM:601163
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Thin ribs, Block vertebrae, Supernumerary vertebrae, Short ribs, Rib fusion, Missing ribs, Short ...	OMIM:271520
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Abnormality of canine, Aplasia of the distal phalanx of the 5th toe, Microglossia, Underdeveloped...	ORPHA:364577
Khan-Khan-Katsanis Syndrome	Failure to thrive, Clinodactyly, Sacral dimple, Corneal scarring, Micrognathia, Intrauterine grow...	OMIM:618460
Spontaneous Periodic Hypothermia	Arrhythmia, Pallor	ORPHA:29822
Pfeiffer Syndrome Type 2	Deviation of the thumb, Depressed nasal bridge, Choanal atresia, Small hand, Limitation of joint ...	ORPHA:93259
20Q13.33 Microdeletion Syndrome	Abnormal cardiac ventricle morphology, Hip dislocation, Seizure, Failure to thrive in infancy, Bu...	ORPHA:261311
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly, Autoimmune...	OMIM:616100
Mucopolysaccharidosis, Type Iiic	Joint stiffness, Kyphoscoliosis, Ovoid thoracolumbar vertebrae, Beaking of vertebral bodies, Thic...	OMIM:252930
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Wide nasal bridge, Depressed nasal bridge, Broad long bones, Aplasia/Hypoplasia involving the pel...	ORPHA:163654
Macs Syndrome	Wide nasal bridge, Umbilical hernia, Micrognathia, Single transverse palmar crease, Decreased bod...	OMIM:613075
Childhood Absence Epilepsy	Punding, Attention deficit hyperactivity disorder, Depression, Abnormal social behavior	ORPHA:64280
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Lymphoma, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Neutropenia in presence of ...	ORPHA:436159
Chondrodysplasia Punctata 2, X-Linked Dominant	Abnormal pelvic girdle bone morphology, Rhizomelia, Postnatal growth retardation, Hemiatrophy, St...	OMIM:302960
Cryohydrocytosis	Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis	OMIM:185020
Desmosterolosis	Hypoplastic nasal bridge, Total anomalous pulmonary venous return, Joint contracture of the hand,...	OMIM:602398
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Left ventricular noncompaction, Slender build, Ventricular septal defect, Atrial septal defect, A...	OMIM:300967
Reticulum Cell Sarcoma	Sarcoma, Neoplasm	OMIM:267730
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Wide nasal bridge, Intrauterine growth retardation, Micrognathia, Myoclonus, Aplasia/Hypoplasia o...	ORPHA:1352
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Immunodeficiency 42	Hepatomegaly, Hypoplasia of the thymus, Splenomegaly	OMIM:616622
Otodental Syndrome	Abnormal dental pulp morphology, Carious teeth, Abnormal molar morphology, Delayed eruption of te...	ORPHA:2791
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Broad nasal tip, Microretrognathia, Seizure, Prominent nasal bridge, Ventricular septal defect, A...	ORPHA:457193
Timothy Syndrome	Depressed nasal bridge, Seizure, Hypoglycemia, Tetralogy of Fallot, Patent foramen ovale, Ventric...	OMIM:601005
Dyskeratosis Congenita, Autosomal Dominant 1	Bone marrow hypocellularity, Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leu...	OMIM:127550
Congenital Alpha2-Antiplasmin Deficiency	Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Hemothorax, Intracranial hemorrhag...	ORPHA:79
Congenital Disorder Of Glycosylation, Type Iiw	Pectus carinatum, Narrow chest, Bilateral choanal atresia, Underdeveloped nasal alae, Ankylogloss...	OMIM:619525
Femoral-Facial Syndrome	Toe syndactyly, Micrognathia, Humeroradial synostosis, Ventricular septal defect, Limited elbow m...	OMIM:134780
Laryngotracheoesophageal Cleft Type 4	Abnormal form of the vertebral bodies, Abnormal rib morphology	ORPHA:93941
Acrorenal-Mandibular Syndrome	Thin ribs, Hypoplastic scapulae, Toe syndactyly, Narrow chest, Abnormal sacral segmentation, Rudi...	OMIM:200980
Spherocytosis, Type 4	Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Choanal atresia, Hypoplasia of the maxilla, Carious teeth, Broad nasal tip, Toe syndactyly, Decre...	OMIM:129900
Cryptococcosis	Neoplasm, Peritonitis, Cirrhosis, Lymphoid leukemia, Mediastinal lymphadenopathy	ORPHA:1546
2Q37 Microdeletion Syndrome	Depressed nasal bridge, Small hand, Toe syndactyly, Broad columella, Underdeveloped nasal alae, F...	ORPHA:1001
Roifman-Chitayat Syndrome	Wide nasal bridge, Depressed nasal bridge, Osteopenia, Cone-shaped epiphysis, Umbilical hernia, S...	OMIM:613328
Basel-Vanagaite-Smirin-Yosef Syndrome	Retrognathia, Seizure, Anteverted nares, Inguinal hernia, Single transverse palmar crease, Ventri...	OMIM:616449
Ellis Van Creveld Syndrome	Intrauterine growth retardation, Acute leukemia, Failure to thrive, Neonatal short-limb short sta...	ORPHA:289
Kleefstra Syndrome Due To 9Q34 Microdeletion	Aortic valve stenosis, Failure to thrive, Generalized non-motor (absence) seizure, Seizure, Tetra...	ORPHA:96147
Acitretin/Etretinate Embryopathy	Hypoplastic nasal septum, Abnormality of the calcaneus, Atrioventricular canal defect, Anteverted...	ORPHA:40366
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Depression, Self-mutilation, Gait disturbance, Hip dysplasia, High palate, Motor stereotypy	ORPHA:457240
Short Stature, Developmental Delay, And Congenital Heart Defects	Self-injurious behavior, Attention deficit hyperactivity disorder, Motor stereotypy, Compulsive b...	OMIM:617044
Aminoacylase 1 Deficiency	Wide nasal bridge, Seizure, Bilateral tonic-clonic seizure	OMIM:609924
Meconium Aspiration Syndrome	Pneumothorax, Atelectasis, Aspiration pneumonia	ORPHA:70588
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Anemia, Hepatomegaly, Splenomegaly	OMIM:620296
Histiocytosis-Lymphadenopathy Plus Syndrome	Type I diabetes mellitus, Retrognathia, Clinodactyly, Camptodactyly of finger, Elbow flexion cont...	OMIM:602782
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin resistance, Breast aplasia	ORPHA:90153
Monosomy 9Q22.3	Palmar pits, Delayed eruption of teeth, Seizure, Umbilical hernia, Abnormality of the vertebral c...	ORPHA:77301
Fanconi Renotubular Syndrome 5	Emphysema, Pulmonary fibrosis, Lung adenocarcinoma	OMIM:618913
Bardet-Biedl Syndrome 1	Insulin resistance, Hepatic fibrosis, Hypogonadism, Decreased testicular size, Abnormality of the...	OMIM:209900
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ...	OMIM:274000
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Lambdoidal craniosynostosis, Ventricular septal defect, Bicuspid aortic valve, Talipes equinovaru...	ORPHA:352665
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Lambdoidal craniosynostosis, Ventricular septal defect, Bicuspid aortic valve, Talipes equinovaru...	ORPHA:453504
Au-Kline Syndrome	Overlapping toe, Thoracolumbar scoliosis, Short nose, Wide nasal ridge, Vertebral segmentation de...	OMIM:616580
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Retrognathia, Seizure, Thick nasal alae, Micrognathia, Short nose	ORPHA:163961
Seckel Syndrome 9	Intrauterine growth retardation, Micrognathia, Congenital diaphragmatic hernia, Ventricular septa...	OMIM:616777
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Absent natural killer cells, Failure to thrive, Lymphopenia, Absent peripheral lymph nodes in pre...	OMIM:600802
Witteveen-Kolk Syndrome	Flared nostrils, Small hand, Toe syndactyly, Clinodactyly, Hyperplasia of the maxilla, Overlappin...	OMIM:613406
Koolen-De Vries Syndrome Due To A Point Mutation	Slender build, Pear-shaped nose, Hand muscle atrophy, Ventricular septal defect, Focal hemiclonic...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Slender build, Pear-shaped nose, Hand muscle atrophy, Ventricular septal defect, Focal hemiclonic...	ORPHA:363958
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Small for gestational age, Failure to thrive, Micrognathia, Patent foramen ovale, Ventricular sep...	OMIM:208085
Plaa-Associated Neurodevelopmental Disorder	Postaxial foot polydactyly, Failure to thrive, Seizure, Contractures of the large joints, Microgn...	ORPHA:521426
Non-Distal Deletion 10Q	Wide nasal bridge, Overlapping fingers, Bilateral single transverse palmar creases, Gait disturba...	ORPHA:1581
17Q24.2 Microdeletion Syndrome	Wide nasal bridge, Otosclerosis, Broad thumb, Seizure, Upper limb undergrowth, Failure to thrive ...	ORPHA:529962
Neonatal Marfan Syndrome	Wide nasal bridge, Abnormal cardiac ventricle morphology, Micrognathia, Mitral valve prolapse, Jo...	ORPHA:284979
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg...	OMIM:603903
Campomelia, Cumming Type	Clubbing of toes, Micromelia, Abnormal thorax morphology, Bowing of the long bones, Brachydactyly...	ORPHA:1318
Neurooculocardiogenitourinary Syndrome	Seizure, Prominent nasal bridge, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, A...	OMIM:618652
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Failure to thrive, Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Erythroid hypoplasi...	OMIM:612541
Surfactant Metabolism Dysfunction, Pulmonary, 1	Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Int...	OMIM:265120
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Ventricular septal defect, Joint hypermobility, Arachnodactyly, Attention deficit hyperactivity d...	OMIM:301039
Hennekam-Beemer Syndrome	Wide nasal bridge, Failure to thrive, Seizure, Delayed cranial suture closure, Camptodactyly of f...	ORPHA:2135
Spherocytosis, Type 2	Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:616649
Van Der Woude Syndrome 2	Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate	OMIM:606713
Cebalid Syndrome	Depressed nasal bridge, Depressed nasal ridge, Seizure, Anteverted nares, Congenital diaphragmati...	OMIM:618774
Hurler Syndrome	Abnormal vertebral morphology, Abnormal epiphysis morphology, Growth delay, Abnormal diaphysis mo...	ORPHA:93473
Cardiofaciocutaneous Syndrome 1	Depressed nasal bridge, Osteopenia, Dental malocclusion, Failure to thrive, Seizure, Hypertrophic...	OMIM:115150
Gorlin Syndrome	Abnormal vertebral morphology, Vertebral wedging, Arachnodactyly, Rib fusion, Brachydactyly, Ante...	ORPHA:377
Orofaciodigital Syndrome Xv	Wide nasal bridge, Broad hallux, Anteverted nares, Duplication of phalanx of hallux, Postaxial ha...	OMIM:617127
Pmm2-Cdg	Increased circulating prolactin concentration, Hyperinsulinemia, Elevated circulating growth horm...	ORPHA:79318
Meier-Gorlin Syndrome 6	Depressed nasal bridge, Depressed nasal ridge, Microretrognathia, Failure to thrive, Underdevelop...	OMIM:616835
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Lymphopenia, Intrauterine growth retardation, Leukocytosis, Autoimmune hemolytic anemia, Interfac...	OMIM:243150
Weiss-Kruszka Syndrome	Dextrotransposition of the great arteries, Anteverted nares, Single transverse palmar crease, Ven...	OMIM:618619
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Hepatic fibrosis, Severe B lymphocytopenia, Exocrine pancreatic insufficiency, ...	OMIM:620005
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Aggressive behavior, Wide mouth, Reduced social reciprocity	OMIM:616083
22Q11.2 Duplication Syndrome	Depressed nasal ridge, Micrognathia, Smooth philtrum, Attention deficit hyperactivity disorder, C...	ORPHA:1727
Gastrointestinal Stromal Tumor	Neoplasm of the colon, Abnormality of the liver, Esophageal neoplasm, Neoplasm of the small intes...	ORPHA:44890
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Wide nasal bridge, Broad nasal tip, Seizure, Umbilical hernia, Bulbous nose, Overlapping toe, Man...	OMIM:620475
Fetal Valproate Spectrum Disorder	Depressed nasal ridge, Omphalocele, Short nose	ORPHA:1906
Cerebrofaciothoracic Dysplasia	Narrow chest, Vertebral segmentation defect, Rib fusion, Short neck, Sprengel anomaly, Bifid ribs...	ORPHA:1394
Buratti-Harel Syndrome	Bifid uvula, Recurrent pneumonia, Velopharyngeal insufficiency, Submucous cleft hard palate, High...	OMIM:619314
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Hepatosplenomegaly, Pallor, Reticulocytopenia, Dysplastic erythropoesis, Anisopoikilocytosis, Ane...	ORPHA:300298
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Splenomegaly, Jaundice	OMIM:619658
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hemophagocytosis, Failure to thrive, Leukopenia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thr...	OMIM:267700
Mucopolysaccharidosis Type 2	Mental deterioration, Limitation of joint mobility, Abnormal mitral valve morphology, Cognitive i...	ORPHA:580
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Overlapping toe, Avascular necrosis of the capital femoral epiphysis, Ventricular septal defect, ...	OMIM:614262
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Depressed nasal bridge, Hypoplasia of the zygomatic bone, Retrognathia, Sandal gap, Abnormal dent...	ORPHA:1812
Spastic Paraplegia 51, Autosomal Recessive	Wide nasal bridge, Seizure, Inability to walk, Bulbous nose, Talipes equinovarus, Long nose, Flex...	OMIM:613744
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Failure to thrive, Micrognathia, Inguinal hernia, Lethargy, Atrial septal defect	OMIM:614857
Carpenter Syndrome 2	Carious teeth, Broad thumb, Narrow naris, Cutaneous finger syndactyly, Talipes equinovarus, Short...	OMIM:614976
Prolidase Deficiency	Depressed nasal bridge, Failure to thrive, Febrile seizure (within the age range of 3 months to 6...	OMIM:170100
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Depressed nasal bridge, Mandibular prognathia, Head-banging, Unilateral cleft lip, Thick lower li...	OMIM:619103
Macrocephaly/Autism Syndrome	Lymphopenia, Obesity, Large for gestational age, Splenomegaly, Hepatomegaly	OMIM:605309
Maffucci Syndrome	Pituitary adenoma, Growth delay, Chondrosarcoma, Neoplasm of the parathyroid gland, Breast carcin...	ORPHA:163634
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects	Wide nasal bridge, Microretrognathia, Bulbous nose, Prominent nose, Joint hypermobility, Short cl...	OMIM:606220
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Choanal atresia, Hypoplasia of the maxilla, Carious teeth, Toe syndactyly, Hypoplastic sacrum, Ec...	OMIM:604292
8p23.1 deletion syndrome	Abnormal heart morphology, Congenital diaphragmatic hernia, Atrial septal defect, Atrioventricula...	DECIPHER:39
Spherocytosis, Type 1	Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:182900
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hemophagocytosis, Failure to thrive, Leukopenia, Hepatosplenomegaly, Pancytopenia, Splenomegaly, ...	OMIM:603553
Holoprosencephaly 2	Anterior pituitary agenesis, Proboscis, Seizure, Diabetes insipidus, Malar flattening, Aplasia of...	OMIM:157170
Chromosome 18P Deletion Syndrome	Wide nasal bridge, Depressed nasal ridge, Toe syndactyly, Radial deviation of finger, Anteverted ...	OMIM:146390
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Failure to thrive, Decreased circulating IgA level, Intrauterine growth retardation, Bicuspid aor...	OMIM:617744
Larsen Syndrome	Hypoplastic cervical vertebrae, Elbow dislocation, Ventricular septal defect, Talipes equinovarus...	OMIM:150250
Hutchinson-Gilford Progeria Syndrome	Aortic valve stenosis, Ventricular hypertrophy, Aortic valve calcification, Limitation of joint m...	ORPHA:740
Ventricular Septal Defect 1	Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe...	OMIM:614429
Propionic Acidemia	Cardiomyopathy, Pancytopenia, Cerebellar hemorrhage, Anemia, Neutropenia, Thrombocytopenia, Short...	OMIM:606054
Flat Face-Microstomia-Ear Anomaly Syndrome	Wide nasal bridge, Hypoplasia of the zygomatic bone, Underdeveloped nasal alae, Camptodactyly of ...	ORPHA:1968
Blepharonasofacial Malformation Syndrome	Wide nasal bridge, Finger syndactyly, Underdeveloped nasal alae, Inguinal hernia, Joint hypermobi...	ORPHA:1252
Recombinant 8 Syndrome	Depressed nasal bridge, Seizure, Camptodactyly of finger, Tetralogy of Fallot, Anteverted nares, ...	ORPHA:96167
Bartsocas-Papas Syndrome	Synostosis of joints, Toe syndactyly, Absent thumb, Finger syndactyly, Underdeveloped nasal alae,...	ORPHA:1234
Lipodystrophy, Familial Partial, Type 7	Insulin resistance, Type I diabetes mellitus, Small for gestational age, Failure to thrive, Decre...	OMIM:606721
Den Hoed-De Boer-Voisin Syndrome	Small hand, Carious teeth, Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Sa...	OMIM:619229
Congenital Disorder Of Glycosylation, Type Ii	Wide nasal bridge, Epileptic spasm, Infantile spasms, Joint hypermobility, Decreased body weight,...	OMIM:607906
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Depressed nasal bridge, Abnormal ilium morphology, Short distal phalanx of finger, Seizure, Antev...	OMIM:614080
Immunodeficiency 9	Lymphopenia, Hypoplasia of the thymus, Failure to thrive, Abnormal natural killer cell count	OMIM:612782
Lathosterolosis	Toe syndactyly, Postaxial foot polydactyly, Failure to thrive, Seizure, Bulbous nose, Anteverted ...	ORPHA:46059
Meckel Syndrome, Type 8	Depressed nasal ridge, Polydactyly, Talipes equinovarus, Short neck, Pericardial effusion, Short ...	OMIM:613885
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Wide nasal bridge, Broad-based gait, Broad nasal tip, Underdeveloped nasal alae, Seizure, Antever...	ORPHA:438216
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Small hand, Inability to walk, Micrognathia, Short attention span, Emotional lability, Reduced so...	ORPHA:300570
Achondrogenesis Type 2	Pulmonary hypoplasia, Pierre-Robin sequence	ORPHA:93296
Arterial Tortuosity Syndrome	Arachnodactyly, Hip dislocation, Short nose, Hypertrophic cardiomyopathy, Avascular necrosis of t...	ORPHA:3342
17Q11 Microdeletion Syndrome	Glioma, Brainstem glioma, Brain neoplasm, Leukemia, Cerebellar glioma, Plexiform neurofibroma, Gl...	ORPHA:97685
Cholestasis-Lymphedema Syndrome	Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,...	ORPHA:1414
Noonan Syndrome 4	Depressed nasal bridge, Dental malocclusion, Hypertrophic cardiomyopathy, Large for gestational a...	OMIM:610733
Sting-Associated Vasculopathy, Infantile-Onset	Failure to thrive, Lymphopenia, Leukopenia, Follicular hyperplasia, Thrombocytosis, Anemia, Parat...	OMIM:615934
Pseudo-Torch Syndrome 2	Petechiae, Bradycardia, Thrombocytopenia, Cerebral hemorrhage, Patent ductus arteriosus	OMIM:617397
Opitz Gbbb Syndrome	Wide nasal bridge, Natal tooth, Tracheomalacia, Umbilical hernia, Abnormal heart morphology, Ante...	ORPHA:2745
Aredyld Syndrome	Intrauterine growth retardation, Splenomegaly, Cachexia, Hepatomegaly, Short stature, Refractory ...	ORPHA:1133
Obesity, Hyperphagia, And Developmental Delay	Polyphagia, Motor stereotypy	OMIM:613886
Hurler-Scheie Syndrome	Hepatomegaly, Abnormality of the tonsils, Short stature, Splenomegaly	ORPHA:93476
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Depressed nasal bridge, Failure to thrive, Anteverted nares, Decreased circulating IgA level, Mic...	OMIM:242860
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Broad middle phalanx of finger, Short distal phalanx of the thumb, Decreased circulating total Ig...	ORPHA:221139
Wiedemann-Steiner Syndrome	Wide nasal bridge, Clinodactyly, Long philtrum, Clinodactyly of the 5th finger, Short attention s...	ORPHA:319182
Deeah Syndrome	Retrognathia, Seizure, Decreased response to growth hormone stimulation test, Panhypopituitarism,...	OMIM:619004
Noonan Syndrome 2	Leukemia, Acute lymphoblastic leukemia, Short stature, Patent ductus arteriosus	OMIM:605275
Brain Malformations With Or Without Urinary Tract Defects	Failure to thrive, Seizure, Anteverted nares, Inguinal hernia, Cognitive impairment, Metopic syno...	OMIM:613735
Difference Of Sex Development-Intellectual Disability Syndrome	Hypogonadism, Genu valgum, Short neck, Spina bifida occulta, Reduced bone mineral density, Kyphos...	ORPHA:2983
Familial Afibrinogenemia	Gingival bleeding, Epistaxis, Abnormal bleeding, Cerebral hemorrhage	ORPHA:98880
Basal Cell Nevus Syndrome 1	Short distal phalanx of the thumb, Vertebral wedging, Abnormal sternum morphology, Short ribs, Su...	OMIM:109400
Kleefstra Syndrome 1	Mandibular prognathia, Natal tooth, Persistence of primary teeth, Anteverted nares, Protruding to...	OMIM:610253
Erythrocytosis, Familial, 2	Hypotension, Varicose veins, Increased hematocrit, Increased red blood cell mass, Stroke, Increas...	OMIM:263400
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Retrognathia, Seizure, Camptodactyly of finger, Atrioventricular canal defect, Bulbous nose, Prom...	ORPHA:3047
Leukoencephalopathy With Calcifications And Cysts	Stroke, Cerebral hemorrhage	ORPHA:542310
Stormorken Syndrome	Epistaxis, Howell-Jolly bodies, Abnormal bleeding, Bruising susceptibility, Stroke-like episode, ...	OMIM:185070
Chromosome 1Q41-Q42 Deletion Syndrome	Cleft upper lip, Widely spaced teeth, Tented upper lip vermilion, Thin upper lip vermilion, Short...	OMIM:612530
Trisomy 12P	Wide nasal bridge, Micrognathia, Malar flattening, Short neck, Large hands, Clinodactyly of the 5...	ORPHA:1699
Cornelia De Lange Syndrome 6	Macrodontia of permanent maxillary central incisor, Pectus carinatum, Cleft lip, Short 1st metaca...	OMIM:620568
Autoerythrocyte Sensitization Syndrome	Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Abnormal erythrocyte morphology,...	ORPHA:324636
3-Methylglutaconic Aciduria, Type V	Dilated cardiomyopathy, Failure to thrive, Seizure, Intrauterine growth retardation, Noncompactio...	OMIM:610198
Mietens Syndrome	Wide nasal bridge, Elbow dislocation, Joint stiffness, Avascular necrosis of the capital femoral ...	ORPHA:2557
Developmental And Epileptic Encephalopathy 75	Wide nasal bridge, Cardiomyopathy, Seizure, Anteverted nares, Short nose	OMIM:618437
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Wide nasal bridge, Micrognathia, Malar flattening, Inguinal hernia, Ventricular septal defect, Th...	OMIM:235255
Mogs-Cdg	Decreased circulating IgG level, Retrognathia, Seizure, Decreased circulating IgA level, Overlapp...	ORPHA:79330
Chronic Visceral Acid Sphingomyelinase Deficiency	Cholelithiasis, Hypersplenism, Splenomegaly, Hepatomegaly, Neoplasm of the liver, Cirrhosis, Dela...	ORPHA:77293
Mucopolysaccharidosis-Plus Syndrome	Wide nasal bridge, Hypoalbuminemia, Inability to walk, Hypertrophic cardiomyopathy, Acetabular dy...	OMIM:617303
Cohen-Gibson Syndrome	Wide nasal bridge, Depressed nasal bridge, Osteopenia, Broad thumb, Retrognathia, Seizure, Umbili...	OMIM:617561
Immunodeficiency 23	Failure to thrive, Lymphopenia, Abscess, Hodgkin lymphoma, Eosinophilia, Neutropenia, Hemolytic a...	OMIM:615816
Cutis Laxa, Autosomal Recessive, Type Ic	Wide nasal bridge, Osteopenia, Morgagni diaphragmatic hernia, Retrognathia, Tracheomalacia, Umbil...	OMIM:613177
Choreoacanthocytosis	Mental deterioration, Temporomandibular joint crepitus, Emotional lability, Protruding tongue, Ha...	ORPHA:2388
Alg3-Cdg	Macroglossia, High palate, Abnormal uvula morphology, Pulmonary hypoplasia	ORPHA:79321
Leukocyte Adhesion Deficiency Type Ii	Wide nasal bridge, Depressed nasal ridge, Depressed nasal bridge, Failure to thrive, Seizure, Umb...	ORPHA:99843
Tempi Syndrome	Polycythemia, Increased hematocrit, Telangiectasia, Facial erythema, Intracranial hemorrhage	ORPHA:284227
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Insulin resistance, Precocious puberty, Premature adrenarche, Decreased response to growth hormon...	ORPHA:96182
Distal Deletion 6P	Depressed nasal bridge, Abnormal epiphysis morphology, Underdeveloped nasal alae, Anteverted nare...	ORPHA:96125
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormal vertebral morphology, Mental deterioration, Limitation of joint mobility, Abnormal mitra...	ORPHA:217093
Congenital Myopathy 11	Abnormal circulating creatine kinase concentration, Atrial septal defect, Patent foramen ovale, W...	OMIM:619967
Rabin-Pappas Syndrome	Wide nasal bridge, Broad nasal tip, Retrognathia, Seizure, Tracheomalacia, Failure to thrive in i...	OMIM:620155
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Broad-based gait, Joint contracture of the hand, Clinodactyly, Broad 2nd toe, Ventricular septal ...	OMIM:280000
Adult-Onset Still Disease	Bone marrow hypocellularity, Hepatitis, Leukocytosis, Splenomegaly, Hepatomegaly, Generalized lym...	ORPHA:829
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Myoclonus, Atrial septal defect, Seizure, Ataxia	OMIM:620094
Isolated Childhood Apraxia Of Speech	High, narrow palate, Submucous cleft hard palate	ORPHA:209908
Orofaciodigital Syndrome Type 2	Natal tooth, Short tibia, Finger syndactyly, Velopharyngeal insufficiency, Micrognathia, Broad fi...	ORPHA:2751
Hereditary Elliptocytosis	Cholelithiasis, Stomatocytosis, Postnatal growth retardation, Abnormal erythrocyte morphology, Co...	ORPHA:288
Mucopolysaccharidosis, Type Iiib	Joint stiffness, Thickened ribs, Ovoid thoracolumbar vertebrae, Dense calvaria	OMIM:252920
Cholestasis-Lymphedema Syndrome	Neonatal cholestatic liver disease, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice	OMIM:214900
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Chorea, Attention deficit hyperactivity disorder, Motor tics, Ataxia, Motor stereotypy	OMIM:619725
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Retrognathia, Seizure, Bulbous nose, Intrauterine growth retardation, Clinodactyly of the 5th fin...	OMIM:620113
3Q29 Microdeletion Syndrome	Failure to thrive, Prominent nasal bridge, Joint hypermobility, Attention deficit hyperactivity d...	ORPHA:65286
Rauch-Steindl Syndrome	Wide nasal bridge, Depressed nasal bridge, Long philtrum, Micrognathia, Aggressive behavior, Hype...	OMIM:619695
Noonan Syndrome	Juvenile myelomonocytic leukemia, Abnormality of the spleen, Postnatal growth retardation, Delaye...	ORPHA:648
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:617068
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Congenital hip dislocation, Myoclonic seizure, Arthrogryposis multiplex congenita, Failure to thr...	OMIM:619512
Non-Syndromic Metopic Craniosynostosis	Wide nasal bridge, Omphalocele	ORPHA:3366
Orofaciodigital Syndrome Type 14	Microretrognathia, Postaxial foot polydactyly, Broad hallux, Lobulated tongue, Hamartoma of tongu...	ORPHA:434179
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Narrow naris, Short neck, Short metacarpal, Short nose, Broad nasal tip, Obesity, Short attention...	OMIM:617157
Fibronectin Glomerulopathy	Hypertension, Cerebral hemorrhage	ORPHA:84090
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Broad-based gait, Emotional lability, Hair-pulling, Polyphagia, Prominent nasal tip, High palate,...	OMIM:620330
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa...	ORPHA:888
Lethal Congenital Contracture Syndrome 10	Narrow chest, Stiff neck, Broad ribs, Overlapping fingers, Femoral bowing, Intrauterine growth re...	OMIM:617022
Arachnoid Cyst	Spinal arachnoid cyst, Encephalocele, Subarachnoid hemorrhage, Abnormal spinal meningeal morpholo...	ORPHA:2356
Chediak-Higashi Syndrome	Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Hepatomegaly, Abnormal den...	OMIM:214500
Isolated Cleft Lip	Velopharyngeal insufficiency, Macrodontia, Supernumerary maxillary incisor, Hypodontia, Bilateral...	ORPHA:199302
Pfeiffer Syndrome Type 1	Depressed nasal bridge, Toe syndactyly, Broad thumb, Finger syndactyly, Bicoronal synostosis, Apl...	ORPHA:93258
7Q11.23 Microduplication Syndrome	Aortic valve stenosis, Micrognathia, Congenital diaphragmatic hernia, Ventricular septal defect, ...	ORPHA:96121
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Epistaxis, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Prolonged prothrombin time, Ce...	OMIM:277450
Jacobsen Syndrome	Depressed nasal bridge, Failure to thrive, Anteverted nares, Micrognathia, Intrauterine growth re...	OMIM:147791
Leptin Deficiency Or Dysfunction	Hypogonadism, Recurrent upper respiratory tract infections, Obesity, Decreased serum leptin	OMIM:614962
Cog1-Cdg	Posterior rib gap, Osteopenia, Rhizomelia, Postnatal growth retardation, Butterfly vertebrae, Ver...	ORPHA:263508
Idiopathic Chronic Eosinophilic Pneumonia	Hypersensitivity pneumonitis, Pleural effusion, Atelectasis	ORPHA:2902
Mungan Syndrome	Perimembranous ventricular septal defect, Pulmonic stenosis	OMIM:611376
Immunodeficiency With Hyper-Igm, Type 1	Absence of lymph node germinal center, Hepatitis, Failure to thrive, Chronic hepatitis, Splenomeg...	OMIM:308230
Orofaciodigital Syndrome Xiv	Microretrognathia, Natal tooth, Broad hallux, Cleft lip, Preaxial polydactyly, Hamartoma of tongu...	OMIM:615948
Pitt-Hopkins Syndrome	Flared nostrils, Wide nasal bridge, Small hand, Short fifth metatarsal, Clinodactyly, Seizure, Pr...	OMIM:610954
Odontochondrodysplasia 1	Dentinogenesis imperfecta, Delayed eruption of teeth, Long philtrum, Death in infancy, Recurrent ...	OMIM:184260
Mucopolysaccharidosis Type 2, Severe Form	Abnormal vertebral morphology, Mental deterioration, Limitation of joint mobility, Abnormal mitra...	ORPHA:217085
Noonan Syndrome 3	Short stature, Patent ductus arteriosus, Juvenile myelomonocytic leukemia	OMIM:609942
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Inc...	OMIM:194380
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Atelectasis, Cystic pattern on pulmonary HRCT, Recurrent respiratory infections, Pulmonary fibros...	OMIM:610978
Intellectual Developmental Disorder, Autosomal Dominant 48	Anteverted nares, Prominent nasal bridge, Open mouth, Hyperactivity, Low hanging columella, Motor...	OMIM:617751
Cerebral Visual Impairment	Intracranial hemorrhage, Ischemic stroke, Hydrocephalus	ORPHA:447788
Agammaglobulinemia 1, Autosomal Recessive	Rectal abscess, Failure to thrive, Neutropenia, B lymphocytopenia	OMIM:601495
Progressive Non-Infectious Anterior Vertebral Fusion	Wide nasal bridge, Depressed nasal bridge, Kyphosis, Abnormality of the vertebral column, Joint s...	ORPHA:2062
Meckel Syndrome, Type 4	Intrauterine growth retardation, Encephalocele, Hydrocephalus, Meningocele, Anencephaly	OMIM:611134
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Dilated cardiomyopathy, Obesity, Hypoketotic hypogly...	ORPHA:26793
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Esophageal carcinoma, Hepatitis, Lymphopenia, Hepatosplenomegaly, Autoimmune hemolytic anemia, Or...	ORPHA:391487
Enlarged Parietal Foramina	Myelomeningocele, Venous malformation, Occipital encephalocele, Abnormal cerebral vein morphology	ORPHA:60015
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Thoracic hypoplasia, Postnatal growth retardation, Overlapping toe, Intrauterine growth retardati...	ORPHA:254528
Meckel Syndrome, Type 2	Intrauterine growth retardation, Anencephaly, Encephalocele, Meningocele	OMIM:603194
Cardioacrofacial Dysplasia 2	Postaxial foot polydactyly, Atrioventricular canal defect, Genu valgum, Clinodactyly of the 5th f...	OMIM:619143
Geleophysic Dysplasia 1	Aortic valve stenosis, Joint contracture of the hand, Short palm, Short metacarpals with rounded ...	OMIM:231050
Acropectorovertebral Dysplasia	Spina bifida	ORPHA:957
Intellectual Developmental Disorder, Autosomal Recessive 71	Attention deficit hyperactivity disorder, Motor stereotypy, Increased overbite	OMIM:618504
Facial Paresis, Hereditary Congenital, 3	Depressed nasal bridge, Anteverted nares, Micrognathia, Short nose	OMIM:614744
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Supernumerary ri...	OMIM:612447
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Wide nasal bridge, Broad nasal tip, Broad hallux, Seizure, Atrial septal defect, Left unicoronal ...	OMIM:614749
Tetrasomy 15Q26	Microretrognathia, Intrauterine growth retardation, Kyphoscoliosis, Arachnodactyly, Atrial septal...	OMIM:614846
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P...	OMIM:185000
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Pulmonary hypoplasia, Stillbirth, Neonatal death	OMIM:236500
Isovaleric Acidemia	Cerebellar hemorrhage, Pancytopenia, Leukopenia, Thrombocytopenia	OMIM:243500
Chand Syndrome	Atelectasis, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Bifid tongue, Agenes...	ORPHA:1401
Fanconi Anemia, Complementation Group I	Absent thumb, Short 1st metacarpal, Short thumb, Decreased response to growth hormone stimulation...	OMIM:609053
Dyssegmental Dysplasia, Silverman-Handmaker Type	Wide nasal bridge, Anisospondyly, Micromelia, Micrognathia, Malar flattening, Neonatal death, Bow...	OMIM:224410
Muckle-Wells Syndrome	Splenomegaly, Hepatomegaly, Delayed puberty, Anemia, Short stature	ORPHA:575
Fetal Hydantoin Syndrome	Depressed nasal ridge, Short distal phalanx of finger, Intrauterine growth retardation, Hernia, T...	ORPHA:1912
Autosomal Recessive Multiple Pterygium Syndrome	Axillary pterygium, Popliteal pterygium, Limitation of joint mobility, Finger syndactyly, Arthrog...	ORPHA:2990
Immunodeficiency 31C	Growth delay, Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Weight loss, Delayed pubert...	OMIM:614162
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Bifid uvula, Depressed nasal bridge, Abnormality of the dentition, Inappropriate laughter, Wide m...	OMIM:615802
22Q11.2 Deletion Syndrome	Carious teeth, Micrognathia, Ventricular septal defect, Arachnodactyly, Talipes equinovarus, Shor...	ORPHA:567
Peroxisome Biogenesis Disorder 13A (Zellweger)	Wide nasal bridge, Depressed nasal bridge, Seizure, Micrognathia, Large fontanelles, Neonatal dea...	OMIM:614887
Intellectual Developmental Disorder, Autosomal Dominant 21	Sacral dimple, Incisor macrodontia, Atrial septal defect, Single transverse palmar crease	OMIM:615502
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Pulmonary hypoplasia	OMIM:616867
Split-Hand/Foot Malformation 1	Finger aplasia, Broad hallux, Ectrodactyly, Clinodactyly, Foot oligodactyly, Triphalangeal thumb,...	OMIM:183600
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Depressed nasal bridge, Hypoplasia of the maxilla, Underdeveloped nasal alae, Taurodontia, Rhinit...	OMIM:305100
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Depressed nasal bridge, Broad nasal tip, Valvular pulmonary stenosis, Toe syndactyly, 3-4 toe syn...	OMIM:300707
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short uvula, Agenesis of permanent teeth, Short lingual frenulum, Microdontia, Fused teeth, High ...	OMIM:614091
Pontocerebellar Hypoplasia, Type 8	Anteverted nares, Joint stiffness, Gait ataxia, Patent foramen ovale, Ventricular septal defect, ...	OMIM:614961
Primary Ciliary Dyskinesia	Atelectasis, Intestinal malrotation, Pulmonary situs ambiguus, Respiratory tract infection, Perib...	ORPHA:244
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Reduced subcutaneous adipose tissue, Short neck, Ataxia, Precocious puberty, Broad nasal tip, Tip...	OMIM:619950
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Wide nasal bridge, Depressed nasal bridge, Microretrognathia, Failure to thrive, Hypoglycemia, Ge...	OMIM:619418
Melanoma-Pancreatic Cancer Syndrome	Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Squamous cell carcino...	OMIM:606719
Hyperparathyroidism, Transient Neonatal	Thin ribs, Osteopenia, Fractured rib, Narrow chest, Metaphyseal spurs, Femoral bowing, Undulate r...	OMIM:618188
Combined Immunodeficiency Due To Crac Channel Dysfunction	Neoplasm, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic anemia	ORPHA:169090
Neurodegeneration With Brain Iron Accumulation 2A	Seizure, Micrognathia, Ataxia, Unsteady gait, Short nose	OMIM:256600
Cholestasis, Progressive Familial Intrahepatic, 1	Cholelithiasis, Failure to thrive, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodi...	OMIM:211600
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Wide nasal bridge, Dental malocclusion, Clinodactyly, Sandal gap, Broad hallux, Thick nasal alae,...	OMIM:618727
Drug-Induced Autoimmune Hemolytic Anemia	Congestive heart failure, Pallor, Splenomegaly, Autoimmune hemolytic anemia, Tachycardia	ORPHA:90037
Aymé-Gripp Syndrome	Depressed nasal bridge, Rocker bottom foot, Limitation of joint mobility, Reduced arm span, Seizu...	ORPHA:1272
Severe Congenital Nemaline Myopathy	Thin ribs, Abnormal thorax morphology, Large fontanelles, Adducted thumb, Multiple prenatal fract...	ORPHA:171430
Hemophagocytic Syndrome Associated With An Infection	Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Hepatomegaly, ...	ORPHA:158048
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Arachnodactyly, Micrognathia, Short nose, Delayed cranial suture closure	ORPHA:1129
Duane-Radial Ray Syndrome	Ventricular septal defect, Aplasia of metacarpal bones, Atrial septal defect, Small thenar eminen...	OMIM:607323
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Depressed nasal bridge, Anteverted nares, Intrauterine growth retardation, Ventricular septal def...	ORPHA:75389
Wolf-Hirschhorn Syndrome	Micrognathia, Ventricular septal defect, Radioulnar synostosis, Talipes equinovarus, Short hallux...	OMIM:194190
Global Developmental Delay With Or Without Impaired Intellectual Development	Bulbous nose, Atrial septal defect, Ventricular septal defect	OMIM:618330
Menkes Disease	Gastrointestinal hemorrhage, Spontaneous hematomas, Umbilical hernia, Dry skin, Intrauterine grow...	ORPHA:565
Craniometaphyseal Dysplasia	Wide nasal bridge, Depressed nasal bridge, Craniofacial hyperostosis, Osteopetrosis, Abnormal met...	ORPHA:1522
Sialuria	Wide nasal bridge, Memory impairment, Seizure, Long hallux, Joint hypermobility, 2-3 toe syndacty...	ORPHA:3166
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Depressed nasal bridge, Patent foramen ovale, Single transverse palmar crease, Kyphoscoliosis, To...	OMIM:620075
Idiopathic Pulmonary Hemosiderosis	Diffuse alveolar hemorrhage, Hepatosplenomegaly, Pallor, Iron deficiency anemia, Heart murmur	ORPHA:99931
Tricuspid Atresia	Hypoplasia of right ventricle, Cyanosis, Patent foramen ovale, Ventricular septal defect, Transpo...	ORPHA:1209
Vacterl/Vater Association	Aplasia/Hypoplasia of the radius, Finger syndactyly, Preaxial hand polydactyly, Intrauterine grow...	ORPHA:887
Renal Agenesis, Bilateral	Abnormal intestine morphology, Tracheoesophageal fistula, Non-midline cleft of the upper lip, Cle...	ORPHA:1848
Coenzyme Q10 Deficiency, Primary, 8	Pulmonary hypoplasia	OMIM:616733
Arthrogryposis, Distal, Type 12	Acroparesthesia, Dental crowding, High palate, Congenital finger flexion contractures, Hypoesthes...	OMIM:620545
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit...	ORPHA:53035
Familial Adenomatous Polyposis 1	Carious teeth, Odontoma, Eruption failure, Supernumerary tooth	OMIM:175100
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ba...	OMIM:276820
Intellectual Developmental Disorder, Autosomal Dominant 72	Spina bifida	OMIM:620439
Gabriele-De Vries Syndrome	Broad nasal tip, Tip-toe gait, Sandal gap, Intrauterine growth retardation, Micrognathia, Malar f...	OMIM:617557
Acquired Ichthyosis	Sarcoma, Neoplasm, Multiple myeloma, Lymphoma	ORPHA:454
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Absent thumb, Failure to thrive, Seizure, Infantile spasms, Tonic seizure, Atrial septal defect, ...	OMIM:619239
Joubert Syndrome 3	Wide nasal bridge, Anteverted nares, Atrial septal defect, Ataxia	OMIM:608629
Mucolipidosis Type Ii	Limitation of joint mobility, Abnormal mitral valve morphology, Hip contracture, Talipes equinova...	ORPHA:576
Coffin-Siris Syndrome 4	Wide nasal bridge, Depressed nasal bridge, Short 5th finger, Seizure, Thick nasal alae, Mitral at...	OMIM:614609
Autosomal Dominant Popliteal Pterygium Syndrome	Popliteal pterygium, Toe syndactyly, Finger syndactyly, Joint stiffness, Split hand, Abnormal rib...	ORPHA:1300
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Depressed nasal bridge, Clinodactyly, Bulbous nose, Patent foramen ovale, Talipes equinovarus, Sh...	OMIM:616789
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatic fibrosis, Lymphadenitis, Failure to thrive, Cholestasis, Leukocytosis, Splenomegaly, Hepa...	OMIM:615895
Intellectual Developmental Disorder, Autosomal Dominant 61	Wide nasal bridge, Attention deficit hyperactivity disorder, Prominent nasal bridge, Generalized ...	OMIM:618009
Fg Syndrome 5	Depressed nasal bridge, Anteverted nares, Short nose, Metopic synostosis	OMIM:300581
Lenz-Majewski Hyperostotic Dwarfism	Broad clavicles, Flared metaphysis, Aplasia/Hypoplasia of the middle phalanges of the hand, Delay...	OMIM:151050
Peho Syndrome	Limitation of joint mobility, Seizure, Anteverted nares, Infantile spasms, Malar flattening, Flex...	ORPHA:2836
Telangiectasia, Hereditary Hemorrhagic, Type 1	Pulmonary hemorrhage, Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, High-output c...	OMIM:187300
Cardiofaciocutaneous Syndrome	Depressed nasal bridge, Palmoplantar keratoderma, Hypoplasia of the zygomatic bone, Hypertrophic ...	ORPHA:1340
Wiedemann-Rautenstrauch Syndrome	Natal tooth, Clinodactyly, Micrognathia, Reduced subcutaneous adipose tissue, Talipes equinovarus...	OMIM:264090
Cholesteryl Ester Storage Disease	Hepatomegaly, Jaundice, Cirrhosis, Splenomegaly	ORPHA:75234
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Severe B lymphocytopenia, Abnormal lymphocyte morphology, Autoimmune thrombocytopenia, Failure to...	ORPHA:293978
Frontometaphyseal Dysplasia 2	Broad thumb, Hip contracture, Bicuspid aortic valve, Talipes equinovarus, Dislocated radial head,...	OMIM:617137
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Flared nostrils, Wide nasal bridge, Total anomalous pulmonary venous return, Dental malocclusion,...	ORPHA:487796
Developmental And Epileptic Encephalopathy 80	Wide nasal bridge, Short distal phalanx of finger, Failure to thrive, Seizure, Micrognathia, Tali...	OMIM:618580
Muscle-Eye-Brain Disease	Meningocele, Holoprosencephaly, Hydrocephalus	ORPHA:588
Elliptocytosis 1	Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis	OMIM:611804
Wildervanck Syndrome	Meningocele	ORPHA:3456
Microphthalmia, Syndromic 9	Wide nasal bridge, Hypoplastic left atrium, Tetralogy of Fallot, Intrauterine growth retardation,...	OMIM:601186
Birk-Barel Syndrome	Bifid uvula, Tented upper lip vermilion, Submucous cleft soft palate, High palate, Short philtrum	OMIM:612292
Glycogen Storage Disease Ixc	Postnatal growth retardation, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hepato...	OMIM:613027
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Portal fibrosis, Growth delay, Failure to thrive, Cholestasis, Splenomegaly, He...	ORPHA:264580
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Leukemia, Lymphoma, Severe short stature	ORPHA:2526
Humero-Radial Synostosis	Meningocele	ORPHA:3265
Jacobsen Syndrome	Aortic valve stenosis, Toe syndactyly, Finger syndactyly, Long hallux, Ventricular septal defect,...	ORPHA:2308
Aspergillosis	Stroke, Eosinophilia, Intracranial hemorrhage, Neutropenia	ORPHA:1163
Developmental And Epileptic Encephalopathy 90	Focal-onset seizure, Hypothyroidism, Atrial septal defect, Bilateral tonic-clonic seizure, Focal ...	OMIM:301058
Chromosome 17Q12 Duplication Syndrome	Smooth philtrum, Cleft soft palate, Esophageal atresia	OMIM:614526
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Dilated cardiomyopathy, Pulmonary embolism, Subdural hemorrhage, Intrauterine growth retardation,...	ORPHA:79282
Poikiloderma With Neutropenia	Depressed nasal bridge, Carious teeth, Palmoplantar keratoderma, Retrognathia, Underdeveloped nas...	OMIM:604173
Chromosome 3Q29 Duplication Syndrome	Wide nasal bridge, Bulbous nose, Obesity, Multiple palmar creases, Short nose	OMIM:611936
Down Syndrome	Short stature, Myeloproliferative disorder, Patent ductus arteriosus, Acute megakaryocytic leukemia	OMIM:190685
Glycogen Storage Disease Ixa1	Hepatomegaly, Growth delay, Splenomegaly	OMIM:306000
Williams-Beuren Syndrome	Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Radioulnar synostosis, A...	OMIM:194050
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Hydranencephaly, Tricuspid regurgitation, Retinal arterial tortuosity, Retinal hemorrhage, Spleni...	OMIM:620371
Surfactant Metabolism Dysfunction, Pulmonary, 2	Recurrent pneumonia, Intralobular septal thickening, Spontaneous pneumothorax, Intraalveolar phos...	OMIM:610913
Lateral Meningocele Syndrome	Dural ectasia, Tethered cord, Umbilical hernia, Syringomyelia, Aortic aneurysm, Hydrocephalus, Sh...	OMIM:130720
Nabais Sa-De Vries Syndrome, Type 1	Depressed nasal bridge, Sacral dimple, Bulbous nose, Prominent nasal bridge, Clinodactyly of the ...	OMIM:618828
Isolated Posterior Meningocele	Hydromyelia, Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Tethered co...	ORPHA:268810
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Attention deficit hyperactivity disorder, Depression, Motor stereotypy, Cognitive impairment	ORPHA:98784
Alg2-Cdg	Wide nasal bridge, Infantile spasms, Seizure	ORPHA:79326
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Depressed nasal ridge, Ataxia, Sacral lipoma, Absent nasal septal cartilage, Hip dislocation	ORPHA:2003
Pontocerebellar Hypoplasia, Type 17	Microretrognathia, Secundum atrial septal defect, Seizure, Intrauterine growth retardation, Ventr...	OMIM:619909
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Broad-based gait, Genu valgum, Large fontanelles, Ventricular septal defect, Decreased body weigh...	OMIM:619475
Combined Oxidative Phosphorylation Deficiency 25	Wide nasal bridge, Depressed nasal bridge, Failure to thrive, Anteverted nares, Reduced circulati...	OMIM:616430
Histidinuria-Renal Tubular Defect Syndrome	Wide nasal bridge, Rounded middle phalanx of finger, Short middle phalanx of finger, Hypoglycemia	ORPHA:2158
Nijmegen Breakage Syndrome	Glioma, Lymphoma, Rhabdomyosarcoma, Intrauterine growth retardation, Autoimmune hemolytic anemia,...	OMIM:251260
Aregenerative Anemia	Pancytopenia, Decreased proportion of CD4-positive helper T cells, Pallor, Abnormal proportion of...	ORPHA:101096
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Long philtrum, Gingival overgrowth, Smooth philtrum, Ataxia, Motor stereotypy, Hip dislocation	OMIM:619428
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hypoalbuminemia, Decreased circulating IgG level, Inability to walk, Abnormal heart morphology, H...	ORPHA:505248
Multifocal Atrial Tachycardia	Hypertrophic cardiomyopathy, Ventricular septal defect, Lethargy, Hypothyroidism, Atrial septal d...	ORPHA:3282
Gardner Syndrome	Abnormality of the dentition, Multiple unerupted teeth, Supernumerary tooth, Odontoma	ORPHA:79665
Hereditary Folate Malabsorption	Pancytopenia, Pallor, Eosinophilia, Megaloblastic anemia, Thrombocytopenia	ORPHA:90045
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Wide nasal bridge, Ankle flexion contracture, Microretrognathia, Retrognathia, Seizure, Camptodac...	ORPHA:468631
21Q22.11Q22.12 Microdeletion Syndrome	Acromesomelia, Clinodactyly, Seizure, Failure to thrive in infancy, Bulbous nose, Anteverted nare...	ORPHA:261323
Gitelman Syndrome	Insulin resistance, Type I diabetes mellitus, Graves disease, Glucose intolerance, Type II diabet...	ORPHA:358
Congenital Pulmonary Lymphangiectasia	Ascites, Hepatomegaly, Growth delay, Splenomegaly	ORPHA:2414
Chronic Thromboembolic Pulmonary Hypertension	Obesity, Myeloproliferative disorder, Neoplasm	ORPHA:70591
Dermotrichic Syndrome	Abnormal vertebral morphology, Depressed nasal bridge, Seizure, Short nose	ORPHA:99688
Dend Syndrome	Hyperglycemia	ORPHA:79134
Oculoskeletodental Syndrome	Wide nasal bridge, Broad columella, Elbow flexion contracture, Hypothyroidism, Scoliosis, Short f...	OMIM:618440
Sialuria	Wide nasal bridge, Seizure, Long hallux, Inguinal hernia, 2-3 toe syndactyly, Attention deficit h...	OMIM:269921
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Depressed nasal bridge, Osteopenia, Slender long bone, Seizure, Malar flattening, Joint hypermobi...	OMIM:618590
Letterer-Siwe Disease	Hepatosplenomegaly, Pallor, Neutropenia, Thrombocytopenia, Anemia	OMIM:246400
Benign Samaritan Congenital Myopathy	Wide nasal bridge, Lethargy	ORPHA:324581
Simosa Craniofacial Syndrome	Wide nasal bridge, Underdeveloped nasal alae, Depressed nasal tip, Malar flattening, Inguinal her...	OMIM:182150
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Wide nasal bridge, Broad nasal tip, Seizure, Micrognathia, Prominent nasal bridge, Decreased body...	OMIM:300749
Retinitis Pigmentosa 51	Pallor	OMIM:613464
Polysyndactyly With Cardiac Malformation	Preaxial hand polydactyly, Anteverted nares, Ventricular septal defect, Duplication of phalanx of...	OMIM:263630
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Neutrophilia, Hepatitis, Intrauterine growth retardation, Leukocytosis, Autoimmune hemolytic anem...	OMIM:620565
Fryns Syndrome	Wide nasal bridge, Short distal phalanx of finger, Seizure, Tetralogy of Fallot, Anteverted nares...	ORPHA:2059
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Seizure, Knee flexion contracture, Ventricular septal defect, Postaxial polydactyly, Thoracic sco...	OMIM:603387
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Wide nasal base, Flared nostrils, Small hand, Limitation of joint mobility, Difficulty walking, O...	ORPHA:480880
3Mc Syndrome	Caudal appendage, Postnatal growth retardation, Spina bifida occulta, Radioulnar synostosis, Prom...	ORPHA:293843
47,Xyy Syndrome	Finger clinodactyly, Malar flattening, Reduced social reciprocity, Attention deficit hyperactivit...	ORPHA:8
Cadds	Seizure, Intrauterine growth retardation, Micrognathia, Adrenal hypoplasia, Short nose	ORPHA:369942
Myopathic Ehlers-Danlos Syndrome	Pallor	ORPHA:536516
Trichothiodystrophy 1, Photosensitive	Decreased circulating IgG level, Retrognathia, Hypogonadism, Absence of subcutaneous fat, Flexion...	OMIM:601675
Wolcott-Rallison Syndrome	Hypoalbuminemia, Neonatal insulin-dependent diabetes mellitus, Central hypothyroidism, Seizure, D...	ORPHA:1667
Rhombencephalosynapsis	Microretrognathia, Finger syndactyly, Anteverted nares, Polydactyly, Ataxia, Short phalanx of fin...	ORPHA:59315
Aica-Ribosiduria Due To Atic Deficiency	Secundum atrial septal defect, Seizure, Hypoglycemia, Anteverted nares, Prominent nasal bridge, P...	OMIM:608688
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Narrow chest, Thoracic dysplasia, Irregular epiphyses, Hypoplastic iliac wing, Hypoplastic pelvis...	OMIM:208500
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Small hand, Broad femoral neck, Distal shortening of limbs, Thickened cortex of long ...	ORPHA:488434
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Depressed nasal bridge, Malar flattening, Hypoplasia of the zygomatic bone, Short nose	ORPHA:2835
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Decreased erythrocyte fructose-1,...	OMIM:611881
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Wide nasal bridge, Failure to thrive, Intrauterine growth retardation, Anteverted nares, Bilatera...	ORPHA:50812
Osteopetrosis, Autosomal Recessive 1	Failure to thrive, Pancytopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:259700
Blepharophimosis With Ptosis, Syndactyly, And Short Stature	Wide nasal bridge, Anosmia, Cutaneous finger syndactyly, Mandibular prognathia	OMIM:210745
Aicardi-Goutières Syndrome	Neonatal alloimmune thrombocytopenia, Hepatosplenomegaly, Chronic lymphatic leukemia, Cardiomegal...	ORPHA:51
Ctcf-Related Neurodevelopmental Disorder	Macrodontia of permanent maxillary central incisor, Osteopenia, Broad nasal tip, Failure to thriv...	ORPHA:363611
Fetal Akinesia Deformation Sequence	Cleft palate, Intestinal hypoplasia, Pulmonary hypoplasia	ORPHA:994
Isolated Sedoheptulokinase Deficiency	Postprandial hyperglycemia, Cholestatic liver disease, Hepatitis, Cholestasis, Portal hypertension	ORPHA:440713
Dravet Syndrome	Pallor	ORPHA:33069
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Abnormal vertebral morphology, Small hand, Tracheomalacia, Hypoplasia of proximal radius, Abnorma...	ORPHA:444077
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Wide nasal bridge, Depressed nasal bridge, Hair-pulling, Irritability, Dysphagia, Hyperactivity, ...	ORPHA:447997
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombo...	ORPHA:540
Fryns Syndrome	Wide nasal bridge, Short distal phalanx of finger, Joint contracture of the hand, Microretrognath...	OMIM:229850
Fryns Microphthalmia Syndrome	Neural tube defect	OMIM:600776
Ayme-Gripp Syndrome	Wide nasal bridge, Depressed nasal bridge, Craniofacial asymmetry, Seizure, Delayed cranial sutur...	OMIM:601088
Metachromatic Leukodystrophy, Adult Form	Memory impairment, Depression, Progressive psychomotor deterioration, Difficulty walking, Chorea,...	ORPHA:309271
Pseudo-Torch Syndrome 1	Failure to thrive, Splenomegaly, Thrombocytopenia, Hepatomegaly, Jaundice, Patent ductus arteriosus	OMIM:251290
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Small for gestational age, Atrial septal defect, Hypoglycemia	OMIM:615160
Cerebral Amyloid Angiopathy, App-Related	Tortuous cerebral arteries, Cerebral ischemia, Stroke, Subarachnoid hemorrhage, Recurrent cerebra...	OMIM:605714
Blomstrand Lethal Chondrodysplasia	Synostosis of joints, Depressed nasal bridge, Mesomelia, Rhizomelia, Natal tooth, Metaphyseal cup...	ORPHA:50945
Diamond-Blackfan Anemia 1	Increased mean corpuscular volume, Congestive heart failure, Persistence of hemoglobin F, Elevate...	OMIM:105650
Intellectual Developmental Disorder, Autosomal Dominant 58	Wide nasal bridge, Broad nasal tip, Falls, Seizure, Inguinal hernia, Single transverse palmar cre...	OMIM:618106
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Wide nasal bridge, Anteverted nares, Micrognathia, Large fontanelles	OMIM:602562
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Postnatal growth retardation, Splenomegaly, Increased body weight, Hepatomegaly...	ORPHA:79240
Syndromic Diarrhea	Hepatic fibrosis, Small for gestational age, Lymphopenia, Abnormality of the liver, Intrauterine ...	ORPHA:84064
Wars2-Related Combined Oxidative Phosphorylation Defect	Wide nasal bridge, Cardiomyopathy, Seizure, Difficulty walking, Intrauterine growth retardation, ...	ORPHA:572798
Williams Syndrome	Synostosis of joints, Carious teeth, Micrognathia, Type II diabetes mellitus, Genu valgum, Mitral...	ORPHA:904
Wrinkly Skin Syndrome	Carious teeth, Atrial septal dilatation, Progressive cerebellar ataxia, Osteopenia, Broad nasal t...	ORPHA:2834
Endocrine-Cerebroosteodysplasia	Wide nasal bridge, Natal tooth, Sandal gap, Micromelia, Preaxial polydactyly, Depressed nasal tip...	OMIM:612651
16P13.11 Microdeletion Syndrome	Depressed nasal bridge, Camptodactyly of finger, Generalized-onset seizure, Anteverted nares, Met...	ORPHA:261236
Neurodevelopmental Disorder With Spasticity And Poor Growth	Myoclonic seizure, Bilateral coxa valga, Failure to thrive, Seizure, Prominent nose, Anteverted n...	OMIM:618076
Noonan Syndrome 1	Juvenile myelomonocytic leukemia, Failure to thrive in infancy, Postnatal growth retardation, Ame...	OMIM:163950
Phosphoribosylaminoimidazole Carboxylase Deficiency	Lumbar hemivertebrae, Depressed nasal bridge, Choanal atresia, Bilateral choanal atresia, Antever...	OMIM:619859
Scarf Syndrome	Wide nasal bridge, Lambdoidal craniosynostosis, Coronal craniosynostosis, Abnormal form of the ve...	OMIM:312830
Liver Disease, Severe Congenital	Dilatation of the ventricular cavity, Micrognathia, Ventricular septal defect, Atrial septal defe...	OMIM:619991
Mixed-Type Autoimmune Hemolytic Anemia	Pallor, Autoimmune hemolytic anemia	ORPHA:90036
Momo Syndrome	Wide nasal bridge, Dental malocclusion, Delayed eruption of teeth, Obesity, Taurodontia, Short st...	OMIM:157980
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Hydrocephalus, Abnormal spinal cord morphology	ORPHA:99947
American Trypanosomiasis	Cardiomyopathy, Congestive heart failure, Pallor, Splenomegaly, Arrhythmia, Myocarditis	ORPHA:3386
Microcephaly 30, Primary, Autosomal Recessive	Thin upper lip vermilion, Cleft soft palate, Pierre-Robin sequence	OMIM:620183
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy...	OMIM:228930
Split-Hand/Foot Malformation 6	Finger aplasia, Toe syndactyly, Finger syndactyly, Foot oligodactyly, Split hand, Split foot	OMIM:225300
Plummer-Vinson Syndrome	Iron deficiency anemia, Pallor, Hypochromic microcytic anemia	ORPHA:54028
Smith-Lemli-Opitz Syndrome	Postaxial foot polydactyly, Overlapping toe, Micrognathia, Ventricular septal defect, Atrial sept...	OMIM:270400
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Acral ulceration, Skin ulcer, Abnormal spinal cord morphology	ORPHA:139578
Joubert Syndrome 28	Wide nasal bridge, Joint hypermobility, Ataxia	OMIM:617121
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Limb-Mammary Syndrome	Toe syndactyly, Oligodactyly, Malar flattening, Clinodactyly of the 5th finger, 3-4 finger cutane...	ORPHA:69085
Renal-Hepatic-Pancreatic Dysplasia 2	Pulmonary hypoplasia, Abnormal lung lobation, Stillbirth	OMIM:615415
Telangiectasia, Hereditary Hemorrhagic, Type 2	Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, Polycythemia, Facial telangiectasia...	OMIM:600376
Meckel Syndrome 12	Wide nasal bridge, Intrauterine growth retardation, Anteverted nares, Micrognathia, Rocker bottom...	OMIM:616258
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Rhizomelia, Narrow chest, Short tibia, Unicoronal synostosis, Preaxial polydactyly, Hypoplastic p...	OMIM:616300
Orofaciodigital Syndrome Type 1	Wide nasal bridge, Choanal atresia, Cone-shaped epiphysis, Deviation of finger, Hypoplasia of the...	ORPHA:2750
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Interrupted aortic arch, Anemia, Hydrocephalus, Thrombocytopenia, Short stature, Heart murmur, In...	ORPHA:163979
Cardiospondylocarpofacial Syndrome	Carpal synostosis, Congenital diaphragmatic hernia, Ventricular septal defect, Atrial septal defe...	OMIM:157800
Kaposiform Lymphangiomatosis	Epistaxis, Abnormal bleeding, Bruising susceptibility, Hepatosplenomegaly, Splenomegaly, Abnormal...	ORPHA:464329
Floating-Harbor Syndrome	Carious teeth, Broad thumb, Short neck, Atrial septal defect, Broad fingertip, Dislocated radial ...	OMIM:136140
Lathosterolosis	2-3 toe cutaneous syndactyly, Postaxial foot polydactyly, 2-4 toe cutaneous syndactyly, Anteverte...	OMIM:607330
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	High, narrow palate, Hypodontia, Glossoptosis, Submucous cleft hard palate	ORPHA:3201
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Neonatal death, Tracheoesophageal fistula, Esophageal atresia, Anal atresia, Pulmonary hypoplasia	OMIM:314390
Isolated Permanent Neonatal Diabetes Mellitus	Neonatal insulin-dependent diabetes mellitus, Glycosuria, Pancreatic hypoplasia, Hyperglycemia, R...	ORPHA:99885
Telangiectasia, Hereditary Hemorrhagic, Type 4	Arteriovenous fistulas of celiac and mesenteric vessels, Right-to-left shunt, Tongue telangiectas...	OMIM:610655
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Wide nasal bridge, Dental malocclusion, Umbilical hernia, Micrognathia, Malar flattening, Hypothy...	ORPHA:85321
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Microretrognathia, Delayed cranial suture closure, Umbilical hernia, Atrophic scars, Short colume...	OMIM:601776
Pontocerebellar Hypoplasia, Type 7	Wide nasal bridge, Broad nasal tip, Seizure, Micrognathia, Myoclonus, Single transverse palmar cr...	OMIM:614969
Trichorhinophalangeal Syndrome, Type Ii	Carious teeth, Hyperplasia of the maxilla, Micrognathia, Lumbar scoliosis, Bicuspid aortic valve,...	OMIM:150230
Monosomy 9P	Depressed nasal bridge, Choanal atresia, Limitation of joint mobility, Abnormality of the vertebr...	ORPHA:261112
Kinsship Syndrome	Ankyloglossia, Micrognathia, Dislocated radial head, Motor stereotypy, Hip dislocation, Downturne...	OMIM:619297
Rett Syndrome	Failure to thrive, Seizure, Difficulty walking, Inability to walk, Increased serum leptin, Gait d...	ORPHA:778
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Carious teeth, Natal tooth, Clinodactyly, Micrognathia, Aplasia of the thymus, Atrial septal defe...	OMIM:620186
Waardenburg Syndrome Type 1	Wide nasal bridge, Mandibular prognathia, Underdeveloped nasal alae, Scoliosis, Short nose	ORPHA:894
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Lumbar hyperlordosis, Equinus calcaneus, Joint hypermobility, 2-3 toe syndactyly, Prominent nasal...	ORPHA:522077
Fountain Syndrome	Short stature, Spina bifida occulta, Spina bifida, Erythema	ORPHA:3219
W Syndrome	Depressed nasal bridge, Upper lip pit, Broad nasal tip, Broad uvula, Radial bowing, Clinodactyly,...	ORPHA:2804
15q26 overgrowth syndrome	Wide nasal bridge, Camptodactyly of finger, Bulbous nose, Prominent nose, Micrognathia, Joint hyp...	DECIPHER:81
Trisomy 8Q	Wide nasal bridge, Camptodactyly of finger, Joint stiffness, Micrognathia, Deep palmar crease, Sh...	ORPHA:1752
15Q11.2 Microdeletion Syndrome	Total anomalous pulmonary venous return, Memory impairment, Seizure, Abnormal heart morphology, T...	ORPHA:261183
Mitochondrial Trifunctional Protein Deficiency 2	Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Neonatal deat...	OMIM:620300
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Thin ribs, Osteopenia, Thin metatarsal cortices, Thin metacarpal cortices, Lumbar hemivertebrae, ...	ORPHA:2463
Brain-Lung-Thyroid Syndrome	Falls, Failure to thrive, Elevated circulating thyroid-stimulating hormone concentration, Congeni...	ORPHA:209905
Necrotizing Enterocolitis	Hyperglycemia, Peritonitis, Abnormal glucose homeostasis	ORPHA:391673
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Flexion contracture of toe, Small hand, Microretrognathia, Proportionate shortening of all digits...	ORPHA:280633
Acute Radiation Syndrome	Lymphopenia, Granulocytopenia, Thrombocytopenia	ORPHA:454831
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Slender build, Ventricular septal defect, Atrial septal defect, Anterior pituitary hypoplasia, At...	ORPHA:466791
Leukocyte Adhesion Deficiency	Bone marrow hypocellularity, Abnormality of neutrophil physiology, Recurrent tonsillitis, Polycyt...	ORPHA:2968
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Broad-based gait, Internally rotated shoulders, Micrognathia, Reduced subcutaneous adipose tissue...	OMIM:619503
Cerebrocostomandibular Syndrome	Posterior rib gap, Congenital hip dislocation, Thoracic hypoplasia, Rib gap, Elbow flexion contra...	OMIM:117650
Rheumatic Fever	Epistaxis, Erythema, Pallor, Arrhythmia, Myocarditis, Pericarditis	ORPHA:3099
8P11.2 Deletion Syndrome	Depressed nasal bridge, Anosmia, Seizure, Hypogonadism, Micrognathia, Mitral valve prolapse, Hypo...	ORPHA:251066
Platyspondylic Dysplasia, Torrance Type	Cleft palate, Pulmonary hypoplasia	ORPHA:85166
9q subtelomeric deletion syndrome	Abnormal heart morphology, Anteverted nares, Short nose	DECIPHER:52
Vater/Vacterl Association	Abnormal vertebral morphology, Short thumb, Abnormal rib morphology, Preaxial polydactyly, Abnorm...	OMIM:192350
Schuurs-Hoeijmakers Syndrome	Seizure, Bulbous nose, Patent foramen ovale, Bicuspid aortic valve, Abnormal cardiac septum morph...	OMIM:615009
Spinocerebellar Ataxia-Dysmorphism Syndrome	Slender long bone, Anteverted nares, Joint hypermobility, Cubitus valgus, Spina bifida occulta, R...	ORPHA:1185
Developmental And Epileptic Encephalopathy 18	Generalized non-motor (absence) seizure, Generalized-onset seizure, Focal-onset seizure, Tonic se...	OMIM:615476
19P13.13 Microdeletion Syndrome	Depressed nasal bridge, Clinodactyly, Seizure, Sandal gap, Anteverted nares, Malar flattening, At...	ORPHA:357001
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Abnormal pulmonary interstitial morphology, Atelectasis, Pleural effusion, Thin upper lip vermili...	OMIM:620233
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Depressed nasal bridge, Broad nasal tip, Decreased response to growth hormone stimulation test, D...	OMIM:618223
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Wide nasal bridge, Microretrognathia, Hypoplasia of the zygomatic bone, Seizure, Sacral dimple, S...	OMIM:613603
Amish Lethal Microcephaly	Cleft soft palate, Death in infancy	ORPHA:99742
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Depressed nasal bridge, Seizure, Finger clinodactyly, Malar flattening, Brachydactyly, Camptodact...	OMIM:601353
Faciodigitogenital Syndrome, Autosomal Recessive	Dental malocclusion, Anteverted nares, Prominent nasal bridge, Clinodactyly of the 5th finger, In...	OMIM:227330
Hyper-Igd Syndrome	Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Renal angiomyolipoma, Lymphadenopa...	OMIM:260920
Extracranial Carotid Artery Aneurysm	Vasculitis, Total anomalous pulmonary venous return, Arteritis, Atherosclerosis, Cerebral ischemi...	ORPHA:494424
Gracile Bone Dysplasia	Thin ribs, Slender long bone, Flared metaphysis, Decreased skull ossification, Brachydactyly, Sho...	OMIM:602361
Trichothiodystrophy 4, Nonphotosensitive	Retrognathia, Anteverted nares, Ventricular septal defect, Hypoplasia of teeth, Short nose	OMIM:234050
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Medial calcification of large arteries, Medial calcification of medi...	OMIM:177850
Pfeiffer Syndrome Type 3	Depressed nasal bridge, Choanal atresia, Small hand, Limitation of joint mobility, Tracheomalacia...	ORPHA:93260
Sporadic Pheochromocytoma/Secreting Paraganglioma	Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo...	ORPHA:276621
Gm1-Gangliosidosis, Type Ii	Failure to thrive, Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Patent ductus arteriosus	OMIM:230600
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Wide nasal bridge, Rhizomelia, Short iliac bones, Acetabular spurs, Broad long bone diaphyses, In...	OMIM:614376
Aorta Coarctation	Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ...	ORPHA:1457
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Wide nasal bridge, Small hand, Myoclonic seizure, Secundum atrial septal defect, Failure to thriv...	OMIM:620455
Teebi-Shaltout Syndrome	Wide nasal bridge, Aortic valve stenosis, Broad nasal tip, Caudal appendage, Underdeveloped nasal...	OMIM:272950
Chronic Granulomatous Disease	Splenomegaly, Hepatomegaly, Abnormality of neutrophils, Mediastinal lymphadenopathy, Liver abscess	ORPHA:379
Alpha-1-Antitrypsin Deficiency	Emphysema, Bronchiectasis, Bronchitis	ORPHA:60
Scarf Syndrome	Pectus carinatum, Abnormal form of the vertebral bodies, Joint hypermobility, Short sternum, Shor...	ORPHA:3134
Ebola Hemorrhagic Fever	Hepatitis, Lymphopenia, Leukopenia, Thrombocytopenia, Acute pancreatitis	ORPHA:319218
Chromosome 6Q24-Q25 Deletion Syndrome	Small hand, Prominent fingertip pads, Sandal gap, Anteverted nares, Intrauterine growth retardati...	OMIM:612863
Dihydropyrimidine Dehydrogenase Deficiency	Epiphyseal dysplasia, Depressed nasal bridge, Delayed eruption of teeth, Retrognathia, Inability ...	ORPHA:1675
Familial Hyperaldosteronism Type I	Epistaxis, Intracranial hemorrhage, Hypertension	ORPHA:403
Mucopolysaccharidosis, Type Ix	Bifid uvula, Submucous cleft hard palate	OMIM:601492
Phocomelia, Schinzel Type	Finger aplasia, Radial bowing, Micromelia, Aplasia/Hypoplasia involving the pelvis, Abnormal tibi...	ORPHA:2879
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Bone marrow hypocellularity, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Leukopenia, Leukocyto...	OMIM:615688
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Abnormal T cell count, Absent circulating B cells, Delayed puberty, Enteroviral hepatitis, Short ...	OMIM:307200
Meckel Syndrome, Type 6	Cleft upper lip, Bilobed right lung, Cleft palate, Pulmonary hypoplasia	OMIM:612284
Ectodermal Dysplasia With Impaired Intellectual Development And Syndactyly	Wide nasal bridge, 3-4 finger syndactyly, 2-3 toe syndactyly	OMIM:600906
Noonan Syndrome 8	Failure to thrive, Hypertrophic cardiomyopathy, Large for gestational age, Ventricular septal def...	OMIM:615355
Anophthalmia Plus Syndrome	Spina bifida	ORPHA:1104
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Portal hypertension...	OMIM:620367
Sifrim-Hitz-Weiss Syndrome	Tetralogy of Fallot, Gait imbalance, Ventricular septal defect, Short clavicles, Wormian bones, H...	OMIM:617159
Familial Hyperaldosteronism Type Ii	Epistaxis, Intracranial hemorrhage, Hypertension	ORPHA:404
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Lymphopenia, Eosinophilia, Disproportionate short stature, Hepatic cysts	OMIM:617425
Familial Adenomatous Polyposis	Abnormal cementum morphology, Abnormality of the dentition, Eruption failure, Odontoma, Supernume...	ORPHA:733
Kbg Syndrome	Radial deviation of finger, Cervical ribs, Ulnar deviation of the 2nd finger, Thoracic kyphosis, ...	OMIM:148050
Pontocerebellar Hypoplasia, Type 10	Wide nasal bridge, Underdeveloped nasal alae, Seizure, Bulbous nose, Kyphoscoliosis, Short neck, ...	OMIM:615803
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Depressed nasal bridge, Small hand, Broad nasal tip, Clinodactyly, Seizure, Bulbous nose, Overlap...	OMIM:309590
Indomethacin Embryofetopathy	Atrial septal defect, Cardiomyopathy, Ventricular septal defect	ORPHA:1909
Megabladder, Congenital	Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Ventr...	OMIM:618719
Adenylosuccinase Deficiency	Seizure, Inability to walk, Anteverted nares, Gait ataxia, Myoclonus, Short nose, Prominent metop...	OMIM:103050
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Exencephaly	ORPHA:2211
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice	ORPHA:59303
B4Galt1-Cdg	Wide nasal bridge, Hypothyroidism, Small for gestational age, Elevated circulating creatine kinas...	ORPHA:79332
Agammaglobulinemia, X-Linked	Lymph node hypoplasia, Neutropenia, B lymphocytopenia, Anemia, Enteroviral hepatitis, T lymphocyt...	OMIM:300755
Craniofrontonasal Syndrome	Wide nasal bridge, Bifid nasal tip, Coronal craniosynostosis, Toe syndactyly, 3-4 finger syndacty...	OMIM:304110
Fliedner-Zweier Syndrome	Meningocele, Hypoplastic aortic arch, Tethered cord	OMIM:620511
Diamond-Blackfan Anemia 7	Choanal atresia, Osteopenia, Small hypothenar eminence, Secundum atrial septal defect, Short thum...	OMIM:612562
Vascular Hyalinosis	Hematochezia, Vascular dilatation, Subarachnoid hemorrhage	OMIM:277175
Craniofacioskeletal Syndrome	Choanal atresia, Small hand, Intrauterine growth retardation, Micrognathia, Large fontanelles, Ve...	OMIM:300712
Sitosterolemia 1	Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb...	OMIM:210250
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension	ORPHA:251274
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Growth delay, Intrauterine growth retardation, Splenomegaly, Hepatomegaly, Short stature	OMIM:618541
Sepsis In Premature Infants	Leukocytosis, Splenomegaly, Decreased body weight, Hepatomegaly, Thrombocytopenia, Neutropenia, A...	ORPHA:90051
Chromosome 15Q14 Deletion Syndrome	Recurrent viral upper respiratory tract infections, Atrial septal defect, Ventricular septal defect	OMIM:616898
Cranioectodermal Dysplasia 2	Wide nasal bridge, Depressed nasal bridge, Rhizomelia, Retrognathia, Clinodactyly, Micrognathia, ...	OMIM:613610
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Failure to thrive, Splenomegaly, Hepatomegaly, Jaundice	OMIM:235555
1P31P32 Microdeletion Syndrome	Moyamoya phenomenon, Intraventricular hemorrhage, Tethered cord	ORPHA:401986
Absent Radius-Anogenital Anomalies Syndrome	Oligodactyly, Hypoplasia of the radius, Ectrodactyly	ORPHA:3016
Steinert Myotonic Dystrophy	Mental deterioration, Hyperinsulinemia, Talipes equinovarus, Cognitive impairment, Secondary hype...	ORPHA:273
Immunodeficiency 59 And Hypoglycemia	Wide nasal bridge, Slender finger, Recurrent upper respiratory tract infections, Hypoglycemia, Na...	OMIM:233600
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta...	OMIM:619849
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Thin ribs, Flexion contracture, Short stature, Mild short stature	OMIM:614833
Pseudoaminopterin Syndrome	Synostosis of carpal bones, Overlapping toe, Micrognathia, Limited elbow movement, Slender finger...	ORPHA:221120
Ciliary Dyskinesia, Primary, 1	Pneumonia, Bronchiectasis, Recurrent bronchitis, Atelectasis	OMIM:244400
Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome	Wide nasal bridge, Short distal phalanx of finger, Scoliosis, Seizure	ORPHA:1970
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Myoclonic seizure, Focal impaired awareness seizure, Small for gestational age, Failure to thrive...	OMIM:620024
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Depletion of mitochondrial DNA in liver, Periportal fibrosis, Micronodular cirrhosis, Failure to ...	OMIM:251880
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Epistaxis, Second degree atrioventricular block, Pulmonary arterial hypertension, Intracranial he...	ORPHA:369929
Limb Body Wall Complex	Wide nasal bridge, Choanal atresia, Depressed nasal bridge, Progressive congenital scoliosis, Bro...	ORPHA:2369
Chilton-Okur-Chung Neurodevelopmental Syndrome	Ankyloglossia, Micrognathia, Self-injurious behavior, Slender finger, Broad nasal tip, Cone-shape...	OMIM:619841
Fanconi Anemia	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Micrognathia, Weight loss, Atri...	ORPHA:84
Congenital Myopathy 17	Dental malocclusion, Long philtrum, Tented upper lip vermilion, Respiratory tract infection, Smoo...	OMIM:618975
Legionnaires Disease	Bone marrow hypocellularity, Hepatitis, Lymphopenia, Splenomegaly, Pancreatitis, Lymphadenopathy,...	ORPHA:549
Cranioectodermal Dysplasia 1	Clinodactyly, Bicuspid aortic valve, Broad distal phalanges of all fingers, Broad toe, Flattened ...	OMIM:218330
Developmental And Epileptic Encephalopathy 100	Thoracolumbar kyphosis, Depressed nasal bridge, Small hand, Broad nasal tip, Chorea, Micrognathia...	OMIM:619777
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Foot oligodactyly, Ventricular septal defect, Omphalocele, Scoliosis, Short femur	OMIM:601357
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Carious teeth, Ventricular septal defect, Atrial septal defect, Broad toe, Long nose, Short foot,...	OMIM:619522
Lysinuric Protein Intolerance	Hemophagocytosis, Failure to thrive, Leukopenia, Splenomegaly, Hepatomegaly, Pancreatitis, Thromb...	OMIM:222700
Histiocytoid Cardiomyopathy	Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,...	ORPHA:137675
Renpenning Syndrome 1	Wide nasal bridge, Joint contracture of the hand, Scoliosis, Synostosis of the proximal phalanx o...	OMIM:309500
Triosephosphate Isomerase Deficiency	Normocytic anemia, Cholelithiasis, Failure to thrive, Splenomegaly, Macrocytic anemia, Cholecysti...	OMIM:615512
Yunis-Varon Syndrome	Aplasia of the distal phalanx of the hallux, Micrognathia, Ventricular septal defect, Decreased s...	ORPHA:3472
Hermansky-Pudlak Syndrome 2	Reduced natural killer cell count, Enlarged platelet dense granules, Hepatosplenomegaly, Decrease...	OMIM:608233
17Q12 Microduplication Syndrome	Abnormal vertebral morphology, Toe syndactyly, Finger syndactyly, Seizure, Atrial septal defect	ORPHA:261272
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Depressed nasal bridge, Broad hallux, Bulbous nose, Anteverted nares, Single transverse palmar cr...	OMIM:614105
Simpson-Golabi-Behmel Syndrome, Type 1	Broad thumb, Congenital diaphragmatic hernia, Ventricular septal defect, Talipes equinovarus, 2-3...	OMIM:312870
Ulbright-Hodes Syndrome	Thin ribs, Abnormal forearm bone morphology, Postnatal growth retardation, Fibular aplasia, Humer...	ORPHA:3404
Cardiomyopathy, Dilated, 1S	Dilated cardiomyopathy, Left ventricular noncompaction, Interstitial cardiac fibrosis, Bicuspid a...	OMIM:613426
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy	Wide nasal bridge, Depressed nasal bridge, Status epilepticus	OMIM:615760
Hydrolethalus	Bifid uvula, Gingival cleft, Unilateral cleft lip, Submucous cleft hard palate, Cleft palate	ORPHA:2189
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome	Hypoplastic nasal bridge, Retrognathia, Seizure, Intrauterine growth retardation, Left ventricula...	OMIM:620510
Carey-Fineman-Ziter Syndrome	Ulnar deviation of finger, Aplasia of the pectoralis major muscle, Anteverted nares, Micrognathia...	ORPHA:1358
Pearson Marrow-Pancreas Syndrome	Erythema, Sideroblastic anemia, Pancytopenia, Pallor, Refractory sideroblastic anemia, Reticulocy...	OMIM:557000
Duane Retraction Syndrome	Wide nasal bridge, Abnormal form of the vertebral bodies, Seizure, Preaxial hand polydactyly, Ant...	ORPHA:233
Chromosome 8Q21.11 Deletion Syndrome	Wide nasal bridge, Underdeveloped nasal alae, Micrognathia, Short neck, Absent palmar crease, Cam...	OMIM:614230
Thoracoabdominal Syndrome	Cleft palate, Cleft upper lip, Pulmonary hypoplasia	OMIM:313850
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Interstitial pneumonitis, Abnormal pulmonary interstitial morphology, Intraalveolar phospholipid ...	ORPHA:217563
Congenital Heart Defects, Multiple Types, 5	Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi...	OMIM:617912
Congenital Disorder Of Glycosylation, Type 2V	Wide nasal bridge, Retrognathia, Underdeveloped nasal alae, Bulbous nose, Talipes equinovarus, Lo...	OMIM:619493
Roberts-Sc Phocomelia Syndrome	Clinodactyly, Hyperplasia of the maxilla, Narrow naris, Micrognathia, Ventricular septal defect, ...	OMIM:268300
Microphthalmia, Syndromic 3	Postnatal growth retardation, Butterfly vertebrae, Missing ribs, Supernumerary ribs, Rib fusion, ...	OMIM:206900
Geleophysic Dysplasia 2	Aortic valve stenosis, Cone-shaped epiphysis, Limitation of joint mobility, Tip-toe gait, Joint s...	OMIM:614185
Hereditary Orotic Aciduria	Anemia, Patent ductus arteriosus, Splenomegaly	ORPHA:30
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega...	OMIM:616217
Degcags Syndrome	Toe syndactyly, Micrognathia, Genu valgum, Ventricular septal defect, Talipes equinovarus, Atrial...	OMIM:619488
Absent Eyebrows And Eyelashes With Impaired Intellectual Development	Convex nasal ridge, Short nose	OMIM:200130
1P36 Deletion Syndrome	Delayed cranial suture closure, Foot polydactyly, Short foot, Depressed nasal ridge, Tetralogy of...	ORPHA:1606
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Postnatal growth retardation, Coat hanger sign of ribs, Thoracic hypoplasia	ORPHA:254534
Medulloblastoma	Hydrocephalus, Cerebellar hemorrhage, Spinal cord tumor	ORPHA:616
Immunodeficiency 47	Accessory spleen, Normocytic anemia, Hepatic bridging fibrosis, Hepatic fibrosis, Failure to thri...	OMIM:300972
Ring Chromosome 7 Syndrome	Wide nasal bridge, Short 5th finger, Small hand, Slender finger, Narrow naris, Hypogonadism, 3-4 ...	ORPHA:1449
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia	OMIM:619183
Zimmermann-Laband Syndrome 1	Wide nasal bridge, Short distal phalanx of finger, Broad nasal tip, Delayed eruption of teeth, Ca...	OMIM:135500
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Attention deficit hyperactivity disorder, Seizure, Patent foramen ovale	OMIM:617182
Ornithine Transcarbamylase Deficiency	Splenomegaly	ORPHA:664
Gray Platelet Syndrome	Splenomegaly, Abnormal number of alpha granules, Thrombocytopenia	OMIM:139090
Histidinuria Due To A Renal Tubular Defect	Wide nasal bridge, Rounded middle phalanx of finger, Generalized myoclonic seizure, Short middle ...	OMIM:235830
Pontine Tegmental Cap Dysplasia	Rib fusion, Scoliosis, Hemivertebrae, Ankle clonus	OMIM:614688
Specc1L-Related Hypertelorism Syndrome	Wide nasal bridge, Finger syndactyly, Short toe, Umbilical hernia, Tetralogy of Fallot, Prominent...	ORPHA:1519
Kagami-Ogata Syndrome	Limitation of joint mobility, Thoracic hypoplasia, Postnatal growth retardation, Bell-shaped thor...	ORPHA:254519
Velocardiofacial Syndrome	Velopharyngeal insufficiency, Open mouth, Submucous cleft hard palate, Unilateral primary pulmona...	OMIM:192430
White-Kernohan Syndrome	Depressed nasal bridge, Retrognathia, Underdeveloped nasal alae, Anteverted nares, Obesity, Joint...	OMIM:619426
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Narrow chest, Short toe, Short finger, Thoracic dysplasia, Intrauterine gro...	OMIM:269860
Oculocerebrocutaneous Syndrome	Short distal phalanx of finger, Congenital hip dislocation, Finger syndactyly, Missing ribs, Hand...	ORPHA:1647
Pseudo-Torch Syndrome 3	Leukocytosis, Congenital thrombocytopenia, Cerebral hemorrhage, Anemia, Hypertension	OMIM:618886
Diamond-Blackfan Anemia 16	Atrial septal defect, Pulmonic stenosis	OMIM:617408
Pediatric Systemic Lupus Erythematosus	Microangiopathic hemolytic anemia, Ascites, Lymphopenia, Leukopenia, Lymphadenopathy, Thrombocyto...	ORPHA:93552
Whim Syndrome	Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Paroti...	ORPHA:51636
Blepharocheilodontic Syndrome 1	Neural tube defect	OMIM:119580
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Depressed nasal bridge, Broad nasal tip, Ventricular septal defect, Overriding aorta, Atrial sept...	OMIM:601927
Acyl-Coa Dehydrogenase 9 Deficiency	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Cerebellar hemorrh...	ORPHA:99901
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Stomatocytosis, Growth delay, Splenomegaly, Short stature, Hepatomegaly, Jaundice, Hemolytic anemia	OMIM:608885
Niemann-Pick Disease, Type C1	Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Prolonged neonatal jaundice, Hepatomegaly, B...	OMIM:257220
Hemorrhagic Fever-Renal Syndrome	Epistaxis, Hypotension, Subconjunctival hemorrhage, Shock, Palpitations, Leukocytosis, Petechiae,...	ORPHA:340
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii	Short 4th metacarpal, Type E brachydactyly, Short metatarsal, Atrial septal defect	OMIM:113301
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Ascites, Splenomegaly, Cirrhosis,...	OMIM:602347
Renal Tubular Dysgenesis	Pulmonary hypoplasia	OMIM:267430
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Wide nasal bridge, Abnormality of the palmar creases, Mandibular prognathia, Delayed eruption of ...	ORPHA:521445
Apc-Related Attenuated Familial Adenomatous Polyposis	Supernumerary tooth, Odontoma	ORPHA:247806
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Abnormal sternum morphology, Broad ribs, Short ribs, Abnormal rib morphology, Postaxial hand poly...	ORPHA:2519
Toluene Embryopathy	Micrognathia, Hypoplasia of the zygomatic bone, Short nose, Tapered finger	ORPHA:1920
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hypotension, Pallor, Pulmonary arterial hypertension, Megaloblastic anemia, Hydrocephalus, Neutro...	OMIM:277400
Spinal Muscular Atrophy With Congenital Bone Fractures 1	High palate, Narrow mouth, Pulmonary hypoplasia	OMIM:616866
Fusariosis	Granuloma, Brain abscess, Abnormality of the spleen, Lymphopenia, Abnormality of the liver, Perit...	ORPHA:228119
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Wide nasal bridge, Seizure, Intrauterine growth retardation, Anteverted nares, Scoliosis	ORPHA:2518
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Giant cell hepatitis, Failure to thrive, Splenomegaly, Cirrhosis, Achol...	OMIM:607765
Generalized Pustular Psoriasis	Lymphopenia, Obesity, Overweight, Leukocytosis	ORPHA:247353
Denys-Drash Syndrome	Posterolateral diaphragmatic hernia, Congenital diaphragmatic hernia, Wide anterior fontanel, Neo...	OMIM:194080
Pericardial And Diaphragmatic Defect	Intestinal malrotation, Pulmonary sequestration, Meckel diverticulum, Pulmonary hypoplasia	ORPHA:2847
Trichohepatoenteric Syndrome 2	Wide nasal bridge, Depressed nasal bridge, Failure to thrive, Intrauterine growth retardation, Sm...	OMIM:614602
46,Xx Sex Reversal 5	Hypoplastic left heart, Secundum atrial septal defect, Ventricular septal defect, Increased serum...	OMIM:618901
Double Outlet Right Ventricle	Intestinal malrotation, Narrow mouth, Submucous cleft hard palate, Pulmonary artery atresia, Clef...	ORPHA:3426
Hijazi-Reis Syndrome	Gait disturbance, Motor stereotypy	OMIM:301094
Menke-Hennekam Syndrome 1	Overlapping toe, Micrognathia, Short nose, Depressed nasal ridge, Narrow nasal bridge, Inguinal h...	OMIM:618332
Chops Syndrome	Tracheomalacia, Anteverted nares, Obesity, Patent foramen ovale, Ventricular septal defect, Cervi...	OMIM:616368
Coffin-Siris Syndrome 1	Congenital diaphragmatic hernia, Ventricular septal defect, Aplasia/Hypoplasia of the patella, At...	OMIM:135900
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Platyspondyly, Polysyndactyly of hallux, Pectus carinatum, Narrow chest, Postaxial polysyndactyly...	OMIM:263520
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Cardiomyopathy, Leukopenia, Cerebellar hemorrhage, Thrombocytopenia, Neutropenia	OMIM:251000
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Depressed nasal bridge, Dilated cardiomyopathy, Palmoplantar keratoderma, Failure to thrive, Myof...	OMIM:620519
Beemer-Ertbruggen Syndrome	Wide nasal bridge, Bulbous nose, Micrognathia, Increased bone mineral density	ORPHA:1237
Tetraamelia-Multiple Malformations Syndrome	Missing ribs, Abnormally ossified vertebrae, Abnormal rib morphology, Aplasia/Hypoplasia involvin...	ORPHA:3301
Hereditary Hemorrhagic Telangiectasia	Arteriovenous malformation, Nasal mucosa telangiectasia, Telangiectasia, Retinal telangiectasia, ...	ORPHA:774
Metachromatic Leukodystrophy, Juvenile Form	Progressive psychomotor deterioration, Short attention span, Emotional lability, Progressive gait...	ORPHA:309263
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Depressed nasal bridge, Cleft lip, Broad ribs, Genu valgum, Short attention span, Broad long bone...	OMIM:301066
Arboleda-Tham Syndrome	Enlarged proximal interphalangeal joints, Genu valgum, Ventricular septal defect, Short hallux, A...	OMIM:616268
Bilateral Generalized Polymicrogyria	Self-injurious behavior, Motor stereotypy, Oral-pharyngeal dysphagia	ORPHA:208447
Immunodeficiency 87 And Autoimmunity	Growth delay, Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Ascites, Cervical lymphadenopath...	OMIM:619573
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Wide nasal bridge, Depressed nasal bridge, Congenital hip dislocation, Umbilical hernia, Mitral v...	OMIM:104350
Poems Syndrome	Visceromegaly, Polycythemia, Ascites, Splenomegaly, Hemangioma, Weight loss, Lymphadenopathy, Thr...	ORPHA:2905
Pterygium Colli, Isolated	Short nose	OMIM:177990
Triploidy	Intrauterine growth retardation, Holoprosencephaly, Hydrocephalus, Meningocele	ORPHA:3376
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Inflammation of the large intestine, Interstitial emphysema, Absent uvula, Intestinal atresia, Re...	OMIM:619708
Monosomy 22Q13.3	Wide nasal bridge, Dental malocclusion, Impaired pain sensation, Dental crowding, Bruxism, Bulbou...	ORPHA:48652
Sacral Defect With Anterior Meningocele	Hydromyelia, Tethered cord, Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal si...	OMIM:600145
Crimean-Congo Hemorrhagic Fever	Gingival bleeding, Pancytopenia, Neutrophilia, Tachycardia, Purpura, Diffuse alveolar hemorrhage,...	ORPHA:99827
Orofaciodigital Syndrome Type 4	Aplasia/Hypoplasia of the tibia, Choanal atresia, Depressed nasal ridge, Aplasia/Hypoplasia of th...	ORPHA:2753
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:79292
Heterotaxy, Visceral, 1, X-Linked	Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Bilateral talipe...	OMIM:306955
Beta-Ketothiolase Deficiency	Hepatomegaly, Hyperglycemia, Hypoglycemia	ORPHA:134
Intellectual Developmental Disorder, Autosomal Dominant 66	Toe clinodactyly, Secundum atrial septal defect, Seizure, Infantile spasms, Arachnodactyly, Trans...	OMIM:619910
Mucopolysaccharidosis, Type Iiid	Epiphyseal dysplasia, Elbow flexion contracture, Joint stiffness, Thoracic scoliosis, Pilonidal s...	OMIM:252940
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Flared nostrils, Broad-based gait, Micrognathia, Narrow mouth, Ataxia, High palate, Unsteady gait...	OMIM:614756
Diamond-Blackfan Anemia 21	Secundum atrial septal defect, Short toe, Sandal gap, Preaxial hand polydactyly, Obesity, Genu va...	OMIM:620072
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Lower limb dysmetria, Abnormality of the sphenoid sinus, Abnormal tibia morphology, Micrognathia,...	ORPHA:363700
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Increased mean platelet volume	OMIM:153670
Keutel Syndrome	Wide nasal bridge, Depressed nasal bridge, Short distal phalanx of finger, Short thumb, Seizure, ...	OMIM:245150
Focal Facial Dermal Dysplasia Type Iii	Wide nasal bridge, Depressed nasal ridge, Abnormal sacroiliac joint morphology	ORPHA:1807
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Inguinal hernia, Joint hypermobility, Atrial septal defect, Scoliosis, Reduced bone mineral densi...	OMIM:619115
Budd-Chiari Syndrome	Ascites, Portal hypertension, Splenomegaly, Cholecystitis, Peritonitis, Cirrhosis, Weight loss, H...	ORPHA:131
Czeizel-Losonci Syndrome	Myelomeningocele, Spina bifida occulta, Spina bifida, Hydrocephalus	ORPHA:2437
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Myoclonic seizure, Biventricular hypertrophy, Patent foramen ovale, Ventricular septal defect, De...	OMIM:615474
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Wide nasal bridge, Failure to thrive, Seizure, Hypoglycemia, Hypertrophic cardiomyopathy, Mitral ...	OMIM:220111
Immunodeficiency 82 With Systemic Inflammation	Reduced natural killer cell count, Hepatitis, Decreased proportion of naive T cells, Splenomegaly...	OMIM:619381
Doors Syndrome	Wide nasal base, Adrenal hyperplasia, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Lumbar ...	ORPHA:79500
Immunodeficiency 89 And Autoimmunity	Recurrent lower respiratory tract infections, Pulmonary bulla, Bronchiectasis, Pleural thickening	OMIM:619632
Alström Syndrome	Decreased circulating T4 concentration, Hyperinsulinemia, Type II diabetes mellitus, Lumbar scoli...	ORPHA:64
Atrial Septal Defect 2	Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pul...	OMIM:607941
Ramos-Arroyo Syndrome	Depressed nasal bridge, Carious teeth, Anteverted nares, Decreased body weight, Severe failure to...	ORPHA:1051
Glutaryl-Coa Dehydrogenase Deficiency	Retinal hemorrhage, Communicating hydrocephalus, Subdural hemorrhage	ORPHA:25
Lymphedema-Hypoparathyroidism Syndrome	Wide nasal bridge, Increased carrying angle, Mitral valve prolapse, Brachydactyly, Hypoparathyroi...	OMIM:247410
Methylmalonic Acidemia With Homocystinuria Type Cblf	Intrauterine growth retardation, Intraventricular hemorrhage, Megaloblastic anemia, Neutropenia, ...	ORPHA:79284
Spondyloocular Syndrome	Platyspondyly, Osteopenia, Overlapping toe, Vertebral compression fracture, Mitral valve prolapse...	OMIM:605822
Proximal Spinal Muscular Atrophy	Distal upper limb muscle weakness, Difficulty walking, Inability to walk, Elbow flexion contractu...	ORPHA:70
Noonan Syndrome With Multiple Lentigines	Wide nasal bridge, Hypertrophic cardiomyopathy, Atrioventricular canal defect, Intrauterine growt...	ORPHA:500
Pentalogy Of Cantrell	Orofacial cleft, Non-midline cleft of the upper lip, Cleft palate, Pulmonary hypoplasia	ORPHA:1335
Tolchin-Le Caignec Syndrome	Wide nasal bridge, Precocious puberty, Umbilical hernia, Prominent nose, Micrognathia, Cardiac rh...	OMIM:618971
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Pectus carinatum, Congenital hip dislocation, Fractures of the long bones, Widely spaced teeth, M...	ORPHA:496641
Genitopatellar Syndrome	Wide nasal bridge, Congenital hip dislocation, Delayed eruption of teeth, Inferior pubic ramus hy...	OMIM:606170
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Depressed nasal bridge, Elbow flexion contracture, Anteverted nares, Micrognathia, Large fontanel...	OMIM:300868
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Broad-based gait, Bilateral tonic-clonic seizure on awakening, Increased circulating prolactin co...	ORPHA:438213
Dahlberg-Borer-Newcomer Syndrome	Wide nasal bridge, Short distal phalanx of finger, Mitral valve prolapse, Hypothyroidism, Brachyd...	ORPHA:1563
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Wide nasal bridge, Broad distal phalanx of finger, Broad nasal tip, Retrognathia, Elbow flexion c...	OMIM:619194
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Typical absence seizure, Prominent fi...	ORPHA:466950
C Syndrome	Depressed nasal bridge, Toe syndactyly, Limitation of joint mobility, Micromelia, Seizure, Failur...	ORPHA:1308
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Wide nasal bridge, Prominent nasal bridge, Reduced subcutaneous adipose tissue, Long nose, Mandib...	OMIM:137940
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Wide nasal bridge, Microretrognathia, Carious teeth, Dental malocclusion, Clinodactyly, Down-slop...	OMIM:615560
Coffin-Siris Syndrome 12	Broad thumb, Delayed cranial suture closure, Micrognathia, Radioulnar synostosis, Prominent nasal...	OMIM:619325
Boomerang Dysplasia	Wide nasal bridge, Hypoplastic nasal septum, Underdeveloped nasal alae, Fibular aplasia, Neonatal...	OMIM:112310
Matthew-Wood Syndrome	Abnormal lung morphology, Pulmonary hypoplasia, Duodenal stenosis	ORPHA:2470
Atrial Septal Defect 4	Atrial septal defect, Patent foramen ovale	OMIM:611363
Meacham Syndrome	Scimitar anomaly, Death in childhood, Death in infancy, Neonatal death, Congenital alveolar dyspl...	OMIM:608978
Okamoto Syndrome	Wide nasal bridge, Depressed nasal bridge, Aortic valve stenosis, Underdeveloped nasal alae, Abno...	ORPHA:2729
Mixed Connective Tissue Disease	Mediastinal lymphadenopathy, Leukopenia, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic a...	ORPHA:809
Hereditary Pheochromocytoma-Paraganglioma	Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo...	ORPHA:29072
Pheochromocytoma--Islet Cell Tumor Syndrome	Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr...	OMIM:171420
Avian Influenza	Lymphopenia, Leukopenia, Hepatitis, Thrombocytopenia	ORPHA:454836
Jung Syndrome	Wide nasal bridge, Depressed nasal bridge, Hypothyroidism, Abnormal form of the vertebral bodies	ORPHA:2321
White-Sutton Syndrome	Self-injurious behavior, Depressed nasal bridge, Broad nasal tip, Downturned corners of mouth, Op...	ORPHA:468678
Craniotubular Dysplasia, Ikegawa Type	Platyspondyly, Broad femoral neck, Broad ribs, Sclerosis of skull base, Increased intervertebral ...	OMIM:619727
Neutral Lipid Storage Disease With Ichthyosis	Micronodular cirrhosis, Hepatic steatosis, Hepatomegaly, Abnormal granulocyte morphology, Short s...	ORPHA:98907
Kcnq2-Related Epileptic Encephalopathy	Facial erythema, Pallor	ORPHA:439218
Distal Deletion 9P	Wide nasal bridge, Hernia, Short neck, Brachydactyly, Short nose	ORPHA:1642
Gaucher Disease, Type Ii	Failure to thrive, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:230900
Cerebrocostomandibular Syndrome	Hydranencephaly, Myelomeningocele, Intrauterine growth retardation, Spina bifida, Short stature, ...	ORPHA:1393
Gabriele-De Vries Syndrome	Sandal gap, Decreased response to growth hormone stimulation test, Bulbous nose, Intrauterine gro...	ORPHA:506358
Metachromatic Leukodystrophy, Late Infantile Form	Tip-toe gait, Gait ataxia, Emotional lability, Progressive gait ataxia, Abnormal social behavior	ORPHA:309256
Oculoectodermal Syndrome	Wide nasal bridge, Depressed nasal bridge, Seizure, Hypertrophic cardiomyopathy, Short neck, Pine...	OMIM:600268
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatitis, Failure to thrive, Splenomegaly, ...	OMIM:613812
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Thin ribs, Congenital hip dislocation, Osteopenia, Progressive congenital scoliosis, Joint disloc...	OMIM:225400
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Recurrent respiratory infections, Cleft soft palate, Submucous cleft soft palate	ORPHA:2282
Robin Sequence With Cleft Mandible And Limb Anomalies	Short tibia, Cleft mandible, Micrognathia, Narrow mouth, Short hallux, High palate, Short metacar...	OMIM:268305
Monosomy 22	Meningioma, Gonadal neoplasm, Schwannoma, Hepatosplenomegaly, Aplasia of the thymus, Hypochromic ...	ORPHA:96123
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Anemia, Lymphopenia, Abnormality of the pancreas	ORPHA:935
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Rectal ab...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Rectal ab...	OMIM:233710
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatic fibrosis, Failure to thrive, Cholestasis, Hepatosplenomegaly, Intrauterine growth retarda...	OMIM:620376
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Abnormal T-wave, Palpitations, Intracranial hemorrhage, Hypertension	ORPHA:231625
Alpha-Mannosidosis, Infantile Form	Platyspondyly, Osteopenia, Pectus carinatum, Cranial hyperostosis, Talipes valgus, Joint stiffnes...	ORPHA:309282
Feingold Syndrome 1	Wide nasal bridge, Short toe, Short thumb, Small anterior fontanelle, Depressed nasal tip, Microg...	OMIM:164280
Loeys-Dietz Syndrome 4	High, narrow palate, Bifid uvula, Broad uvula, Emphysema, Eosinophilic infiltration of the esopha...	OMIM:614816
Sirenomelia	Sirenomelia, Spina bifida	ORPHA:3169
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Reduced natural killer cell count, Perianal abscess, Iron...	OMIM:301074
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Neonatal insulin-dependent diabetes mellitus, Anterior pituitary agenesis, Hypoplastic tricuspid ...	ORPHA:2255
Oculocerebral Hypopigmentation Syndrome, Cross Type	Depressed nasal bridge, Limitation of joint mobility, Anteverted nares, Inguinal hernia, Abnormal...	ORPHA:2719
Glycogen Storage Disease Ib	Splenomegaly, Pancreatitis, Delayed puberty, Neutropenia, Pancreatic fibrosis, Hepatomegaly, Shor...	OMIM:232220
Perlman Syndrome	Wide nasal bridge, Depressed nasal bridge, Hypoglycemia, Large for gestational age, Micrognathia,...	OMIM:267000
Reni Syndrome	Lymphopenia	OMIM:617575
Fanconi-Bickel Syndrome	Postprandial hyperglycemia, Intrahepatic cholestasis, Glycosuria, Elevated circulating aspartate ...	OMIM:227810
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Splenomegaly, Neutropenia	OMIM:617050
Trisomy 1Q	Toe syndactyly, Short thorax, Camptodactyly of finger, Preaxial hand polydactyly, Arachnodactyly,...	ORPHA:261344
Pelvis-Shoulder Dysplasia	Hydranencephaly, Mesomelic/rhizomelic limb shortening, Neonatal short-trunk short stature, Spina ...	ORPHA:2839
Lateral Meningocele Syndrome	Syringomyelia, Meningocele, Dural ectasia, Umbilical hernia	ORPHA:2789
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Cholestasis, Hepatic steatosis, Splenomegaly, Hepatomegaly, Jaundice, ...	OMIM:618641
Vici Syndrome	Decreased circulating IgG level, Depressed nasal bridge, Dilated cardiomyopathy, Failure to thriv...	OMIM:242840
3-Hydroxy-3-Methylglutaric Aciduria	Hypotension, Dilated cardiomyopathy, Leukopenia, Leukocytosis, Pallor, Prolonged prothrombin time...	ORPHA:20
Schilbach-Rott Syndrome	Bifid uvula, Narrow mouth, Submucous cleft hard palate	OMIM:164220
Arthrogryposis, Distal, Type 3	Bifid uvula, High palate, Cleft palate, Submucous cleft hard palate	OMIM:114300
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Intrauterine growth retardation, Intraventricular hemorrhage, Prolonged prothrombin time, Neonata...	OMIM:619055
Trichotillomania	Compulsive behaviors, Hair-pulling	OMIM:613229
Long-Olsen-Distelmaier Syndrome	Dilated cardiomyopathy, Secundum atrial septal defect, Failure to thrive, Hypoglycemia, Ventricul...	OMIM:620609
Iniencephaly	Rhizomelia, Spinal dysraphism, Myelomeningocele, Encephalocele, Syringomyelia, Spina bifida, Hydr...	ORPHA:63259
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Abnormal fingertip morphology, Motor stereotypy	ORPHA:529965
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations	Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect	OMIM:601322
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Rectal ab...	OMIM:233690
Kabuki Syndrome 1	Wide nasal bridge, Short 5th finger, Congenital hip dislocation, Abnormal vertebral morphology, F...	OMIM:147920
Yunis-Varon Syndrome	Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Micrognathia, Large fontanelles, Bilateral si...	OMIM:216340
Aspartylglucosaminuria	Wide nasal bridge, Abnormal vertebral morphology, Carious teeth, Seizure, Umbilical hernia, Joint...	ORPHA:93
Microphthalmia With Linear Skin Defects Syndrome	Wide nasal bridge, Dilated cardiomyopathy, Retrognathia, Seizure, Failure to thrive, Abnormal den...	ORPHA:2556
Tetramelic Monodactyly	Hand monodactyly, Split hand, Split foot, Foot monodactyly	OMIM:187510
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Portal vein thrombosis, Right ventricular hypertrophy, Cavernous hem...	OMIM:616028
Hypotonia, Ataxia, And Delayed Development Syndrome	Pain insensitivity, Broad-based gait, Broad nasal tip, Downturned corners of mouth, Thick lower l...	OMIM:617330
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Reduced natural killer cell count, Cerebral vasculitis, Decreased proportion of CD4-positive help...	OMIM:243700
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Lymphopenia, Pancytopenia, Leukopenia, Obesity, Thrombocytopenia, Anemia, Short stature, Patent d...	OMIM:620654
Hyperparathyroidism, Neonatal Severe	Anemia, Hepatomegaly, Splenomegaly, Failure to thrive	OMIM:239200
Developmental And Epileptic Encephalopathy 2	Small hand, Thick lower lip vermilion, Inability to walk, Anteverted nares, Short foot, Motor ste...	OMIM:300672
Neu-Laxova Syndrome 1	Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Micrognathia, Ven...	OMIM:256520
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Depressed nasal bridge, Coarse metaphyseal trabecularization, Ectopic anterior pituitary gland, F...	OMIM:620558
Niemann-Pick Disease, Type C2	Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, J...	OMIM:607625
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Seizure, Underdeveloped nasal alae, Anteverted nares, Clinodactyly of the 5th finger, Short nose	ORPHA:2031
Laubry-Pezzi Syndrome	Patent foramen ovale, Aortic valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Le...	ORPHA:99094
Kyphoscoliotic Ehlers-Danlos Syndrome	Subdural hemorrhage, Bruising susceptibility, Umbilical hernia, Arterial rupture, Aortic aneurysm...	ORPHA:536545
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Weight loss, Splenomegaly	ORPHA:33577
Restrictive Dermopathy	Choanal atresia, Osteopenia, Natal tooth, Aplasia/Hypoplasia involving the nose, Camptodactyly of...	ORPHA:1662
Renal Cysts And Diabetes Syndrome	Elevated circulating hepatic transaminase concentration, Maturity-onset diabetes of the young, Gl...	OMIM:137920
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Anemia, Pallor	OMIM:246450
Peters Plus Syndrome	Toe syndactyly, Micrognathia, Short neck, Short foot, Short nose, Hypoplastic left heart, Short t...	ORPHA:709
Tooth Agenesis, Selective, 3	Oligodontia, Agenesis of permanent molar, Oligodontia of primary teeth, Microdontia	OMIM:604625
Familial Benign Copper Deficiency	Wide nasal bridge, Diaphyseal undertubulation, Seizure	ORPHA:1551
Lmna-Related Cardiocutaneous Progeria Syndrome	Aortic valve stenosis, Aortic root aneurysm, Congestive heart failure, Aortic atherosclerotic les...	ORPHA:363618
Renal Hypodysplasia/Aplasia 1	Pulmonary hypoplasia	OMIM:191830
Waardenburg-Shah Syndrome	Wide nasal bridge, Prominent nasal bridge, Abnormality of the nose, Underdeveloped nasal alae	ORPHA:897
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Thin ribs, Joint hypermobility	ORPHA:456328
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Abdominal aortic aneurysm, Mitral regurgitation, Dilatation of the si...	OMIM:613795
Caudal Regression Syndrome	Anal atresia, Orofacial cleft, Pulmonary hypoplasia	ORPHA:3027
Tay-Sachs Disease	Pallor, Cherry red spot of the macula	OMIM:272800
Hypoglossia-Hypodactyly Syndrome	Wide nasal bridge, Aplasia/Hypoplasia of fingers, Short distal phalanx of finger, Finger syndacty...	ORPHA:989
Cree Impaired Intellectual Development Syndrome	Cleft soft palate	OMIM:606851
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Diamond-Blackfan Anemia 8	Wide nasal bridge, Short nose	OMIM:612563
Frontofacionasal Dysplasia	Bifid nasal tip, Choanal atresia, Depressed nasal ridge, Depressed nasal bridge, Dimple on nasal ...	ORPHA:1791
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Portal hyper...	OMIM:617394
Lethal Congenital Contracture Syndrome 5	Retinal hemorrhage, Subdural hemorrhage	OMIM:615368
Q Fever	Granuloma, Hepatitis, Hepatosplenomegaly, Abnormality of the liver, Splenomegaly, Cholecystitis, ...	ORPHA:781
Bardet-Biedl Syndrome	Insulin resistance, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hy...	ORPHA:110
Pseudotrisomy 13 Syndrome	Postaxial foot polydactyly, Complete atrioventricular canal defect, Ventricular septal defect, 2-...	OMIM:264480
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Spinal rigidity, Dilated cardiomyopathy, Seizure, Elevated circulating creatine kinase concentrat...	OMIM:253800
Goldberg-Shprintzen Megacolon Syndrome	Wide nasal bridge, Finger syndactyly, Seizure	ORPHA:66629
Transketolase Deficiency	Type I diabetes mellitus, Abnormal heart morphology, Patent foramen ovale, Ventricular septal def...	ORPHA:488618
Orofacial Cleft 15	Palate fistula, Bulbous nose, Bilateral cleft palate, Bilateral cleft lip, Agenesis of lateral in...	OMIM:616788
Cocaine Intoxication	Diffuse alveolar hemorrhage, Hypotension, Aortic dissection, Prolonged QRS complex, Ischemic stro...	ORPHA:90068
Infantile Myofibromatosis	Neoplasm of the skin, Benign neoplasm of the central nervous system, Fibroma, Sarcoma, Gingival f...	ORPHA:2591
Maternal Uniparental Disomy Of Chromosome 2	Pulmonary hypoplasia, Respiratory infections in early life, Miscarriage	ORPHA:96179
Irida Syndrome	Pallor	ORPHA:209981
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Wide nasal bridge, Palmoplantar keratoderma, Delayed eruption of teeth, Finger syndactyly, Abnorm...	ORPHA:1071
Chédiak-Higashi Syndrome	Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ...	ORPHA:167
Cone-Rod Dystrophy 8	Retinal arteriolar constriction, Pallor	OMIM:605549
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Wide nasal bridge, Osteopenia, Dental malocclusion, Clinodactyly of the 2nd finger, Micrognathia,...	ORPHA:73223
Atelosteogenesis Type I	Malrotation of colon, Cleft palate, Pulmonary hypoplasia	ORPHA:1190
Loeys-Dietz Syndrome 2	Joint contracture of the hand, Micrognathia, Mitral valve prolapse, Arachnodactyly, Bicuspid aort...	OMIM:610168
Myopathy, Mitochondrial, And Ataxia	Short stature, Growth delay, Pallor	OMIM:617675
Kikuchi-Fujimoto Disease	Abnormal lymph node morphology, Cervical lymphadenopathy, Leukopenia, Splenomegaly, Hepatomegaly,...	ORPHA:50918
Neu-Laxova Syndrome	Bifid uvula, Submucous cleft hard palate, Everted lower lip vermilion, Abnormality of the philtru...	ORPHA:2671
Adams-Oliver Syndrome 6	Foot oligodactyly, Truncus arteriosus, Ventricular septal defect, Brachydactyly, Syndactyly	OMIM:616589
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Choanal atresia, Seizure, Bulbous nose, Anteverted nares, Micrognathia, Intrauterine growth retar...	OMIM:616975
Split Lower Lip	Narrow maxilla	OMIM:183400
Warburg Micro Syndrome 2	Overlapping toe, Prominent nasal bridge, Clinodactyly of the 5th toe, Flexion contracture, Clinod...	OMIM:614225
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Hepatitis, Failure to thrive in infancy, Autoimmune hemolytic anemia, Splenomegaly, Cachexia, Iro...	ORPHA:37042
Fetal Akinesia Deformation Sequence 1	Thin ribs, Congenital contracture, Slender long bone, Thoracic hypoplasia, Camptodactyly of finge...	OMIM:208150
Vertebral Hypersegmentation And Orofacial Anomalies	Unilateral cleft palate, Unilateral cleft lip, Submucous cleft hard palate	OMIM:619122
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Generalized non-motor (absence) seizu...	ORPHA:466943
Oculocerebrorenal Syndrome Of Lowe	Carious teeth, Periodontitis, Open bite, Micrognathia, Genu valgum, Open mouth, Everted lower lip...	ORPHA:534
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphopenia, T lymphocytopenia, Lymphadenopathy, Neutropenia, Short stature, Autoimmune thrombocy...	OMIM:607944
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Motor stereotypy, Dysphagia, Hip dislocation	ORPHA:572013
Nephronophthisis 2	Pulmonary hypoplasia	OMIM:602088
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Lumbar scoliosis, Short neck, Abnormal bone ossification, Metaphyseal dysplasia, Genu varum, Irre...	ORPHA:99646
Neuroblastoma	Abnormal bleeding, Anemic pallor, Spinal cord compression, Thrombocytopenia, Anemia, Hypertension	ORPHA:635
Kosaki Overgrowth Syndrome	Wide nasal bridge, Depressed nasal bridge, Xanthelasma, Thoracolumbar scoliosis, Progressive neur...	OMIM:616592
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Self-injurious behavior, Depressed nasal bridge, High, narrow palate, Head-banging, Frequent temp...	OMIM:619575
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Failure to thrive, Underdeveloped nasal alae, Hypertrophic cardiomyopathy, Patent foramen ovale, ...	OMIM:617506
Wiskott-Aldrich Syndrome	Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea...	OMIM:301000
Neurocardiofaciodigital Syndrome	Retrognathia, Failure to thrive, Tetralogy of Fallot, Polydactyly, Atrial septal defect, Overhang...	OMIM:619869
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Wide nasal bridge, Micrognathia	ORPHA:2575
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Wide nasal bridge, Seizure, Depressed nasal tip, Ventricular septal defect, Flexion contracture	OMIM:619306
Axenfeld-Rieger Syndrome, Type 1	Wide nasal bridge, Hypoplasia of the maxilla, Decreased response to growth hormone stimulation test	OMIM:180500
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Cyanosis, Patent foramen ovale, Cardiomegaly, Atrial septal d...	ORPHA:439
Juvenile Polyposis Of Infancy	Hypoalbuminemia, Depressed nasal bridge, Midclavicular hypoplasia, Broad thumb, Subcutaneous lipo...	ORPHA:79076
Superficial Siderosis	Abnormal bleeding, Arteriovenous malformation, Abnormal vertebral artery morphology, Subarachnoid...	ORPHA:247245
Cerebrooculonasal Syndrome	Proboscis, Seizure, Anteverted nares, Prominent nasal bridge, Malar flattening, Postaxial polydac...	OMIM:605627
Senior-Loken Syndrome 8	Pallor, Vascular dilatation	OMIM:616307
Neu-Laxova Syndrome 2	Intrauterine growth retardation, Spina bifida	OMIM:616038
Pilarowski-Bjornsson Syndrome	Motor stereotypy, Prominent fingertip pads	OMIM:617682
Autosomal Recessive Malignant Osteopetrosis	Bruising susceptibility, Pallor, Splenomegaly, Pulmonary artery stenosis, Pulmonary arterial hype...	ORPHA:667
Adenohypophysitis	Pallor, Normochromic anemia	ORPHA:95512
Faciocardiorenal Syndrome	Wide nasal bridge, Failure to thrive, Underdeveloped nasal alae, Endocardial fibroelastosis, Tric...	ORPHA:1973
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Hematochezia, Abnormal bleeding, Anemic pallor, Anemia, Growth delay	ORPHA:329971
Congenital Heart Defects, Multiple Types, 3	Abnormal heart morphology, Tetralogy of Fallot, Atrial septal defect	OMIM:614954
Granulomatous Disease, Chronic, X-Linked	Granuloma, Lymphadenitis, Ascites, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lympha...	OMIM:306400
Netherton Syndrome	Emphysema, Recurrent respiratory infections	ORPHA:634
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment	Short stature, Fetal intraventricular hemorrhage	OMIM:618480
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Failure to thrive, Seizure, Hypoglycemia, Hypertrophic cardiomyopathy, Myoclonus, Short attention...	ORPHA:17
Hellp Syndrome	Hypotension, Microangiopathic hemolytic anemia, Decreased mean corpuscular hemoglobin concentrati...	ORPHA:244242
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Anteverted nares, Micrognathia, Prominent nasal bridge, Joint hypermobility, D...	ORPHA:1974
Ectodermal Dysplasia 13, Hair/Tooth Type	Wide nasal bridge, Depressed nasal bridge	OMIM:617392
Non-Functioning Pituitary Adenoma	Pallor, Anemia of inadequate production	ORPHA:91349
Acromelic Frontonasal Dysostosis	Wide nasal bridge, Bifid nasal tip, Broad nasal tip, Short tibia, Seizure, Preaxial hand polydact...	OMIM:603671
Cat Eye Syndrome	Hypoplastic left heart, Total anomalous pulmonary venous return, Umbilical hernia, Tetralogy of F...	OMIM:115470
Fanconi Anemia, Complementation Group L	Wide nasal bridge, Absent thumb, Hypoplastic sacrum, Intrauterine growth retardation, Depressed n...	OMIM:614083
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Gastrointestinal hemorrhage, Arteriovenous malformation, Pulmonary embolism, Subcutaneous hemorrh...	ORPHA:394
Panhypophysitis	Pallor, Normochromic anemia	ORPHA:95513
Acrofrontofacionasal Dysostosis 1	Wide nasal bridge, Short distal phalanx of finger, Broad thumb, Seizure, Malar flattening, Acetab...	OMIM:201180
Alagille Syndrome 1	Depressed nasal bridge, Short distal phalanx of finger, Failure to thrive, Tetralogy of Fallot, B...	OMIM:118450
Pagod Syndrome	Pulmonary artery hypoplasia, Abnormality of the spleen, Encephalocele, Abnormal aortic morphology...	ORPHA:991
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Delayed cranial suture closure, Difficulty walking, Tibial torsion, Obesity, Overlapping toe, Ing...	OMIM:618653
Peroxisome Biogenesis Disorder 2B	Wide nasal bridge, Adrenal insufficiency, Anteverted nares, Seizure	OMIM:202370
Focal Dermal Hypoplasia	Toe syndactyly, Congenital diaphragmatic hernia, Foot polydactyly, Short metacarpal, Broad nasal ...	OMIM:305600
Isolated Biliary Atresia	Periportal fibrosis, Small for gestational age, Failure to thrive, Cholestasis, Atretic gallbladd...	ORPHA:30391
Scimitar Syndrome	Pulmonary artery hypoplasia, Bronchogenic cyst, Pneumothorax, Partial anomalous pulmonary venous ...	ORPHA:185
Frontofacionasal Dysplasia	Hypoplasia of the frontal bone, Underdeveloped nasal alae, Midline defect of the nose, Malar flat...	OMIM:229400
Craniofacial Microsomia 1	Hypoplasia of the maxilla, Block vertebrae, Tetralogy of Fallot, Micrognathia, Genu valgum, Malar...	OMIM:164210
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microglossia, Exaggerated median tongue furrow, Long philtrum, Tented upper lip vermilion, Submuc...	OMIM:608670
Ciliary Dyskinesia, Primary, 20	Recurrent pneumonia, Atelectasis, Recurrent sinusitis, Pulmonary artery stenosis, Recurrent respi...	OMIM:615067
Viss Syndrome	Increased circulating IgE level, Micrognathia, Genu valgum, Mitral valve prolapse, Ventricular se...	OMIM:619472
Tyrosinemia, Type I	Failure to thrive, Ascites, Splenomegaly, Pancreatic islet-cell hyperplasia, Hepatomegaly, Cirrho...	OMIM:276700
Stickler Syndrome, Type I	Bifid uvula, Cleft palate, Submucous cleft hard palate, Pierre-Robin sequence	OMIM:108300
Spondylometaphyseal Dysplasia, Schmidt Type	Cleft soft palate	ORPHA:93316
Martin-Probst Syndrome	Wide nasal bridge, Dental malocclusion, Umbilical hernia, Micrognathia, Malar flattening, Hypothy...	OMIM:300519
Ring Chromosome 12 Syndrome	Symphalangism of the thumb, Secundum atrial septal defect, Clinodactyly, Lumbar hyperlordosis, Ab...	ORPHA:1439
Gaucher Disease, Type Iiic	Cardiomegaly, Hepatomegaly, Pancytopenia, Splenomegaly	OMIM:231005
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Recur...	OMIM:124000
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Myoclonic seizure, Intrauterine growth retardation, Patent foramen ovale, Atrial septal defect, L...	OMIM:620327
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Pulmonary hypoplasia, Esophageal varix, Neonatal death	OMIM:263200
Cutis Laxa, Autosomal Dominant 1	Emphysema, Peripheral pulmonary artery stenosis, Bronchiectasis, Long philtrum	OMIM:123700
Niemann-Pick Disease Type C	Progressive neurologic deterioration, Mental deterioration, Depression, Dementia, Chorea, Low fru...	ORPHA:646
Geleophysic Dysplasia 3	Wide nasal bridge, Depressed nasal bridge, Epiphyseal dysplasia, Bulbous nose, Anteverted nares, ...	OMIM:617809
Pearson Syndrome	Bone marrow hypocellularity, Growth delay, Exocrine pancreatic insufficiency, Postnatal growth re...	ORPHA:699
Sheehan Syndrome	Dry skin, Palpitations, Pallor, Orthostatic hypotension, Bradycardia, Normochromic anemia	ORPHA:91355
Brucellosis	Granuloma, Failure to thrive, Hypersplenism, Leukopenia, Leukocytosis, Splenomegaly, Abnormality ...	ORPHA:1304
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Failure to thrive, Hypertrophic cardiomyopathy, Large for gestational age, Inguinal hernia, Ventr...	OMIM:607721
Pituitary Apoplexy	Pallor, Normochromic anemia	ORPHA:95613
Branchio-Oculo-Facial Syndrome	Wide nasal bridge, Atypical scarring of skin, Broad nasal tip, Preaxial hand polydactyly, Intraut...	ORPHA:1297
Encephalocraniocutaneous Lipomatosis	Subcutaneous lipoma, Seizure, Ventricular septal defect, Subvalvular aortic stenosis, Atrial sept...	OMIM:613001
Renal-Hepatic-Pancreatic Dysplasia 1	Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole...	OMIM:208540
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia, Pallor	ORPHA:348
Tetrasomy 9P	Hypoplastic scapulae, Small hand, Micrognathia, Large fontanelles, Bilateral single transverse pa...	ORPHA:3310
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Smooth philtrum, Short philtrum, Cleft soft palate	ORPHA:293725
Waardenburg Syndrome, Type 2A	Wide nasal bridge, Underdeveloped nasal alae	OMIM:193510
Mucopolysaccharidosis Type 3	Craniofacial hyperostosis, Abnormal clavicle morphology, Abnormal form of the vertebral bodies, A...	ORPHA:581
Congenital Tracheomalacia	Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Em...	ORPHA:95430
Right Atrial Isomerism	Total anomalous pulmonary venous return, Tetralogy of Fallot, Situs inversus totalis, Complete at...	OMIM:208530
Skin Creases, Congenital Symmetric Circumferential, 2	Wide nasal bridge, Depressed nasal bridge, Carious teeth, Seizure, Micrognathia, 2-3 toe syndacty...	OMIM:616734
Barber-Say Syndrome	Wide nasal bridge, Delayed eruption of teeth, Failure to thrive, Bulbous nose, Anteverted nares	ORPHA:1231
Fraser Syndrome 1	Wide nasal bridge, Depressed nasal bridge, Dental malocclusion, Underdeveloped nasal alae, Seizur...	OMIM:219000
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Aortic valve stenosis, Broad-based gait, Long hallux, Genu valgum, Arachnodactyly, Bicuspid aorti...	ORPHA:261537
Ferguson-Bonni Neurodevelopmental Syndrome	Micrognathia, Coronary-pulmonary artery fistula, Congenital diaphragmatic hernia, Patent foramen ...	OMIM:619699
Peroxisome Biogenesis Disorder 4B	Seizure, Adrenal insufficiency, Single transverse palmar crease, Gait disturbance, Ataxia, Short ...	OMIM:614863
Fanconi Anemia, Complementation Group F	Absent thumb, Failure to thrive, Short thumb, Decreased response to growth hormone stimulation te...	OMIM:603467
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Hypocomplementemic Urticarial Vasculitis	Emphysema, Pleural effusion	ORPHA:36412
Stromme Syndrome	Wide nasal bridge, Preaxial polydactyly, Short columella, Prominent nasal bridge, Micrognathia, S...	OMIM:243605
Klippel-Trénaunay Syndrome	Cellulitis, Abnormal tricuspid valve morphology, Atrial septal defect, Upper limb asymmetry	ORPHA:90308
Incontinentia Pigmenti	Erythema, Retinal hemorrhage, Leukocytosis, Pallor, Eosinophilia, Short stature	OMIM:308300
Spinal Arteriovenous Metameric Syndrome	Spinal arteriovenous malformation, Arteriovenous malformation, Abnormal spinal cord morphology, C...	ORPHA:53721
Pituitary Deficiency Due To Rathke Cleft Cysts	Intracranial hemorrhage, Hydrocephalus	ORPHA:91350
Trichothiodystrophy 2, Photosensitive	Agenesis of maxillary lateral incisor	OMIM:616390
Gaucher Disease Type 3	Pancytopenia, Splenomegaly, Hepatomegaly, Delayed puberty, Thrombocytopenia, Anemia, Growth delay	ORPHA:77261
Lymphangioleiomyomatosis	Chylothorax, Atelectasis, Emphysema, Pulmonary lymphangiomyomatosis, Pneumothorax, Recurrent resp...	ORPHA:538
Paternal Uniparental Disomy Of Chromosome 5	Secundum atrial septal defect, Rhizomelic arm shortening, Kyphoscoliosis, Short lower limbs, Abno...	ORPHA:96190
Cardiac-Urogenital Syndrome	Wide nasal bridge, Hypoplastic left heart, Coronary sinus enlargement, Tracheomalacia, Biventricu...	OMIM:618280
Familial Mediterranean Fever	Leukocytosis, Splenomegaly, Peritonitis, Neutrophilia, Hepatomegaly	OMIM:249100
Neurooculorenal Syndrome	Ectopic posterior pituitary, Central hypothyroidism, Short 1st metacarpal, Recurrent hypoglycemia...	OMIM:620305
Multiple Mitochondrial Dysfunctions Syndrome 7	Hyperglycemia, Decreased liver function, Hypoglycemia	OMIM:620423
Frontonasal Dysplasia 3	Wide nasal bridge, Underdeveloped nasal alae	OMIM:613456
Monosomy 13Q14	Wide nasal bridge, Finger syndactyly, Intrauterine growth retardation, Prominent nasal bridge, Mi...	ORPHA:1587
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Dilated cardiomyopathy, Seizure, Left ventricular noncompaction, Myoclonus, Patent foramen ovale,...	OMIM:619167
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Short stature, Intracranial hemorrhage, Hypertension	ORPHA:90795
Phakomatosis Pigmentokeratotica	Raynaud phenomenon, Arrhythmia, Spina bifida	ORPHA:2874
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Wide nasal bridge, Depressed nasal bridge, Slender finger, Clinodactyly, Triangular nasal tip, Se...	OMIM:309580
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Arrhythmia, Dilated cardiomyopathy, Antenatal intracerebral hemorrhage	OMIM:608836
Hydroxykynureninuria	Motor stereotypy, Stomatitis	ORPHA:79155
Mowat-Wilson Syndrome	Aortic valve stenosis, Broad-based gait, Genu valgum, Decreased body weight, Bicuspid aortic valv...	ORPHA:2152
Osteopetrosis, Autosomal Recessive 7	Anemia, Hepatomegaly, Growth delay, Splenomegaly	OMIM:612301
Alagille Syndrome 2	Tetralogy of Fallot, Long nose, Atrial septal defect, Pulmonic stenosis	OMIM:610205
Transaldolase Deficiency	Biventricular hypertrophy, Atrial septal defect	ORPHA:101028
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Atelectasis, Open mouth, Protruding tongue, Recurrent lower respiratory tract infections, Macrogl...	ORPHA:258
Acromelic Frontonasal Dysplasia	Meningocele, Encephalocele	ORPHA:1827
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Failure to thrive, Talipes equinovarus, Lethargy, Atrial septal defect, Dextrocardia, Small for g...	OMIM:277380
Renal And Mullerian Duct Hypoplasia	Micrognathia, Short nose	OMIM:266810
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Aortic valve stenosis, Broad-based gait, Long hallux, Genu valgum, Ventricular septal defect, Ara...	ORPHA:261552
Cockayne Syndrome Type 3	Vascular calcification, Aortic root aneurysm, Premature coronary artery atherosclerosis, Subdural...	ORPHA:90324
Hydranencephaly	Postnatal growth retardation, Intrauterine growth retardation, Abnormal internal carotid artery m...	ORPHA:2177
Loeys-Dietz Syndrome 1	Retrognathia, Cervical spine instability, Micrognathia, Malar flattening, Mitral valve prolapse, ...	OMIM:609192
Tyshchenko Syndrome	Intrauterine growth retardation, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect	OMIM:615102
Hardikar Syndrome	Unilateral cleft lip, Intestinal malrotation, Cleft soft palate, Bilateral cleft palate, Bilatera...	OMIM:301068
Osteogenesis Imperfecta, Type Xvii	Short stature, Intraventricular hemorrhage, Syringomyelia	OMIM:616507
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Intrauterine growth retardation, Hypoplasia of teeth, Abnormal palmar dermatoglyphics, Atrial sep...	ORPHA:2728
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Bifid uvula, Dental crowding, Delayed eruption of teeth, Narrow mouth, Submucous cleft hard palat...	OMIM:300990
Liposarcoma	Sarcoma, Weight loss	ORPHA:69078
Sotos Syndrome	Abnormal vertebral morphology, Hip contracture, Ventricular septal defect, Talipes equinovarus, A...	ORPHA:821
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Deafness, X-Linked 7	Wide nasal bridge	OMIM:301018
Keratoderma Hereditarium Mutilans	Abnormal spinal cord morphology	ORPHA:494
Cardiomyopathy, Dilated, 2H	Muscular ventricular septal defect, Secundum atrial septal defect, Neonatal death	OMIM:620203
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Secundum atrial septal defect, Inability to walk, Generalized-onset seizure, Partial atrioventric...	OMIM:620066
Hypermethioninemia Due To Adenosine Kinase Deficiency	Secundum atrial septal defect, Failure to thrive, Seizure, Elevated circulating creatine kinase c...	OMIM:614300
Multiple Myeloma	Anemia, Weight loss, Splenomegaly, Lymphadenopathy	ORPHA:29073
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Wide nasal bridge, Underdeveloped nasal alae, Seizure, Hypogonadism, Prominent nasal bridge, Atax...	ORPHA:163746
Ventricular Septal Defect 3	Atrial septal defect, Ventricular septal defect	OMIM:614432
Townes-Brocks Syndrome 1	Broad thumb, Pseudoepiphyses of second metacarpal, Ventricular septal defect, Atrial septal defec...	OMIM:107480
Atelosteogenesis Type Ii	Long philtrum, Bilateral cleft palate, Thin upper lip vermilion, Cleft palate, Pulmonary hypoplasia	ORPHA:56304
Focal Dermal Hypoplasia	Erythema, Umbilical hernia, Telangiectasia of the skin, Spina bifida, Patent ductus arteriosus	ORPHA:2092
Porphyria, Congenital Erythropoietic	Cholelithiasis, Splenomegaly, Hepatomegaly, Short stature, Thrombocytopenia, Reduced erythrocyte ...	OMIM:263700
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Wide nasal bridge, Toe syndactyly, Seizure, Mitral atresia, Bulbous nose, Hypoplasia of the radiu...	ORPHA:140952
Reynolds Syndrome	Biliary cirrhosis, Cholestasis, Lymphopenia, Splenomegaly, Hepatomegaly, Jaundice	OMIM:613471
Pheochromocytoma	Congestive heart failure, Positive regitine blocking test, Renal artery stenosis, Episodic hypert...	OMIM:171300
Hypoplastic Left Heart Syndrome	Hypoplastic left heart, Mitral atresia, Mitral stenosis, Atrial septal defect, Maternal diabetes	ORPHA:2248
Marbach-Schaaf Neurodevelopmental Syndrome	Thin upper lip vermilion, Downturned corners of mouth, Submucous cleft hard palate	OMIM:619680
Holoprosencephaly 13, X-Linked	Hypoplastic left heart, Seizure, Thoracic hemivertebrae, Micrognathia, Butterfly vertebrae, Paten...	OMIM:301043
Charge Syndrome	Micrognathia, Ventricular septal defect, Overriding aorta, Atrial septal defect, Absent radius, H...	OMIM:214800
Atrial Septal Defect 6	Atrial septal defect	OMIM:613087
Lymphatic Malformation 6	Cellulitis, Micrognathia, Hypothyroidism, Atrial septal defect, Scoliosis	OMIM:616843
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgG level, Secundum atrial septal defect, Decreased circulating IgA level, ...	OMIM:611926
Congenital Disorder Of Glycosylation, Type Iim	Wide nasal bridge, Seizure, Epileptic spasm, Intrauterine growth retardation, Enamel hypoplasia, ...	OMIM:300896
Mckusick-Kaufman Syndrome	Hypoplastic left heart, Postaxial foot polydactyly, Failure to thrive, Finger syndactyly, Tetralo...	ORPHA:2473
X-Linked Cerebral Adrenoleukodystrophy	Myelopathy, Abnormal spinal cord morphology	ORPHA:139396
Branchiogenic-Deafness Syndrome	Submucous cleft hard palate	OMIM:609166
Cystinosis	Polydipsia, Gait disturbance, Motor stereotypy	ORPHA:213
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Dry skin, Meningocele, Facial erythema, Scaling skin	ORPHA:1010
Neurodegeneration And Seizures Due To Copper Transport Defect	Pneumothorax, Pulmonary hypoplasia	OMIM:620306
Von Hippel-Lindau Disease	Polycythemia, Cardiomyopathy, Palpitations, Pallor, Stroke, Arrhythmia, Myocarditis, Abnormal lef...	ORPHA:892
Congenital Erythropoietic Porphyria	Neoplasm of the skin, Leukopenia, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anisocyto...	ORPHA:79277
Congenital Tricuspid Valve Dysplasia	Small for gestational age, Intrauterine growth retardation, Abnormal tricuspid valve annulus morp...	ORPHA:555874
Riddle Syndrome	Erythema, Conjunctival telangiectasia, Telangiectasia, Intraventricular hemorrhage, Scaling skin,...	ORPHA:420741
Cushing Syndrome Due To Ectopic Acth Secretion	Small cell lung carcinoma, Malignant gastrointestinal tract tumors, Abnormal lymph node morpholog...	ORPHA:99889
Farber Disease	Recurrent upper respiratory tract infections, Nodular pattern on pulmonary HRCT, Atelectasis	ORPHA:333
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Wide nasal bridge, Depressed nasal bridge, Small pituitary gland, Trident pelvis, Short humerus, ...	OMIM:619479
Acrocephalopolydactylous Dysplasia	Micromelia, Short neck, Omphalocele, Postaxial hand polydactyly, Craniosynostosis, Short nose	OMIM:200995
Camurati-Engelmann Disease	Slender build, Leukopenia, Splenomegaly, Hepatomegaly, Cachexia, Delayed puberty, Anemia	ORPHA:1328
Formiminoglutamic Aciduria	Atrial septal defect	ORPHA:51208
Prolactinoma	Hypotension, Delayed puberty, Pallor	ORPHA:2965
Chromosome 17P13.1 Deletion Syndrome	Hydrocephalus, Spina bifida, Umbilical hernia	OMIM:613776
Esophageal Atresia	Barrett esophagus, Pulmonary hypoplasia, Cleft lip, Bronchitis, Intestinal malrotation, Esophagit...	ORPHA:1199
Yellow Nail Syndrome	Biliary tract neoplasm, Neoplasm, Hypoplasia of lymphatic vessels, Renal neoplasm, Sarcoma, Neopl...	ORPHA:662
X-Linked Intellectual Disability, Nascimento Type	Depressed nasal bridge, Clubbing of toes, Underdeveloped nasal alae, Seizure, Tetralogy of Fallot...	ORPHA:163956
Vacterl With Hydrocephalus	Hydrocephalus, Aqueductal stenosis, Intrauterine growth retardation, Spina bifida	ORPHA:3412
Glycogen Storage Disease Ii	Sinus tachycardia, Dilatation of the cerebral artery, Splenomegaly, Shortened PR interval, Subara...	OMIM:232300
Native American Myopathy	Bifid uvula, Downturned corners of mouth, Submucous cleft soft palate, High palate, Cleft palate	ORPHA:168572
Autosomal Recessive Polycystic Kidney Disease	Hepatic fibrosis, Periportal fibrosis, Cholestasis, Ascites, Hepatosplenomegaly, Hypersplenism, P...	ORPHA:731
Shprintzen Omphalocele Syndrome	Flared nostrils, Wide nasal bridge, Short columella, Lumbar hyperlordosis, Decreased body weight,...	OMIM:182210
Alternating Hemiplegia Of Childhood	Cardiomyopathy, Abnormal T-wave, Pallor, Cardiac conduction abnormality, Arrhythmia	ORPHA:2131
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Hamartoma of tongue, Pulmonary hypoplasia, Cleft palate, Accessory oral frenulum	OMIM:616546
Biliary, Renal, Neurologic, And Skeletal Syndrome	Unbalanced atrioventricular canal defect, Broad thumb, Ventricular septal defect, Neonatal death,...	OMIM:619534
Joubert Syndrome 6	Motor stereotypy, Ataxia	OMIM:610688
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Portal hypertension, Hepatic steatosis, Splenomegaly, Biliary h...	ORPHA:567983
Phosphoribosylpyrophosphate Synthetase Superactivity	Depressed nasal bridge, Gout, Convex nasal ridge, Ataxia, Small for gestational age, Short nose	OMIM:300661
Noonan Syndrome 10	Hypertrophic cardiomyopathy, Mitral stenosis, Mitral valve prolapse, Ventricular septal defect, C...	OMIM:616564
Nmda Receptor Encephalitis	Mania, Memory impairment, Depression, Confusion, Chorea, Short attention span, Delirium, Motor st...	ORPHA:217253
Cutis Laxa, Autosomal Recessive, Type Ia	Emphysema, Peripheral pulmonary artery stenosis, Recurrent respiratory infections	OMIM:219100
Heterotaxy, Visceral, 7, Autosomal	Total anomalous pulmonary venous return, Mitral atresia, Atrioventricular canal defect, Situs inv...	OMIM:616749
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant	Short stature, Intrauterine growth retardation, Subdural hemorrhage	OMIM:619714
Walker-Warburg Syndrome	Bifid uvula, Cleft palate, Submucous cleft hard palate	ORPHA:899
Cardiac Valvular Dysplasia 1	Valvular pulmonary stenosis, Tricuspid stenosis, Muscular ventricular septal defect, Hypoplasia o...	OMIM:212093
Johanson-Blizzard Syndrome	Dilated cardiomyopathy, Failure to thrive, Underdeveloped nasal alae, Intrauterine growth retarda...	OMIM:243800
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphology, Joint hypermobility, Ab...	ORPHA:2907
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Hypoplastic left heart, Parachute mitral valve, Retrognathia, Tetralogy of Fallot, Atrioventricul...	OMIM:265380
Primary Sjögren Syndrome	Normocytic anemia, Biliary cirrhosis, Lymphoma, Chronic active hepatitis, Lymphopenia, Leukopenia...	ORPHA:289390
Familial Tumoral Calcinosis	Hepatomegaly, Neoplasm of the skin, Splenomegaly	ORPHA:53715
Bardet-Biedl Syndrome 20	Male hypogonadism, Preaxial foot polydactyly, Obesity, 2-3 toe syndactyly, Postaxial polydactyly,...	OMIM:619471
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Subdural hemorrhage, Cerebral hemorrhage	OMIM:620278
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Rhizomelic arm shortening, Rhizomelic leg shortening, Redundant neck ski...	ORPHA:397715
Meckel Syndrome, Type 7	Aortic valve stenosis, Postaxial foot polydactyly, Situs inversus totalis, Large fontanelles, Ing...	OMIM:267010
Oligomeganephronia	Secundum atrial septal defect, Seizure, Micrognathia, Congenital diaphragmatic hernia, Small for ...	ORPHA:2260
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Unbalanced atrioventricular canal defect, Toe syndactyly, Seizure, Dextrotransposition of the gre...	OMIM:619657
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Bulbous nose, Right atrial enlargement, Atrial septal defect, Seizure	OMIM:615219
Holoprosencephaly 4	Depressed nasal bridge, Depressed nasal tip, Absent nasal septal cartilage	OMIM:142946
Hyperlipoproteinemia, Type Id	Failure to thrive, Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly	OMIM:615947
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Wide nasal bridge, Abnormal vertebral morphology, Short thumb, Anteverted nares, Joint hypermobil...	OMIM:616728
Chromosome 13Q14 Deletion Syndrome	Umbilical hernia, Bulbous nose, Overlapping toe, Micrognathia, Inguinal hernia, Patent foramen ov...	OMIM:613884
Primary Sclerosing Cholangitis	Hepatic fibrosis, Cholelithiasis, Hepatitis, Cholestasis, Ascites, Hepatosplenomegaly, Portal hyp...	ORPHA:171
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Pulmonary hypoplasia	ORPHA:86822
Renal Agenesis	Anal atresia, Pulmonary hypoplasia	ORPHA:411709
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Lipoma, Splenomegaly, Nephroblastoma	OMIM:612918
1P21.3 Microdeletion Syndrome	Broad nasal tip, Obesity, Micrognathia, Joint hypermobility, Short nose	ORPHA:293948
Lumbar Syndrome	Myelomeningocele, Spina bifida	ORPHA:83628
Large Congenital Melanocytic Nevus	Neoplasm of the skin, Cutaneous melanoma, Neoplasm, Sarcoma, Rhabdomyosarcoma	ORPHA:626
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Vacuolated lymphocytes, Pancreatitis, Splenomegaly	ORPHA:565612
Alzahrani-Kuwahara Syndrome	Coronary sinus enlargement, Tip-toe gait, Bulbous nose, Prominent nose, Micrognathia, Patent fora...	OMIM:619268
Paraneoplastic Pemphigus	Thymoma, B-cell lymphoma, Sarcoma	ORPHA:63455
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Short toe, Prominent nasal bridge, Attention deficit hyperactivity disorder, Gait disturbance, Fl...	ORPHA:464311
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Wide nasal bridge, Short thumb, Anteverted nares, Narrow nasal tip, Patent foramen ovale, Brachyd...	ORPHA:477993
Ring Chromosome 13 Syndrome	Wide nasal bridge, Depressed nasal bridge, Aplasia/hypoplasia involving bones of the hand, Anteve...	ORPHA:96176
Secondary Intestinal Lymphangiectasia	Lymphoma, Lymphopenia, B-cell lymphoma, Cirrhosis, Chylous ascites	ORPHA:90363
Dyrk1A-Related Intellectual Disability Syndrome	Toe syndactyly, Narrow nasal tip, Prominent nasal bridge, Polydactyly, Arachnodactyly, Gait distu...	ORPHA:464306
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Recurrent respiratory infections, Pulmonary fibrosis, Death in childhood, Atelectasis	OMIM:618278
Treacher Collins Syndrome 1	Cleft soft palate, Narrow mouth, Wide mouth, Abnormal parotid gland morphology, Cleft palate	OMIM:154500
Coronary Arterial Fistula	Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C...	ORPHA:2041
Cardiac Diverticulum	Aortic valve stenosis, Congenital defect of the pericardium, Umbilical hernia, Abnormal heart mor...	ORPHA:1686
Pyruvate Carboxylase Deficiency	Hepatomegaly, Hyperglycemia, Hypoglycemia	ORPHA:3008
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Tapered toe, Rib fusion, Clinodactyly of the 5th finger, Sacral dimple, Tapered finger	ORPHA:544488
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Bifid uvula, Submucous cleft hard palate	OMIM:617660
Marfan Syndrome	Aortic regurgitation, Arterial dissection, Dural ectasia, Aortic root aneurysm, Aortic dissection...	ORPHA:558
Dpagt1-Cdg	Prolonged QT interval, Stroke-like episode, Anemia, Intracranial hemorrhage	ORPHA:86309
Tetraamelia Syndrome 1	Cleft upper lip, Anal atresia, Peripheral pulmonary vessel aplasia, Cleft palate, Pulmonary hypop...	OMIM:273395
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Emphysema, Pleural effusion, Pulmonary fibrosis, Abnormal pu...	OMIM:181000
Tuberous Sclerosis Complex	Self-injurious behavior, Depression, Aggressive behavior, Attention deficit hyperactivity disorde...	ORPHA:805
Nelson Syndrome	Striae distensae, Intracranial hemorrhage, Hypertension	ORPHA:199244
Molybdenum Cofactor Deficiency, Type B	Seizure, Neonatal death, Bilateral tonic-clonic seizure, Myoclonic spasms, Short nose	OMIM:252160
Combined Oxidative Phosphorylation Deficiency 3	Dilated cardiomyopathy, Seizure, Concentric hypertrophic cardiomyopathy, Intrauterine growth reta...	OMIM:610505
Abeta Amyloidosis, Dutch Type	Stroke, Cerebral hemorrhage	ORPHA:100006
Toriello-Lacassie-Droste Syndrome	Failure to thrive, Anteverted nares, Brachydactyly, Short palm, Short nose	ORPHA:3339
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Patent ductus arteriosus, Coarctation of aorta, Spina bifida, Tethered cord	OMIM:619480
Autosomal Recessive Cutis Laxa Type 1	Peripheral pulmonary artery stenosis, Recurrent pneumonia, Small bowel diverticula, Emphysema, Pn...	ORPHA:90349
Combined Oxidative Phosphorylation Deficiency 9	Hypertrophic cardiomyopathy, Failure to thrive, Patent foramen ovale	OMIM:614582
Axenfeld-Rieger Syndrome, Type 3	Concave nasal ridge, Atrial septal defect, Malar flattening	OMIM:602482
Achondroplasia	Death in infancy, Pulmonary hypoplasia	OMIM:100800
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Tracheoesophageal fistula, Esophageal atresia, Duodenal atresia, Submucous cleft hard palate	OMIM:619227
Aortic Valve Disease 3	Aortic valve stenosis, Bicuspid aortic valve, Atrial septal defect	OMIM:618496
Ehlers-Danlos Syndrome, Vascular Type	Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Periodontitis, Emphysema, Nodular pattern ...	OMIM:130050
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Bifid uvula, Tooth malposition, Failure of eruption of permanent teeth, Submucous cleft hard pala...	ORPHA:2250
Nail-Patella Syndrome	Short stature, Spina bifida	OMIM:161200
Partial Atrioventricular Septal Defect	Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement...	ORPHA:1330
Waardenburg Syndrome, Type 1	Myelomeningocele, Spina bifida	OMIM:193500
Cardiomyopathy, Dilated, 2D	Dilated cardiomyopathy, Muscular ventricular septal defect, Patent foramen ovale, Interstitial ca...	OMIM:619371
Infection-Related Hemolytic Uremic Syndrome	Pallor, Hemolytic anemia, Thrombocytopenia, Leukocytosis	ORPHA:544482
Cushing Disease	Lymphopenia, Leukocytosis, Increased body weight, Abdominal obesity, Truncal obesity, Pituitary c...	ORPHA:96253
Autosomal Dominant Centronuclear Myopathy	Thin ribs	ORPHA:169189
Tsh-Secreting Pituitary Adenoma	Hypotension, Congestive heart failure, Palpitations, Pallor, Delayed puberty, Supraventricular ar...	ORPHA:91347
Meningioma	Syncope, Hydrocephalus, Cerebral hemorrhage	ORPHA:2495
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Premature adrenarche, Elevated circulating hepatic transaminase concentration, Central hypothyroi...	ORPHA:293987
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Anomalous origin of right pulmonary artery from ascending aorta, Anomalous origin of left pulmona...	ORPHA:99050
Atrial Septal Defect 8	Atrial septal defect, Anomalous pulmonary venous return	OMIM:614433
Fraser Syndrome	Wide nasal bridge, Depressed nasal bridge, Toe syndactyly, Dental malocclusion, Finger syndactyly...	ORPHA:2052
Acys Amyloidosis	Stroke, Cerebral hemorrhage	ORPHA:100008
Peroxisome Biogenesis Disorder 1B	Wide nasal bridge, Epiphyseal stippling, Seizure, Convex nasal ridge	OMIM:601539
Charge Syndrome	Bifid femur, Abnormal tibia morphology, Postnatal growth retardation, Intrauterine growth retarda...	ORPHA:138
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Pulmonary hypoplasia, Cleft upper lip, Stillbirth	OMIM:308050
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Dilation of Virchow-Robin spaces, Retinal arteriolar tortuosity, Ischemic stroke, Corneal neovasc...	OMIM:175780
Cloacal Exstrophy	Myelomeningocele, Spina bifida	ORPHA:93929
Deafness-Craniofacial Syndrome	Wide nasal bridge, Underdeveloped nasal alae	ORPHA:3241
Dextrocardia	Congenital hip dislocation, Abnormal rib morphology	ORPHA:1666
Meckel Syndrome 14	Pneumothorax, Pulmonary hypoplasia	OMIM:619879
Thyrotoxic Periodic Paralysis	Postprandial hyperglycemia, Graves disease, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, ...	ORPHA:79102
Congenital Alveolar Capillary Dysplasia	Aortic valve stenosis, Hypoplastic left heart, Abnormal vertebral morphology, Tetralogy of Fallot...	ORPHA:210122
Neurofibromatosis-Noonan Syndrome	Depressed nasal bridge, Secundum atrial septal defect, Malar flattening, Cubitus valgus, Short ne...	OMIM:601321
Zygomycosis	Colon perforation, Atelectasis, Pleural effusion, Ileitis, Gastritis, Enterocolitis, Pneumothorax...	ORPHA:73263
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Abnormality of th...	OMIM:246570
Acute Liver Failure	Hypotension, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Shock, Prol...	ORPHA:90062
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Pulmonary hypoplasia	OMIM:615503
Pituitary Adenoma 4, Acth-Secreting	Emotional lability, Abnormal fear-induced behavior	OMIM:219090
Cardiomyopathy, Dilated, 1Oo	Dilated cardiomyopathy, Atrial septal defect	OMIM:620247
Piebaldism	Wide nasal bridge, Ataxia	ORPHA:2884
Humeroradial Synostosis	Wide nasal bridge, Humeroradial synostosis	OMIM:236400
Structural Heart Defects And Renal Anomalies Syndrome	Tetralogy of Fallot, Overlapping toe, Cyanosis, Truncus arteriosus, Ventricular septal defect, At...	OMIM:617478
Neurofibromatosis, Type I	Renal artery stenosis, Spina bifida, Hydrocephalus, Short stature, Aqueductal stenosis, Hypertension	OMIM:162200
Lujo Hemorrhagic Fever	Atelectasis	ORPHA:319213
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay	Bilateral tonic-clonic seizure, Patent foramen ovale	OMIM:618832
Adult Syndrome	Wide nasal bridge, Toe syndactyly, Finger syndactyly, Prominent nasal bridge, Split foot	ORPHA:978
Penile Agenesis	Depressed nasal bridge, Ventricular septal defect, Maternal diabetes, Atrial septal defect, Bilat...	ORPHA:49
Congenital Heart Defects, Multiple Types, 6	Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Comp...	OMIM:613854
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Intrauterine growth retardation, Genu valgum, Hypoplasia of the ovary, Convex nasal ridge, Abdomi...	OMIM:619321
Solitary Bone Cyst	Abnormal spinal cord morphology	ORPHA:83468
Vexas Syndrome	Elevated circulating C-reactive protein concentration, Arthritis, Nasal chondritis	OMIM:301054
Scorpion Envenomation	Hyperglycemia, Elevated circulating aspartate aminotransferase concentration, Acute pancreatitis,...	ORPHA:466677
Curry-Jones Syndrome	Occipital meningocele, Lipomyelomeningocele	OMIM:601707
Waardenburg Syndrome	Wide nasal bridge, Prominent nasal bridge, Underdeveloped nasal alae	ORPHA:3440
Distal Deletion 15Q	Abnormality of the dentition, Thin upper lip vermilion, Bifid tongue, Short philtrum, Cleft palat...	ORPHA:1596
Blepharophimosis, Ptosis, And Epicanthus Inversus	Wide nasal bridge, Depressed nasal bridge, Increased circulating gonadotropin level	OMIM:110100
Heterotaxy, Visceral, 4, Autosomal	Total anomalous pulmonary venous return, Atrioventricular canal defect, Dextrotransposition of th...	OMIM:613751
Mckusick-Kaufman Syndrome	Aganglionic megacolon, Anal atresia, Rectovaginal fistula, Pulmonary hypoplasia	OMIM:236700
Hyperlipoproteinemia, Type I	Jaundice, Hepatosplenomegaly, Acute pancreatitis, Splenomegaly	OMIM:238600
Coccidioidomycosis	Abnormality of the vertebral column, Broad ribs, Osteomyelitis, Abnormal long bone morphology, Ab...	ORPHA:228123
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Microcolon, Ileal atresia, Pulmonary hypoplasia	OMIM:619351
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Depressed nasal bridge, Slender finger, Secundum atrial septal defect, Tibial torsion, Bicuspid a...	OMIM:613355
Lymphangiectasia, Pulmonary, Congenital	Wide nasal bridge, Depressed nasal bridge, Malar flattening	OMIM:265300
Cardiomyopathy, Familial Hypertrophic, 11	Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Atrial septal defect, Subaortic ventri...	OMIM:612098
Molybdenum Cofactor Deficiency, Type A	Myoclonic spasms, Seizure, Short nose	OMIM:252150
Meacham Syndrome	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Conotruncal defect, Situs inv...	ORPHA:3097
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Lymphopenia, Abnormal lymphocyte morphology, Leukopenia, R...	ORPHA:99826
Congenital Total Pulmonary Venous Return Anomaly	Mixed total anomalous pulmonary venous connection, Right ventricular failure, Tricuspid regurgita...	ORPHA:99125
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Hypoplastic left heart, Seizure, Difficulty walking, Tetralogy of Fallot, Patent foramen ovale, V...	OMIM:618748
Townes-Brocks Syndrome	Toe clinodactyly, Abnormal vertebral morphology, Ulnar deviation of finger, Toe syndactyly, Broad...	ORPHA:857
Familial Cutaneous Collagenoma	Atrial septal defect, Cardiomyopathy	ORPHA:53296
Atrial Septal Defect 9	Bicuspid aortic valve, Secundum atrial septal defect	OMIM:614475
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h...	OMIM:108900
Familial Cerebral Cavernous Malformation	Spinal cord lesion, Venous malformation, Cerebral hemorrhage	ORPHA:221061
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Cleft soft palate	OMIM:614557
Glycogen Storage Disease Due To Acid Maltase Deficiency	Macroglossia, Respiratory tract infection, Atelectasis	ORPHA:365
Truncus Arteriosus	Aplasia/hypoplasia involving bones of the extremities, Abnormal heart morphology, Tetralogy of Fa...	ORPHA:3384
Multiple Endocrine Neoplasia Type 2	Hypertensive crisis, Palpitations, Pallor, Hypertension associated with pheochromocytoma	ORPHA:653
Heterotaxy, Visceral, 6, Autosomal	Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana...	OMIM:614779
Lenz-Majewski Hyperostotic Dwarfism	High, narrow palate, Bifid uvula, Abnormal dental enamel morphology, Submucous cleft hard palate,...	ORPHA:2658
Meckel Syndrome, Type 1	Pulmonary hypoplasia, Natal tooth, Cleft upper lip, Intestinal malrotation, Thin upper lip vermil...	OMIM:249000
Orofaciodigital Syndrome Vi	Short stature, Coarctation of aorta, Occipital meningocele	OMIM:277170
Linear Skin Defects With Multiple Congenital Anomalies 1	Seizure, Congenital diaphragmatic hernia, Histiocytoid cardiomyopathy, Ventricular septal defect,...	OMIM:309801
Knobloch Syndrome 1	Spina bifida occulta, Occipital encephalocele, Patent ductus arteriosus, Occipital meningocele	OMIM:267750
Mowat-Wilson Syndrome	Wide nasal bridge, Delayed eruption of teeth, Seizure, Abnormal heart morphology, Ventricular sep...	OMIM:235730
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Bulbous nose, Overlapping toe, Loss of ambulation, Clinodactyly of the 5th finger, Unsteady gait,...	OMIM:616682
Hypothyroidism, Congenital, Nongoitrous, 5	Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Decrea...	OMIM:225250
Kindler Epidermolysis Bullosa	Finger syndactyly, Camptodactyly of finger, Short 5th metacarpal, Short 4th metacarpal, Abnormal ...	ORPHA:2908
Adams-Oliver Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Toe syndactyly, Seizure, Tetralogy of Fallot, Vent...	OMIM:100300
Heterotaxy, Visceral, 5, Autosomal	Total anomalous pulmonary venous return, Absence of the sacrum, Atrioventricular canal defect, De...	OMIM:270100
Congenital Pulmonary Valvar Stenosis	Atrial septal defect	ORPHA:3189
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Pallor, Hydrocephalus	OMIM:253280
Digeorge Syndrome	High, narrow palate, Bifid uvula, Recurrent pneumonia, Atelectasis, Recurrent sinusitis, Short ph...	OMIM:188400
Proboscis Lateralis	Choanal atresia, Abnormality of the maxillary sinus, Abnormal facial skeleton morphology, Probosc...	ORPHA:141099
Orotic Aciduria	Atrial septal defect, Failure to thrive, Ventricular septal defect	OMIM:258900
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Wide nasal bridge, Anteverted nares, Congenital diaphragmatic hernia, Abnormal heart morphology	OMIM:617641
Absence Of The Pulmonary Artery	Recurrent pneumonia, Pulmonary edema, Recurrent respiratory infections, Bronchiectasis, Pulmonary...	ORPHA:980
Relapsing Polychondritis	Atelectasis, Recurrent aphthous stomatitis, Anteriorly placed anus	ORPHA:728
Rajab Interstitial Lung Disease With Brain Calcifications 1	Intestinal malrotation, Emphysema, Abnormal pulmonary interstitial morphology, High palate, Esoph...	OMIM:613658
Microphthalmia, Syndromic 1	High, narrow palate, Tooth malposition, Narrow chest, Dental crowding, Clinodactyly, Prominent fi...	OMIM:309800
Eisenmenger Syndrome	Bacterial endocarditis, Abnormal circulating B-type natriuretic peptide concentration, Abnormal h...	ORPHA:97214
Marfan Syndrome	Dental crowding, Pulmonary artery dilatation, Emphysema, Pneumothorax, High palate, Narrow palate	OMIM:154700
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Persistent cloaca, Pulmonary hypoplasia	ORPHA:1112
Ciliary Dyskinesia, Primary, 52	Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Situs inversus t...	OMIM:620570
Nocardiosis	Pneumonia, Emphysema, Pleural effusion, Pneumothorax, Pleuritis	ORPHA:31204
Lymphatic Malformation 13	Depressed nasal bridge, Atrial septal defect, Patent foramen ovale, Neonatal death	OMIM:620244
Atrial Septal Defect 1	Aortic valve stenosis, Secundum atrial septal defect, Tetralogy of Fallot with pulmonary atresia,...	OMIM:108800
Marden-Walker Syndrome	Bifid uvula, Narrow mouth, Submucous cleft hard palate, Cleft palate, Pyloric stenosis	ORPHA:2461
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Recurrent upper respiratory tract infections, Seizure, Umbilical hernia, Ectrodactyly, Butterfly ...	OMIM:308205
Arima Syndrome	Hypertension, Anemia, Occipital meningocele, Growth delay	OMIM:243910
X-Linked Intellectual Disability, Golabi-Ito-Hall Type	Atrial septal defect, Seizure	ORPHA:93947
Neuroocular Syndrome 1	Retrognathia, Prominent fingertip pads, Umbilical hernia, Tibial torsion, Patent foramen ovale, A...	OMIM:619539
Acute Transverse Myelitis	Subarachnoid hemorrhage, Hypertension, Orthostatic hypotension	ORPHA:139417
Lethal Congenital Contracture Syndrome 9	Thin upper lip vermilion, Pulmonary hypoplasia	OMIM:616503
Heterotaxy, Visceral, 12, Autosomal	Hypoplastic left heart, Double inlet right ventricle, Dextrotransposition of the great arteries, ...	OMIM:619702
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Abnormal spinal cord morphology	ORPHA:88628
Ebstein Malformation Of The Tricuspid Valve	Imperforate tricuspid valve, Abnormal endocardium morphology, Atrial septal defect, Abnormal card...	ORPHA:1880
Sarcoidosis	Chylothorax, Parotitis, Emphysema, Abnormal pleura morphology, Enlargement of parotid gland, Pleu...	ORPHA:797
Acute Disseminated Encephalomyelitis	Myelitis, Abnormal spinal cord morphology	ORPHA:83597
Diamond-Blackfan Anemia 4	Atrial septal defect	OMIM:612527
Diphallia	Absent thumb, Abnormal heart morphology, Butterfly vertebrae, Inguinal hernia, Atrial septal defe...	ORPHA:227
Diaphragmatic Hernia 4, With Cardiovascular Defects	Pulmonary artery hypoplasia, Aortopulmonary window, Pulmonary hypoplasia	OMIM:620025
Mayer-Rokitansky-Küster-Hauser Syndrome	Abnormal form of the vertebral bodies, Vertebral segmentation defect, Atrial septal defect, Verte...	ORPHA:3109
Autosomal Dominant Cutis Laxa	Peripheral pulmonary artery stenosis, Bronchiolitis, Small bowel diverticula, Emphysema, Bronchie...	ORPHA:90348
Fabry Disease	Emphysema, Thick lower lip vermilion	ORPHA:324
Lowe Oculocerebrorenal Syndrome	Finger swelling, Camptodactyly of finger, Genu valgum, Aggressive behavior, Enamel hypoplasia, Mo...	OMIM:309000
Adrenomyeloneuropathy	Dorsal column degeneration, Atrophy of the spinal cord, Abnormal spinal cord morphology	ORPHA:139399
Pontocerebellar Hypoplasia Type 7	Wide nasal bridge, Depressed nasal bridge, Seizure, Micrognathia, Myoclonus	ORPHA:284339
Osteopetrosis With Renal Tubular Acidosis	Osteopetrosis, Short stature, Prominent floating ribs, Pectus excavatum, Recurrent fractures	ORPHA:2785
Norrie Disease	Self-injurious behavior, Narrow nasal bridge, Malar flattening, Irritability, Attention deficit h...	ORPHA:649
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly	OMIM:228250
Joubert Syndrome 21	Pulmonary hypoplasia	OMIM:615636
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Wide nasal bridge, Decreased serum estradiol, Elevated circulating luteinizing hormone level, Dec...	ORPHA:572333
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Tessier cleft, Long philtrum, Cleft upper lip, Ectopic anus, Esophageal atresia, Bifid tongue, An...	ORPHA:93271
Goodpasture Syndrome	Anemia, Pallor	OMIM:233450
Amoebiasis Due To Free-Living Amoebae	Increased red blood cell count, Arrhythmia, Skin ulcer, Abnormal spinal cord morphology	ORPHA:68
Lymphatic Malformation 7	Pericardial effusion, Atrial septal defect	OMIM:617300
Wiedemann-Rautenstrauch Syndrome	Abnormality of the dentition, Natal tooth, Downturned corners of mouth, Narrow mouth, Submucous c...	ORPHA:3455
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Bifid uvula, Cleft palate, Submucous cleft hard palate, Thick vermilion border	ORPHA:2636
Interatrial Communication	Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s...	ORPHA:1478
Aortic Valve Disease 2	Aortic valve stenosis, Bicuspid aortic valve, Pulmonic stenosis, Patent foramen ovale	OMIM:614823
Ebstein Anomaly	Ebstein anomaly of the tricuspid valve, Atrial septal defect	OMIM:224700
Mosaic Trisomy 20	Intrauterine growth retardation, Abnormal spinal cord morphology	ORPHA:1724
Smooth Muscle Dysfunction Syndrome	Atrial septal defect	OMIM:613834
Exstrophy-Epispadias Complex	Hydrocephalus, Spina bifida	ORPHA:322
Proteus Syndrome	Pulmonary cyst, Carious teeth, Bronchogenic cyst, Tooth agenesis, Abnormal dental enamel morpholo...	ORPHA:744
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent foramen ovale, Ventricular septal defect	OMIM:610338

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Crebbp

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Crebbp.

No publications found that use IMPC mice or data for Crebbp.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Crebbp^{tm180486(L1L2_gt1)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Crebbp^{tm1a(KOMP)Mbp}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Crebbp^{tm1e(KOMP)Mbp}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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