Not currently registered for phenotyping at IMPC

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

Gene Summary

CREB binding protein

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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.

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

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

Disease Similarity of
Matching phenotypes Source
Pancreas, Dorsal, Agenesis Of
Diabetes mellitus, Abnormality of the pancreas OMIM:167755
Diabetes Mellitus, Transient Neonatal, 2
Type II diabetes mellitus, Transient neonatal diabetes mellitus OMIM:610374
Type 2 Diabetes Mellitus
Type II diabetes mellitus, Insulin resistance OMIM:125853
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus OMIM:600089
Maturity-Onset Diabetes Of The Young, Type 4
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 7
Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:610508
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
Type 1 Diabetes Mellitus 2
Diabetes mellitus, Type I diabetes mellitus OMIM:125852
Type 1 Diabetes Mellitus 15
Diabetes mellitus, Type I diabetes mellitus OMIM:601666
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
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 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
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Hyperinsulinemic Hypoglycemia, Familial, 2
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Maturity-Onset Diabetes Of The Young, Type 1
Maturity-onset diabetes of the young OMIM:125850
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Delayed puberty, Decreased serum insulin-like growth factor 1, Insulin resistance ORPHA:140941
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Diabetes mellitus, Insulin resistance OMIM:612227
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... OMIM:147630
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:256450
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Increased glucagon level, Type II diabetes mellitus, Recurrent... OMIM:619290
Acid-Labile Subunit Deficiency
Insulin insensitivity, Decreased serum insulin-like growth factor 1, Delayed puberty OMIM:615961
Hyperglycemia, Hyperinsulinemia OMIM:616214
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:600496
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Failure to thrive, Anemia, Splenomegaly, Extramedullary he... OMIM:615285
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Increased hepatic glycogen content, Neonatal hypoglycemia, Abnormal cir... ORPHA:293964
Multiple Symmetric Lipomatosis
Hepatomegaly, Insulin resistance ORPHA:2398
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology, Glucagonoma, Increas... ORPHA:438274
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... ORPHA:411593
Dyssegmental Dysplasia With Glaucoma
Broad long bones, Hip contracture, Short stature, Platyspondyly, Delayed epiphyseal ossification,... OMIM:601561
Rhizomelic Syndrome
Short stature, Bifid distal phalanx of the thumb, Rhizomelia, Complete duplication of thumb phala... OMIM:268250
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Insulin resistance, Polycystic ovaries, Pancreatitis, Hepatic steatosis, Diabetes m... ORPHA:79084
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... OMIM:133180
Cortisone Reductase Deficiency 2
Premature pubarche, Insulin resistance OMIM:614662
RCAD (renal cysts and diabetes)
Abnormality of the liver, Diabetes mellitus DECIPHER:47
Osteogenesis Imperfecta, Type Iii
Biconcave vertebral bodies, Decreased calvarial ossification, Tibial bowing, Thin ribs, Neonatal ... OMIM:259420
Fanconi Anemia, Complementation Group G
Myelodysplasia, Neutropenia, Growth delay, Leukemia, Anemia, Thrombocytopenia OMIM:614082
Wolfram-Like Syndrome, Autosomal Dominant
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:614296
Chondrocalcinosis Due To Apatite Crystal Deposition
Costal cartilage calcification, Chondrocalcinosis, Costochondral pain, Osteoarthritis of the smal... OMIM:118610
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytoh... OMIM:153600
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormality of the elbow, Pectus carinatum, Short stature, Finger syndactyly, Abnormal rib morpho... ORPHA:3268
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Lymphoproliferative disorder, Lymphoma, Splenom... OMIM:614470
Spondylometaphyseal Dysplasia, Type A4
Broad ischia, Metaphyseal irregularity, Brachydactyly, Osteoporotic tarsals, Flat acetabular roof... OMIM:609052
Hyperinsulinemic Hypoglycemia, Familial, 6
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:606762
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Eosinophilia, Malignant eosinophil proliferation OMIM:131440
Rhizomelic Syndrome, Urbach Type
Triphalangeal thumb, Abnormality of the knee, Abnormality of the elbow, Short stature, Abnormalit... ORPHA:3098
Brachydactyly, Type B1
Cutaneous finger syndactyly, Short middle phalanx of finger, Vertebral fusion, Hemivertebrae, Bro... OMIM:113000
Optic Atrophy--Spastic Paraplegia Syndrome
Abnormal oral glucose tolerance OMIM:311100
Sponastrime Dysplasia
Abnormality of the vertebral column, Short nose, Decreased circulating antibody level, Obtuse ang... ORPHA:93357
Spondyloepiphyseal Dysplasia, Nishimura Type
Anterior plagiocephaly, Abnormality of cranial sutures, Slender finger, Anisospondyly, Increased ... ORPHA:163649
Acrodysostosis With Multiple Hormone Resistance
Short metatarsal, Malar flattening, Diabetes mellitus, Short toe, Narrow vertebral interpedicular... ORPHA:280651
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly OMIM:607685
Immunodeficiency 84
B lymphocytopenia, B-cell lymphoma, Perianal abscess, Splenomegaly OMIM:619437
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Elevated cir... ORPHA:171706
Immunodeficiency 76
B lymphocytopenia, Growth delay, Lymphadenopathy, Splenomegaly, B-cell lymphoma, Lymphopenia, T l... OMIM:619164
Glioma Susceptibility 9
Leukemia, Glioma, Astrocytoma OMIM:616568
Spondylometaphyseal Dysplasia, Corner Fracture Type
Hypoplasia of the odontoid process, Genu varum, Pectus carinatum, Short stature, Hyperconvex vert... OMIM:184255
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Brachyolmia Type 1, Hobaek Type
Intervertebral space narrowing, Sclerotic foci of metaphyses of the elbow, Short iliac bones, Pec... OMIM:271530
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Abnormal diaphysis morphology, Thin bony cortex, Overtubulated long bones, Wormian bones, Osteope... ORPHA:85184
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Nephro... ORPHA:158057
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Myelodysplasia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, H... ORPHA:231401
Osteogenesis Imperfecta, Type Viii
Multiple prenatal fractures, Femoral bowing, Delayed cranial suture closure, Tibial bowing, Wormi... OMIM:610915
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Fibrochondrogenesis 1
Broad ischia, Joint contracture of the hand, Short ribs, Camptodactyly, Short long bone, Anterior... OMIM:228520
Short middle phalanx of finger, Cervical spinal canal stenosis, Limited elbow extension, Trident ... ORPHA:15
Spondylometaphyseal Dysplasia, East African Type
Genu varum, Metaphyseal widening, Rounded epiphyses, Disproportionate short-limb short stature, O... OMIM:611702
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Saul-Wilson Syndrome
Pectus excavatum, Intrauterine growth retardation, Talipes equinovarus, Pectus carinatum, Short s... OMIM:618150
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Histiocytosis ORPHA:157991
Acromesomelic Dysplasia, Maroteaux Type
Vertebral wedging, Beaking of vertebral bodies, Bowing of the long bones, Abnormal form of the ve... ORPHA:40
Anauxetic Dysplasia 3
Plagiocephaly, Pectus excavatum, Short middle phalanx of finger, Midface retrusion, Beaking of ve... OMIM:618853
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Myelodysplasia, Leukopenia, Monocytosis, Refractory anemia, Bone marrow hypocellularity, Lymphoma... OMIM:616871
Lipodystrophy, Familial Partial, Type 6
Hepatic steatosis, Diabetes mellitus, Insulin resistance OMIM:615980
Immunodeficiency 8
Lymphopenia OMIM:615401
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Hepatomegaly, Neutropenia, Normocytic anemia, Megaloblastic erythro... ORPHA:75564
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormal ilium morphology, Abnormality of the knee, Short stature, Abnormal vertebral morphology,... ORPHA:163665
Immunodeficiency 40
Lymphopenia OMIM:616433
Lujan-Fryns Syndrome
Micrognathia, Brachycephaly, Prominent nasal bridge, Arachnodactyly, Seizure, Brachydactyly, Atri... ORPHA:776
Kyphomelic Dysplasia
Anterior rib cupping, Lateral clavicle hook, Large hands, Bowing of the long bones, Abnormal form... ORPHA:1801
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Thrombocytosis, Macrocytic anemia, Myelodysplasia, Leukopenia, Bone marrow hypocellularity, Multi... ORPHA:86841
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Excessive insuli... ORPHA:324575
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... OMIM:202700
Immunodeficiency 19
Failure to thrive, Lymphopenia OMIM:615617
Immunodeficiency 21
Abnormal natural killer cell morphology, Neutropenia, Myelodysplasia, Lymphopenia, Myeloid leukem... OMIM:614172
Endosteal Hyperostosis, Worth Type
Diaphyseal thickening, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal form of the... ORPHA:2790
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia ORPHA:35878
Plagiocephaly, Hypoplastic scapulae, Short stature, Abnormal form of the vertebral bodies, Abnorm... ORPHA:2021
Metatropic Dysplasia
Long thorax, Abnormal intervertebral disk morphology, Abnormal form of the vertebral bodies, Abno... ORPHA:2635
Pde4D Haploinsufficiency Syndrome
Upper limb undergrowth, Short middle phalanx of finger, Short metatarsal, Short nose, Abnormal de... ORPHA:439822
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Maternal diabetes, Excessive insuli... ORPHA:276580
Craniometadiaphyseal Dysplasia
Genu varum, Broad long bones, Short stature, Sclerosis of skull base, Cubitus valgus, Wormian bon... OMIM:269300
Immunodeficiency 24
Lymphoproliferative disorder, Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:... OMIM:615897
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Intrauterine growth retardation, Small for gestational age, Failure to thrive, Slender build, Cub... OMIM:608154
Spondylocostal Dysostosis 3, Autosomal Recessive
Short stature, Kyphosis, Slender finger, Scoliosis, Rib fusion, Hypoplasia of the odontoid proces... OMIM:609813
Primary Myelofibrosis
Leukocytosis, Thrombocytosis, Hepatomegaly, Cachexia, Hemangioma, Lymphadenopathy, Anemia, Spleno... ORPHA:824
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613375
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-c... ORPHA:276608
Cernunnos-Xlf Deficiency
B lymphocytopenia, Growth delay, Anemia, Lymphopenia, Thrombocytopenia, T lymphocytopenia ORPHA:169079
Dislocation Of The Hip-Dysmorphism Syndrome
Depressed nasal ridge, Abnormal tricuspid valve morphology, Malar flattening, Wide nasal bridge, ... ORPHA:2412
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Hip contracture, Short stature, Narrow pelvis bone, Arthrogryposis multiplex congenita, Knee flex... OMIM:602484
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Myelodysplasia, Anemia, Bone marrow hypocellulari... OMIM:619041
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Intervertebral space narrowing, Genu varum, Flat capital femoral epiphysis, Pectus carinatum, Irr... OMIM:609223
Lethal Kniest-Like Dysplasia
Anterior rib cupping, Broad long bones, Coronal cleft vertebrae, Talipes equinovarus, Severe shor... ORPHA:2347
Preaxial Hallucal Polydactyly
Diabetes mellitus OMIM:601759
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Genu varum, Platyspondyly, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Severe short... OMIM:618728
Osteogenesis Imperfecta, Type Ix
Short lower limbs, Pectus excavatum, Decreased calvarial ossification, Pectus carinatum, Dispropo... OMIM:259440
Carpenter Syndrome 1
Omphalocele, Genu varum, Midface retrusion, Malar flattening, Joint contracture of the hand, Devi... OMIM:201000
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Failure to thrive in inf... OMIM:618987
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia OMIM:616873
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Insulin-resistant diabetes mellitus at puberty, Polycystic ovaries, Hepatic ste... ORPHA:280356
Frontonasal Dysplasia 1
Broad nasal tip, Frontal cutaneous lipoma, Hypoplastic frontal sinuses, Short columella, Wide nas... OMIM:136760
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Diabetes insipidus, Hypoglycemia, Insulin resistance, Hypogonadism, Di... ORPHA:181393
Sandestig-Stefanova Syndrome
Convex nasal ridge, Intrauterine growth retardation, Small for gestational age, Rocker bottom foo... OMIM:618804
Lymphoblastic Leukemia, Acute, With Lymphomatous Features
T-cell acute lymphoblastic leukemias, Acute lymphoblastic leukemia, Lymphoma OMIM:247640
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... ORPHA:2585
Multicentric Osteolysis, Nodulosis, And Arthropathy
C1-C2 subluxation, Hip contracture, Delayed eruption of teeth, Bulbous nose, Protrusio acetabuli,... OMIM:259600
Amed Syndrome, Digenic
Myelodysplasia, Leukopenia, Short stature, Failure to thrive, Anemia, Bone marrow hypocellularity... OMIM:619151
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Wide nose, Osteoporosis, Dorsocervical fat pad, Seizure, Scoliosis... OMIM:616033
Intellectual Developmental Disorder, Autosomal Recessive 66
Aggressive behavior, Shyness, Gait ataxia, Attention deficit hyperactivity disorder OMIM:618221
Premature Aging Syndrome, Penttinen Type
Micrognathia, Narrow nose, Midface retrusion, Prominent nasal bridge, Delayed eruption of teeth, ... OMIM:601812
Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia OMIM:607785
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Fasting hypoglycemia, Hypoketotic hypoglycemia, Focal pancreatic islet hyperplasia,... ORPHA:276575
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
17Q21.31 Microduplication Syndrome
Toe syndactyly, Micrognathia, Failure to thrive, Short nose, Malar flattening, Sandal gap, Clinod... ORPHA:217340
Myeloproliferative Disease, Autosomal Recessive
Myeloproliferative disorder OMIM:254700
Cohen Syndrome
Short metatarsal, Cubitus valgus, Seizure, Thoracic scoliosis, Hypoplasia of the maxilla, Microgn... OMIM:216550
Morbid Obesity And Spermatogenic Failure
Hepatic steatosis, Type II diabetes mellitus, Insulin resistance OMIM:615703
Obesity Due To Melanocortin 4 Receptor Deficiency
Type II diabetes mellitus, Hyperinsulinemia ORPHA:71529
Otopalatodigital Syndrome, Type Ii
Nonossified fifth metatarsal, Short stature, Undulate clavicles, Short metatarsal, Short ribs, Po... OMIM:304120
Carious teeth, Decreased serum insulin-like growth factor 1, Midface retrusion, Obtuse angle of m... ORPHA:763
Li-Fraumeni Syndrome
Ovarian neoplasm, Acute lymphoblastic leukemia, Thyroid carcinoma, Astrocytoma, Choriocarcinoma, ... ORPHA:524
Microcephaly-Capillary Malformation Syndrome
Ventricular septal defect, Small for gestational age, Failure to thrive, Right ventricular hypert... OMIM:614261
Larsen-Like Syndrome
Radial deviation of the 4th finger, Talipes equinovarus, Brachycephaly, Short stature, Kyphoscoli... OMIM:608545
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Omenn Syndrome
B lymphocytopenia, Hepatomegaly, Lymphadenopathy, Failure to thrive, Hypoplasia of the thymus, An... OMIM:603554
Chromosome 16Q22 Deletion Syndrome
Growth delay, Wormian bones, Frontal bossing, Wide anterior fontanel, Narrow chest, Hip dysplasia... OMIM:614541
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Maxillonasal Dysplasia
Depressed nasal ridge, Depressed nasal bridge, Midface retrusion, Mandibular prognathia, Short co... ORPHA:1248
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatomegaly, Anemia, Abnormality of the lymph nodes, Splenomegaly, Hepatosplenomeg... OMIM:612840
Parastremmatic Dwarfism
Kyphosis, Genu valgum, Severe short stature, Flexion contracture, Short neck, Scoliosis OMIM:168400
Unclassified Myelodysplastic Syndrome
Leukocytosis, Myelodysplasia, Bone marrow hypocellularity, Multiple lineage myelodysplasia, Acute... ORPHA:98827
Florid Cemento-Osseous Dysplasia
Abnormal number of teeth, Abnormal cementum morphology, Periapical bone loss, Supernumerary tooth... ORPHA:83451
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Shortening of all phalanges of fingers, Limb undergrowth, Shortening of all metacarpals, Wormian ... OMIM:601356
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Polycystic ovaries, Elevated circulating... ORPHA:90301
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Osteolysis Syndrome, Recessive
Distal radial epiphyseal osteolysis, Broad nasal tip, Osteolytic defects of the middle phalanges ... OMIM:259610
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Knee dislocation, Thin ribs, Short stature, Tapered finger, Multiple joint dislocation, Irregular... OMIM:618395
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia, Myelodysplasia OMIM:610738
Obesity Due To Prohormone Convertase I Deficiency
Central adrenal insufficiency, Decreased response to growth hormone stimulation test, Pituitary h... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Central adrenal insufficiency, Decreased response to growth hormone stimulation test, Pituitary h... ORPHA:71526
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Mesomelic Dysplasia, Kantaputra Type
Tarsal synostosis, Abnormality of the humerus, Short stature, Ulnar deviation of finger, Cubitus ... ORPHA:1836
Spondyloepimetaphyseal Dysplasia, Irapa Type
Upper limb undergrowth, Abnormal joint morphology, Pectus carinatum, Abnormality of epiphysis mor... ORPHA:93351
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Thoracic hypoplasia, Irregular epiphyses, Micromelia, Small epiphyses, Bowing of the legs, Metaph... OMIM:608728
Aarskog-Scott Syndrome
Broad palm, Abnormal vertebral segmentation and fusion, Cognitive impairment, Small hand, Wide na... ORPHA:915
Aarskog-Scott Syndrome
Elevated circulating follicle stimulating hormone level, Short nose, Syndactyly, Anteverted nares... OMIM:305400
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia, Hepatic failure OMIM:261650
20P12.3 Microdeletion Syndrome
Broad hallux phalanx, Depressed nasal bridge, Broad thumb, Malar flattening, Wide nasal bridge, S... ORPHA:261295
Osteogenesis Imperfecta, Type Vii
Decreased calvarial ossification, Pectus excavatum, Short stature, Bowing of the legs, Multiple r... OMIM:610682
Atelosteogenesis, Type Iii
Cervical segmentation defect, Talipes equinovarus, Malar flattening, Hitchhiker thumb, Elbow disl... OMIM:108721
N Syndrome
Leukemia, Neoplasm OMIM:310465
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Underdeveloped nasal alae, Intrauterine growth retardation, Abnormality of the upper limb, Wide n... ORPHA:521308
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hypoglycemia, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis, H... OMIM:262190
Gomez-Lopez-Hernandez Syndrome
Brachycephaly, Cognitive impairment, Short nose, Craniosynostosis, Malar flattening, Wormian bone... OMIM:601853
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Enlarged metacarpal epiphyses, Broad toe, Cupped ribs, Short long bone, Flat acetabular roof, Con... OMIM:609616
Hypothyroidism, Congenital, Nongoitrous, 4
Wide anterior fontanel, Severe postnatal growth retardation OMIM:275100
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Myelodysplasia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Tr... ORPHA:99886
Grant Syndrome
Abnormality of the glenoid fossa, Large fontanelles, Brachycephaly, Short stature, Bowing of the ... ORPHA:2097
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocyto... OMIM:159550
Gillessen-Kaesbach-Nishimura Syndrome
Underdeveloped nasal alae, Micrognathia, Convex nasal ridge, Omphalocele, Ulnar deviation of the ... OMIM:263210
Cranial Nerves, Recurrent Paresis Of
Diabetes mellitus OMIM:218200
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Insulin resistance, Insulin-resistant diabetes mellitus, Polycystic ovaries, Hepati... ORPHA:79085
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia ORPHA:369873
Spondylocostal Dysostosis 1, Autosomal Recessive
Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Kyphoscoliosis, Back pain, ... OMIM:277300
Lymphedema, Primary, With Myelodysplasia
Leukemia, Myelodysplasia, Pancytopenia OMIM:614038
Spondylometaphyseal Dysplasia, A4 Type
Flared, irregular rib ends, Platyspondyly, Severe short stature, Coxa vara, Short palm, Limitatio... ORPHA:168555
Cutis Laxa, Autosomal Recessive, Type Iia
Carious teeth, Intrauterine growth retardation, Failure to thrive, Short nose, Malar flattening, ... OMIM:219200
Abnormality of the ulna, Epiphyseal stippling, Short metatarsal, Short nose, Abnormal form of the... ORPHA:950
Intellectual Developmental Disorder, X-Linked 104
High palate, Aggressive behavior, Poor eye contact, Wide nasal bridge, Tremor, Ataxia, Hyperactiv... OMIM:300983
Acquired Partial Lipodystrophy
Hepatic steatosis, Insulin resistance ORPHA:79087
Mismatch Repair Cancer Syndrome 2
T-cell acute lymphoblastic leukemias, Glioblastoma multiforme, Colon cancer OMIM:619096
Wt Limb-Blood Syndrome
Leukemia, Thrombocytopenia, Hypoplastic anemia, Pancytopenia OMIM:194350
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2
Pancytopenia, Leukemia, Bone marrow hypocellularity, Cirrhosis, Myeloid leukemia, Aplastic anemia OMIM:614743
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Insulin resistance, Splenomegaly, Hepatic steatosis, Hepatosplenomegaly, Diabetes m... OMIM:612526
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Upper limb undergrowth, Short stature, Short ribs, Cupped ribs, Iliac ... ORPHA:168549
Metatropic Dysplasia
Epiphyseal dysplasia, Short ribs, Halberd-shaped pelvis, Anisospondyly, Flared femoral metaphysis... OMIM:156530
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Hepatomegaly, Acute leukemia, Lymphadenopathy, Weight loss, Bone marrow hypocellula... ORPHA:3226
Fanconi Anemia, Complementation Group D1
Intrauterine growth retardation, Short stature, T-cell acute lymphoblastic leukemias, Failure to ... OMIM:605724
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Phosphoserine Phosphatase Deficiency
Postnatal growth retardation, Intrauterine growth retardation OMIM:614023
Autism Spectrum Disorder Due To Auts2 Deficiency
Joint contracture of the hand, Seizure, Anteverted nares, Umbilical hernia, Prominent nasal tip, ... ORPHA:352490
Thanatophoric Dysplasia Type 1
Short greater sciatic notch, Cloverleaf skull, Abnormal sacroiliac joint morphology, Bowing of th... ORPHA:1860
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Impaired social interactions, Stereotypy OMIM:606053
Chromosome 3Q29 Deletion Syndrome
Pectus excavatum, Short philtrum, Pectus carinatum, Tapered finger, Long fingers, Aggressive beha... OMIM:609425
Campomelic Dysplasia
Thoracic hypoplasia, Shortening of all phalanges of the toes, Shortening of all phalanges of fing... OMIM:114290
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Convex nasal ridge, Short 5th metacarpal, Metaphyseal dysplasia, Multiple small vertebral fractur... OMIM:156510
Aggressive Systemic Mastocytosis
Leukocytosis, Neutropenia, Thrombocytopenia, Ascites, Leukemia, Lymphadenopathy, Weight loss, Ane... ORPHA:98850
Body Mass Index Quantitative Trait Locus 19
Insulin resistance OMIM:617885
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
2-3 toe syndactyly, Brachycephaly, Tapered finger, Long fingers, Short nose, Wide nasal bridge, S... OMIM:218000
Kniest-Like Dysplasia, Lethal
Coronal cleft vertebrae, Talipes equinovarus, Rhizomelia, Metaphyseal irregularity, Platyspondyly... OMIM:245190
Systemic Mastocytosis With Associated Hematologic Neoplasm
Lymphadenopathy, Normochromic anemia, Chronic myelomonocytic leukemia, Splenomegaly, Eosinophilia... ORPHA:98849
Immunodeficiency 36
Chronic lymphatic leukemia, Growth delay, Short stature, Splenomegaly, B-cell lymphoma, Lymphopenia OMIM:616005
Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperg... ORPHA:552
Catel-Manzke Syndrome
Micrognathia, Ventricular septal defect, Metatarsus valgus, Failure to thrive, Abnormality of epi... ORPHA:1388
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... ORPHA:79644
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus OMIM:610582
Hepatic Adenomas, Familial
Maturity-onset diabetes of the young, Polycystic ovaries, Hepatocellular adenoma OMIM:142330
Heart Defects-Limb Shortening Syndrome
Abnormal form of the vertebral bodies, Abnormality of the metaphysis, Kyphosis, Mesomelic/rhizome... ORPHA:1354
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Plagiocephaly, Bicuspid aortic valve, Ventricular septal defect, Hypoglycemia, Abnormal heart mor... ORPHA:457279
Schneckenbecken Dysplasia
Anterior rib cupping, Lateral clavicle hook, Hypoplastic scapulae, Midface retrusion, Metaphyseal... OMIM:269250
Craniofacial-Deafness-Hand Syndrome
Depressed nasal ridge, Depressed nasal bridge, Ulnar deviation of finger, Short nose, Aplasia/Hyp... ORPHA:1529
Perlman Syndrome
Micrognathia, Short nose, Wide nasal bridge, Inguinal hernia, Seizure, Status epilepticus, Bilate... ORPHA:2849
Genu varum, Metaphyseal irregularity, Abnormal form of the vertebral bodies, Abnormality of femor... ORPHA:750
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Cloverleaf skull, Large fontanelles, Abnormality of epiphysis morphology, Bowing of the long bone... ORPHA:93267
Lowry-Maclean Syndrome
Small anterior fontanelle, Short nose, Seizure, Hypoplasia of the maxilla, Choanal atresia, Micro... ORPHA:2409
Acrodysostosis 1 With Or Without Hormone Resistance
Epiphyseal stippling, Short metatarsal, Delayed eruption of teeth, Elevated circulating thyroid-s... OMIM:101800
Spondylolysis, Short stature, Osteolytic defects of the distal phalanges of the hand, Wormian bon... OMIM:265800
Smith-Kingsmore Syndrome
Hypoglycemia, Depressed nasal bridge, Decreased circulating IgA level, Rhizomelia, Short nose, La... OMIM:616638
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, B lymphocytopenia, Failure to thrive, Lymphopenia, T lymphocytopenia, Absence of ... ORPHA:277
Stickler Syndrome Type 1
Mitral valve prolapse, Abnormality of epiphysis morphology, Short nose, Platyspondyly, Joint hype... ORPHA:90653
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Micrognathia, Ventricular septal defect, Long nose, Broad thumb, Prominent nasal bridge, Arachnod... OMIM:309520
Li-Fraumeni Syndrome
Adrenocortical carcinoma, Prostate neoplasm, Choriocarcinoma, Acute leukemia, Lung adenocarcinoma... OMIM:151623
Mental Retardation With Language Impairment And With Or Without Autistic Features
Self-injurious behavior, Aggressive behavior, Short nose, Malar flattening, Drooling, Speech apra... OMIM:613670
Autosomal Dominant Spondylocostal Dysostosis
Intrauterine growth retardation, Abnormal sacrum morphology, Posterior rib fusion, Short thorax, ... ORPHA:1797
Progressive Pseudorheumatoid Arthropathy Of Childhood
Abnormal ilium morphology, Irregularity of vertebral bodies, Genu varum, Abnormal hip joint morph... ORPHA:1159
Kagami-Ogata Syndrome
Omphalocele, Micrognathia, Ventricular septal defect, Depressed nasal bridge, Coxa valga, Long fi... OMIM:608149
Spondylocostal Dysostosis 5
Butterfly vertebrae, Vertebral fusion, Hemivertebrae, Pectus carinatum, Posterior rib fusion, Mis... OMIM:122600
Primary Erythromelalgia
Leukemia ORPHA:90026
Shashi-Pena Syndrome
Broad nasal tip, Hypoglycemia, Osteoporosis, Kyphosis, Seizure, Atrial septal defect, Retrognathi... OMIM:617190
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Babinski sign, Spastic tetraplegia, Hyperactivity, Inability to walk, Irritability OMIM:616657
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Dystonia, Inappropriate behavior, Rigidity, Chorea, Cognitive impairment, Myoclonus, Tremor, Atax... ORPHA:401901
Autosomal Dominant Severe Congenital Neutropenia
Acute lymphoblastic leukemia, Neutropenia, Myelodysplasia, Monocytosis, Leukemia, Hemangioma, Acu... ORPHA:486
Diastrophic Dysplasia
Midface retrusion, Symphalangism affecting the phalanges of the hand, Abnormal form of the verteb... ORPHA:628
Mantle Cell Lymphoma
Lymphadenopathy, Weight loss, B-cell lymphoma, Splenomegaly ORPHA:52416
Chondrodysplasia Punctata, Autosomal Dominant
Hip contracture, Hypoplasia of the nasal bone, Epiphyseal stippling, Talipes equinovarus, Knee fl... OMIM:118650
Eng-Strom Syndrome
Pectus excavatum, Intrauterine growth retardation, Short stature, Arthritis, Camptodactyly of fin... ORPHA:1937
Mandibuloacral Dysplasia
Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Acroosteolysis of ... ORPHA:2457
Frank-Ter Haar Syndrome
Talipes equinovarus, Camptodactyly, Anteverted nares, Delayed cranial suture closure, Short long ... OMIM:249420
Metaphyseal Chondrodysplasia, Schmid Type
Osteosclerosis of ribs, Genu varum, Metaphyseal irregularity, Short tubular bones of the hand, Fe... ORPHA:174
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Pectus excavatum, Spindle-shaped finger, Short stature, Abnormal vertebral morphology, Delayed ep... ORPHA:166024
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia OMIM:616941
Cenani-Lenz Syndrome
Abnormal form of the vertebral bodies, Short nose, Abnormal dental enamel morphology, Malar flatt... ORPHA:3258
Metaphyseal Chondrodysplasia, Spahr Type
Short lower limbs, Metaphyseal dysplasia, Genu varum, Abnormality of epiphysis morphology, Bowing... ORPHA:2501
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive, B lymphocytopenia, T lymphocytopenia, Failure to thrive secondary to recurrent... OMIM:601457
Lipodystrophy, Familial Partial, Type 7
Glucose intolerance, Impaired glucose tolerance, Pancreatitis, Insulin resistance OMIM:606721
Greenberg Dysplasia
Midface retrusion, Severe short-limb dwarfism, Anterior rib punctate calcifications, Rhizomelia, ... ORPHA:1426
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Short 5th metacarpal, Short nose, Perimembranous ventricular septal defect, Pulmonic stenosis, Sa... OMIM:617877
Nut Midline Carcinoma
Neuroblastoma, Pancreatic squamous cell carcinoma, Leukemia, Oropharyngeal squamous cell carcinom... ORPHA:443167
Asperger Syndrome, X-Linked, Susceptibility To, 2
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:608631
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Hypoketotic hypoglycemia, Excessive insulin response to glucagon test, Hyperinsulin... ORPHA:276556
Marshall-Smith Syndrome
Omphalocele, Short nose, Malar flattening, Atlantoaxial dislocation, Anteverted nares, Decreased ... OMIM:602535
Hip Dysplasia, Beukes Type
Abnormality of bone mineral density, Abnormality of epiphysis morphology, Kyphosis, Abnormality o... ORPHA:2114
Jackson-Weiss Syndrome
Broad metatarsal, Broad hallux phalanx, 2-3 toe syndactyly, Convex nasal ridge, Toe syndactyly, M... ORPHA:1540
Brachytelephalangic Chondrodysplasia Punctata
Abnormality of the vertebral column, C1-C2 subluxation, Epiphyseal stippling, Short distal phalan... ORPHA:79345
Spondyloepimetaphyseal Dysplasia, Irapa Type
Upper limb undergrowth, Metaphyseal dysplasia, Capitate-hamate fusion, Pectus carinatum, Short me... OMIM:271650
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Brachydactyly, Stereotypy DECIPHER:8
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thin ribs, Neonatal short-limb short stature, Short long bone, Limb undergrowth, Short ribs, Seve... OMIM:151210
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Maturity-onset diabetes of the young, Abnormality of exocrine pancreas physiology OMIM:609812
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Dysostosis, Stanescu Type
Carious teeth, Abnormal dental enamel morphology, Increased bone mineral density, Hypoplasia of t... ORPHA:1798
Marden-Walker Syndrome
Dextrocardia, Micrognathia, Intrauterine growth retardation, Talipes equinovarus, Congenital cont... OMIM:248700
Acrocapitofemoral Dysplasia
Pectus excavatum, Genu varum, Cone-shaped epiphysis, Pectus carinatum, Short stature, Short thora... ORPHA:63446
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Talipes equinovarus, Tapered finger, Prominent nasal bridge, Seizure, Camptodactyly of finger, Sh... ORPHA:85279
Genu varum, Fragmented epiphyses, Metaphyseal irregularity, Genu recurvatum, Fragmented, irregula... OMIM:177170
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Verrucae, Neutropenia, Lymphopenia OMIM:614868
Severe Neurodegenerative Syndrome With Lipodystrophy
Progressive psychomotor deterioration, Insulin resistance, Cognitive impairment, Myoclonus, Reduc... ORPHA:363400
Baker-Gordon Syndrome
Involuntary movements, Dystonia, Smooth philtrum, Choreoathetosis, Self-injurious behavior, Short... OMIM:618218
Behavioral Variant Of Frontotemporal Dementia
Gait disturbance, Inappropriate behavior, Abulia, Aggressive behavior, Abnormality of extrapyrami... ORPHA:275864
Epiphyseal Dysplasia, Multiple, 4
Limited elbow flexion, Flat capital femoral epiphysis, Hypoplasia of the femoral head, Talipes eq... OMIM:226900
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Insulin-resistant diabetes mellitus, Acroosteolysis of distal phalanges (feet), D... OMIM:608612
Tetrasomy 5P
Short hallux, Micrognathia, Talipes equinovarus, Failure to thrive, Long fingers, Short nose, Wid... ORPHA:3309
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Acute myeloid leukemia, Adenomatous colonic polyposis, Colon cancer OMIM:246470
Bangstad Syndrome
Increased circulating cortisol level, Polycystic ovaries, Abnormal testis morphology, Abnormality... ORPHA:1227
Pancreatic Agenesis 1
Exocrine pancreatic insufficiency, Neonatal insulin-dependent diabetes mellitus, Pancreatic hypop... OMIM:260370
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Short greater sciatic notch, Wide-cupped costochondral junction... OMIM:187601
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hallux valgus, Cone-shaped epiphyses of the 3rd toe, Cone-shaped epiphyses of the 4th toe, Mandib... ORPHA:397973
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology, Short stature ORPHA:2435
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Epiphyseal Dysplasia, Multiple, 7
Monkey wrench femoral neck, Genu varum, Vertebral wedging, Mild short stature, Epiphyseal dysplas... OMIM:617719
Craniodiaphyseal Dysplasia
Diaphyseal thickening, Short stature, Frontal bossing, Craniofacial hyperostosis, Abnormal rib mo... ORPHA:1513
Acrofacial Dysostosis Syndrome Of Rodriguez
Triphalangeal thumb, Short stature, Fibular hypoplasia, Overlapping toe, 11 pairs of ribs, Wide a... OMIM:201170
Acrocapitofemoral Dysplasia
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... OMIM:607778
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Insulin-resistant diabetes mellitus, Hyperglycemia, Polycystic ovaries, Cirrho... OMIM:604367
Osteoarthritis With Mild Chondrodysplasia
Heberden's node, Hip osteoarthritis, Schmorl's node, Irregular vertebral endplates, Beaking of ve... OMIM:604864
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominent nose, Cranial asymmetry, Delayed closure of the anterior fontanelle, Double outlet righ... OMIM:614886
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior, Hyperactivity ORPHA:436151
Spondyloepimetaphyseal Dysplasia, Strudwick Type
C1-C2 subluxation, Metaphyseal dappling, Anterior rib cupping, Pectus carinatum, Delayed pubic bo... OMIM:184250
Acute Monoblastic/Monocytic Leukemia
Leukocytosis, Weight loss, Anemia, Hypochromic anemia, Lymphocytosis, Acute monocytic leukemia, C... ORPHA:514
Autism, Susceptibility To, X-Linked 3
Lack of peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:300496
Autism, Susceptibility To, X-Linked 1
Lack of peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:300425
Autism, Susceptibility To, 8
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:607373
Chromosome 15Q11-Q13 Duplication Syndrome
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:608636
Impaired ability to form peer relationships, Impaired use of nonverbal behaviors, Stereotypy OMIM:209850
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Myelodysplasia, Mediastinal lymphadenopathy, Bone marrow hypocellularity, Anemia, Myeloid leukemi... OMIM:614742
Shprintzen-Goldberg Craniosynostosis Syndrome
Brachyturricephaly, Talipes equinovarus, Joint contracture of the hand, Camptodactyly, Anteverted... OMIM:182212
Greig Cephalopolysyndactyly Syndrome
Broad hallux phalanx, Joint contracture of the hand, Seizure, Broad hallux, Delayed cranial sutur... OMIM:175700
Autosomal Dominant Brachyolmia
Short stature, Kyphoscoliosis, Short thorax, Platyspondyly, Abnormality of the metaphysis, Increa... ORPHA:93304
Greenberg Dysplasia
Omphalocele, Epiphyseal stippling, Neonatal death, Malar flattening, Abnormal bone structure, Mul... OMIM:215140
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Broad nasal tip, Mandibular prognathia, Failure to thrive, Abnormal heart morphology, Short nose,... ORPHA:391372
Obesity Due To Congenital Leptin Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:66628
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, Lymphadenopathy, Failure to thrive secondary to recurrent infections, Splenomegaly,... OMIM:608971
Chromosome 16P13.3 Duplication Syndrome
Ventricular septal defect, Tapered finger, Long fingers, Short nose, Malar flattening, Proximal p... OMIM:613458
Multiple Endocrine Neoplasia Type 4
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Pituitary corticotrop... ORPHA:276152
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Fraxe Intellectual Disability
Clumsiness, Aggressive behavior, Stereotypical body rocking, Clinodactyly of the 5th finger, Hype... ORPHA:100973
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Femoral bowing, Depressed nasal bridge, Choanal stenosis, Rocker bottom foot, Brachycephaly, Narr... OMIM:207410
Cohen Syndrome
Cubitus valgus, Finger syndactyly, Seizure, Hypoplasia of the maxilla, Micrognathia, Ventricular ... ORPHA:193
Spondylocostal Dysostosis 2, Autosomal Recessive
Hemivertebrae, Vertebral clefting, Disproportionate short-trunk short stature, Rib fusion, Short ... OMIM:608681
Bdv Syndrome
Central hypothyroidism, Type II diabetes mellitus, Decreased circulating free T4 level, Hypogonad... OMIM:619326
Bruck Syndrome 1
Ankle flexion contracture, Hip contracture, Talipes equinovarus, Vertebral wedging, Pectus carina... OMIM:259450
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating progesterone, Adrenal hyperplasia, Elevated circulating follicle stimulatin... ORPHA:95699
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia OMIM:615158
Craniofacial-Deafness-Hand Syndrome
Ulnar deviation of the hand, Ulnar deviation of the hand or of fingers of the hand, Short nose, M... OMIM:122880
Intellectual Developmental Disorder, X-Linked 109
Long upper lip, Poor coordination, Aggressive behavior, Stereotypical body rocking, Hyperactivity... OMIM:309548
Autosomal Recessive Distal Osteolysis Syndrome
Broad nasal tip, Midface retrusion, Short distal phalanx of finger, Hypoplasia of the maxilla, Os... ORPHA:2776
Zellweger Syndrome
Flat occiput, Micrognathia, Ventricular septal defect, Depressed nasal bridge, Epiphyseal stippli... ORPHA:912
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane... ORPHA:444463
Opitz-Kaveggia Syndrome
Joint contracture of the hand, Seizure, Syndactyly, Broad hallux, Camptodactyly, Choanal atresia,... OMIM:305450
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Hypoplasia of the maxilla, Craniosynostosis, Prominent nasal bridge OMIM:608432
Thymic Aplasia With Fetal Death
Pulmonary hypoplasia, Stillbirth OMIM:274210
Multicentric Carpotarsal Osteolysis Syndrome
Micrognathia, Metatarsal osteolysis, Wrist swelling, Ulnar deviation of the hand, Ulnar deviation... OMIM:166300
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Diabetic ketoacidosis, Type I diabetes mellitus OMIM:618858
Mental Retardation, Autosomal Recessive 37
Hyperactivity, Aggressive behavior, Spasticity OMIM:615493
Coffin-Lowry Syndrome
Abnormal form of the vertebral bodies, Delayed eruption of teeth, Seizure, Brachydactyly, Antever... ORPHA:192
Atypical Rett Syndrome
Inappropriate crying, Poor eye contact, Panic attack, Impaired social interactions, Gait disturba... ORPHA:3095
Monosomy 5P
Intrauterine growth retardation, Abnormality of bone mineral density, Small hand, Wide nasal brid... ORPHA:281
Craniosynostosis And Dental Anomalies
Hallux valgus, 2-3 toe syndactyly, Brachycephaly, Trigonocephaly, Craniosynostosis, Supernumerary... OMIM:614188
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Thoracic hypoplasia, Knee dislocation, Small epiphyses, Coronal cleft vertebrae, Hip contracture,... OMIM:618363
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Micrognathia, Depressed nasal bridge, Short nose, Hernia, Cardiomyopathy, Proximal placement of t... OMIM:217980
Donnai-Barrow Syndrome
Omphalocele, Ventricular septal defect, Depressed nasal bridge, Congenital diaphragmatic hernia, ... ORPHA:2143
Congenital Generalized Lipodystrophy
Hypertrophic cardiomyopathy, Precocious puberty in females, Bone cyst, Insulin resistance, Mandib... ORPHA:528
Dohle Bodies And Leukemia
Acute myeloid leukemia, Anemia, Leukocyte inclusion bodies OMIM:223350
Cutaneous Neuroendocrine Carcinoma
Multiple myeloma, Lymphoid leukemia, Brain neoplasm, Basal cell carcinoma, Squamous cell carcinom... ORPHA:79140
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Tibial bowing, Short finger, Metaphyseal widening, Narrow greater sciatic notch, Rhizomelia, Meta... OMIM:608940
Acrodysostosis 2 With Or Without Hormone Resistance
Spinal canal stenosis, Congenital hypothyroidism, Depressed nasal bridge, Intrauterine growth ret... OMIM:614613
Desbuquois Dysplasia 1
Monkey wrench femoral neck, Genu varum, Talipes equinovarus, Short metatarsal, Short nose, Malar ... OMIM:251450
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Inappropriate crying, Micrognathia, Self-injurious behavior, Stereotypical hand wringing, Hyperki... ORPHA:397933
Spondylometaphyseal Dysplasia, Kozlowski Type
Irregular acetabular roof, Pectus carinatum, Kyphoscoliosis, Platyspondyly, Short neck, Coxa vara... OMIM:184252
Epiphyseal Dysplasia, Multiple, 6
Irregular epiphyses, Small epiphyses, Flat distal femoral epiphysis, Flat capital femoral epiphys... OMIM:614135
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Lymphadenopathy, Abscess, Splenomegaly, I... OMIM:150550
Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Hyperinsulinemic hypoglycemia, Fasting hy... ORPHA:97279
Acrocallosal Syndrome
Short nose, Finger syndactyly, Seizure, Microretrognathia, Umbilical hernia, Toe syndactyly, Fron... OMIM:200990
Dental Anomalies And Short Stature
Herniation of intervertebral nuclei, Intervertebral space narrowing, Mitral valve prolapse, Mandi... OMIM:601216
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Growth delay, Ascites, Short stature, Anemia, Decreased osteoclast count, Splenomeg... OMIM:259720
Cleft Velum
Cleft soft palate, Velopharyngeal insufficiency, Aspiration pneumonia ORPHA:99772
Keipert Syndrome
Short hallux, Broad hallux phalanx, Depressed nasal bridge, Broad thumb, Cognitive impairment, Br... ORPHA:2662
Ritscher-Schinzel Syndrome 3
Poorly ossified vertebrae, Micrognathia, Epiphyseal stippling, Atrioventricular canal defect, Sho... OMIM:619135
Mental Retardation, Autosomal Dominant 52
Hyperactivity, Anxiety OMIM:617796
Immunodeficiency 52
Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Lymphadenopathy, F... OMIM:617514
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Hepatomegaly, Failure to thrive, Reduced red cell adenosine deaminase level, S... OMIM:102700
Progeroid Syndrome, Petty Type
Shagreen patch, Intrauterine growth retardation, Mandibular prognathia, Failure to thrive, Reduce... ORPHA:2963
Filippi Syndrome
Underdeveloped nasal alae, Dystonia, Ventricular septal defect, Intrauterine growth retardation, ... OMIM:272440
Omphalocele, Broad ischia, Talipes equinovarus, Torticollis, Short nose, Abnormal left ventricula... ORPHA:79328
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:179494
Distal Monosomy 12Q
2-3 toe syndactyly, Short middle phalanx of finger, Bulbous nose, Diabetes mellitus, Broad hallux... ORPHA:96149
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Convex nasal ridge, Brachycephaly, Abnormal sacrum morphology, Abnormal form of the vertebral bod... ORPHA:93262
Acrocallosal Syndrome
Prominent occiput, Wide anterior fontanel, Triphalangeal thumb, Postaxial hand polydactyly ORPHA:36
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Thin ribs, Short stature, Delayed closure of the anterior fontanelle, Asymmetry of the thorax, In... OMIM:604922
Combined Immunodeficiency Due To Dock8 Deficiency
B lymphocytopenia, Anal canal squamous carcinoma, Verrucae, Squamous cell carcinoma, Squamous cel... ORPHA:217390
Epiphyseal Dysplasia, Multiple, 1
Irregular epiphyses, Small epiphyses, Hip osteoarthritis, Irregular vertebral endplates, Mild sho... OMIM:132400
Cleidocranial Dysplasia
Sinusitis, Carious teeth, Cleft palate, Abnormal dental enamel morphology, Delayed eruption of te... ORPHA:1452
Osteogenesis Imperfecta, Type Ii
Thoracic hypoplasia, Tibial bowing, Broad long bones, Thin ribs, Large fontanelles, Limb undergro... OMIM:166210
Dopa-Responsive Dystonia
Irritability, Panic attack, Abnormal social behavior, Oculogyric crisis, Anxiety, Lethargy, Gait ... ORPHA:255
Trigonocephaly With Short Stature And Developmental Delay
Small anterior fontanelle, Ventricular septal defect, Convex nasal ridge, Small for gestational a... OMIM:314320
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior, Spasticity ORPHA:356996
Essential Thrombocythemia
Myelodysplasia, Abnormal platelet morphology, Acute leukemia, Splenomegaly ORPHA:3318
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Intrauterine growth retardation, Abnormal form of the vertebral bodies, Short nose, Abnormality o... ORPHA:2370
Spondylocostal Dysostosis 4, Autosomal Recessive
Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Short stature, Missing ribs... OMIM:613686
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Intrauterine growth retardation, Thin ribs, Short stature, Hypoplastic iliac wing, Metaphyseal cu... OMIM:300863
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Disproportionate short stature, Rhizomelia, Platyspondyly, Kyphosis, Frontal bossing, Severe shor... OMIM:616482
Dyggve-Melchior-Clausen Disease
Abnormality of the vertebral column, Metaphyseal dysplasia, Hypoplastic acetabulae, Short thorax,... ORPHA:239
Hypertriglyceridemia 1
Glucose intolerance, Hypopituitarism OMIM:145750
Hyperlipoproteinemia, Type Iv
Glucose intolerance, Hypopituitarism OMIM:144600
Smith-Mccort Dysplasia 1
Irregular epiphyses, Hypoplasia of the odontoid process, Genu varum, Hypoplastic scapulae, Beakin... OMIM:607326
Short stature, Kyphoscoliosis, Generalized joint laxity, Joint dislocation, Abnormality of ulnar ... ORPHA:85198
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Failure to thrive, Anemia, Splenomegaly, Hepatosplenomegaly, Pancyt... OMIM:618963
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormality of the vertebral column, Cervical platyspondyly, Abnormal ilium morphology, Genu varu... ORPHA:93314
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Leukemia, Nephroblastoma, Meningioma OMIM:602501
Okur-Chung Neurodevelopmental Syndrome
Micrognathia, Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level... OMIM:617062
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Martsolf Syndrome 1
Metatarsus adductus, Micrognathia, Broad nasal tip, Depressed nasal bridge, Slender ulna, Talipes... OMIM:212720
Temtamy Preaxial Brachydactyly Syndrome
Cutaneous finger syndactyly, Tibial deviation of the 2nd toe, Short nose, Hypoplasia of the maxil... ORPHA:363417
Omphalocele-Cleft Palate Syndrome, Lethal
Death in infancy, Cleft palate, Bifid uvula OMIM:258320
Robinow Syndrome, Autosomal Recessive 1
Duplication of the distal phalanx of hand, Short nose, Malar flattening, Broad toe, Hypoplastic s... OMIM:268310
Fibular Hemimelia
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... ORPHA:93323
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Ac... OMIM:248370
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Small anterior fontanelle, Large beaked nose, Ventricular septal defect, Metopic suture patent to... ORPHA:3369
Acute Panmyelosis With Myelofibrosis
Acute myelomonocytic leukemia, Bone marrow hypocellularity, Splenomegaly, Acute myeloid leukemia,... ORPHA:86843
Spinal canal stenosis, Genu varum, Abnormality of femur morphology, Abnormality of the elbow, Bow... ORPHA:429
Leukemia, Acute Monocytic
Acute monocytic leukemia OMIM:151380
Leukemia, Acute, X-Linked
Acute leukemia OMIM:308960
Leukemia, Acute Lymphoblastic
Acute lymphoblastic leukemia OMIM:613065
Leukemia, Acute Myeloid
Acute myeloid leukemia OMIM:601626
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Thoracic kyphoscoliosis, Bilateral tonic-clonic seizure, Failure to thrive, Broad thumb, Arachnod... ORPHA:481152
Dyggve-Melchior-Clausen Disease
Genu varum, Shield chest, Talipes equinovarus, Short metatarsal, Prominent calcaneus, Enlargement... OMIM:223800
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Babinski sign, Gait disturbance, Dystonia, Inappropriate behavior, Rigidity, Aggressive behavior,... OMIM:600795
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Neuroblastoma, Myelodysplasia, Abnormal dense granule content, Lymphoma, Acute myeloid leukemia, ... OMIM:601399
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Neutropen... OMIM:607594
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Pectus excavatum, Micrognathia, High palate, Supernumerary tooth, Delayed eruption of teeth, Sand... OMIM:264475
Autosomal Recessive Cutis Laxa Type 2A
Athetosis, Dystonia, Intrauterine growth retardation, Increased susceptibility to fractures, Foca... ORPHA:357058
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Long palm, Mandibular prognathia, Slender build, Prominent nasal bridge, Kyphosis, Hypoplasia of ... OMIM:300676
Beta-Thalassemia Intermedia
Leukocytosis, Hepatomegaly, Erythroid hyperplasia, Hepatocellular carcinoma, Elevated hepatic iro... ORPHA:231222
Developmental And Epileptic Encephalopathy 73
Failure to thrive, Short nose, Seizure, Hip dysplasia, Narrow nasal bridge, Flexion contracture, ... OMIM:618379
Thoracomelic Dysplasia
Diaphyseal thickening, Limb undergrowth, Abnormality of pelvic girdle bone morphology, Disproport... ORPHA:1803
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Talipes equinovarus, Short stature, Limited elbow extension, Elbow flexion contracture, Pectus ca... ORPHA:93359
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Talipes equinovarus, Seizure, Decreased body weight, Ventricular septal defect, Intrauterine grow... OMIM:617452
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Splenomegaly, Sarcoma, M... ORPHA:66661
Cofs Syndrome
Micrognathia, Intrauterine growth retardation, Prominent metopic ridge, Wide nasal bridge, Arthro... ORPHA:1466
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus OMIM:610947
Trichorhinophalangeal Syndrome, Type Iii
Cone-shaped epiphyses of the middle phalanges of the hand, Smooth philtrum, Short finger, Long ph... OMIM:190351
Oculodentodigital Dysplasia, Autosomal Recessive
Macrodontia of permanent maxillary central incisor, Underdeveloped nasal alae, Micrognathia, Narr... OMIM:257850
Immunodeficiency 16
Coombs-positive hemolytic anemia, Kaposi's sarcoma, Pancytopenia, Splenomegaly OMIM:615593
Andersen Cardiodysrhythmic Periodic Paralysis
Short metatarsal, Malar flattening, Clinodactyly of the 5th toe, Bulbous nose, Hypoplasia of the ... OMIM:170390
Spondyloepiphyseal Dysplasia Tarda
Knee osteoarthritis, Abnormality of the tibial plateaux, Dysplasia of the femoral head, Abnormal ... ORPHA:93284
Intellectual Disability, Wolff Type
Large hands, Wide nasal bridge, Seizure, Bulbous nose, Short distal phalanx of finger, Camptodact... ORPHA:3080
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Hypoglycemia, Deviation of the 5th toe, Short nose, Slender finger, Seizure, Diabetes mellitus, A... ORPHA:391408
20P13 Microdeletion Syndrome
Failure to thrive in infancy, Polydactyly, Prominent nasal bridge, Finger syndactyly, Seizure, Wi... ORPHA:313781
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Micrognathia, Talipes equinovarus, Mandibular prognathia, Failure to thrive, Large hands, Cubitus... OMIM:300534
Pyle Disease
Metaphyseal dysplasia, Thickened calvaria, Metaphyseal widening, Platyspondyly, Abnormal thorax m... OMIM:265900
Immunodeficiency 13
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased CD... OMIM:615518
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus OMIM:606176
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Mullegama-Klein-Martinez Syndrome
Prominent nose, Micrognathia, Depressed nasal bridge, Polydactyly, Failure to thrive, Congenital ... OMIM:301022
Acropectorovertebral Dysplasia
Toe syndactyly, Capitate-hamate fusion, Abnormal vertebral morphology, Bifid distal phalanx of th... OMIM:102510
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus OMIM:618856
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Mandibulofacial Dysostosis-Microcephaly Syndrome
Micrognathia, Trigonocephaly, Short nose, Malar flattening, Seizure, Preaxial hand polydactyly, A... ORPHA:79113
Insulin-Like Growth Factor I, Resistance To
Micrognathia, Ventricular septal defect, Intrauterine growth retardation, Increased serum insulin... OMIM:270450
Primary Dystonia, Dyt13 Type
Postural tremor, Involuntary movements, Dystonia, Torticollis, Focal dystonia, Stereotypy, Cranio... ORPHA:98807
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Talipes equinovarus, Seizure, Decreased body weight, Toe syndactyly, Ventricular septal defect, I... ORPHA:505237
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Hepatic steatosis ORPHA:436182
Foxg1 Syndrome
Dystonia, Inappropriate crying, Paroxysmal bursts of laughter, Excessive salivation, Choreoatheto... ORPHA:561854
Acrofrontofacionasal Dysostosis 2
Short stature, Brachycephaly, Sacral dimple, Syndactyly, Wide anterior fontanel, Broad hallux, Ha... OMIM:239710
Heart And Brain Malformation Syndrome
Ventricular septal defect, Depressed nasal bridge, Hand clenching, Prominent metopic ridge, Wide ... OMIM:616920
Retinitis Pigmentosa
Hypogonadism, Abnormal testis morphology, Type II diabetes mellitus, Hyperinsulinemia ORPHA:791
Sprengel Deformity
Cervical segmentation defect, Hemivertebrae, Rib segmentation abnormalities, Sprengel anomaly, Sp... OMIM:184400
Thoracolaryngopelvic Dysplasia
Horizontal ribs, Irregular chondrocostal junctions, Irregular vertebral endplates, Metaphyseal wi... OMIM:187760
Donnai-Barrow Syndrome
Omphalocele, Ventricular septal defect, Broad nasal tip, Depressed nasal bridge, Congenital diaph... OMIM:222448
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Weight loss, Anemia, Splenomegaly ORPHA:100024
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Type II diabetes mellitus, Polycystic ovaries, Hypergonadotropic hypogonadism, Cryptorchidism, De... ORPHA:3085
Hereditary Spherocytosis
Hepatomegaly, Growth delay, Anemia, Cholelithiasis, Splenomegaly, Extramedullary hematopoiesis, I... ORPHA:822
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Micrognathia, 2-3 toe syndactyly, Tapered finger, Short nose, Kyphosis, Seizure, Attention defici... OMIM:617061
Van Maldergem Syndrome 2
Cutaneous finger syndactyly, Micrognathia, Abnormality of the hand, Short 4th metacarpal, Midface... OMIM:615546
Feingold Syndrome 2
2-3 toe syndactyly, Short stature, 3-4 toe syndactyly, Short middle phalanx of the 5th finger, Sh... OMIM:614326
Smith-Magenis Syndrome
Broad palm, Brachycephaly, Mandibular prognathia, Abnormal heart morphology, Malar flattening, Wi... OMIM:182290
8Q22.1 Microdeletion Syndrome
Depressed nasal ridge, Craniosynostosis, Wide nasal bridge, Finger syndactyly, Hypogonadism, Sand... ORPHA:178303
Severe Intellectual Disability And Progressive Spastic Paraplegia
Babinski sign, Shyness, Dystonia, Everted upper lip vermilion, High palate, Wide mouth, Short phi... ORPHA:280763
Craniodiaphyseal Dysplasia, Autosomal Dominant
Elevated circulating parathyroid hormone level, Depressed nasal bridge, Mandibular prognathia, Co... OMIM:122860
Cole-Carpenter Syndrome
Intrauterine growth retardation, Short stature, Bowing of the long bones, Abnormal form of the ve... ORPHA:2050
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Carious teeth, Long nose, Abnormal heart morphology, Perimembranous ventricular septal defect, Lo... ORPHA:363444
Juberg-Hayward Syndrome
Toe syndactyly, Intrauterine growth retardation, Abnormality of the elbow, Hammertoe, Abnormal ve... ORPHA:2319
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Lymphadenopathy, Lymphoma, Hepatosplenomeg... OMIM:619126
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Failure to thrive in infancy, Depressed nasal bridge, Small for gestational age, Hypoplasia of th... OMIM:617241
Osteogenesis Imperfecta, Type Xix
Biconcave vertebral bodies, Pectus excavatum, Vertebral wedging, Pectus carinatum, Rhizomelia, Os... OMIM:301014
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Tarsal synostosis, Large posterior fontanelle, Plagiocephaly, Brachycephaly, Abnormal clavicle mo... ORPHA:85199
Mend Syndrome
Micrognathia, 2-3 toe syndactyly, Failure to thrive, Abnormal heart morphology, Long fingers, Pro... ORPHA:401973
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Neutrophilia OMIM:619281
Pallister-Hall Syndrome
Neonatal death, Short nose, Distal shortening of limbs, Seizure, Adrenal hypoplasia, Syndactyly, ... OMIM:146510
Van Maldergem Syndrome 1
Cutaneous finger syndactyly, Micrognathia, Abnormality of the hand, Short 4th metacarpal, Midface... OMIM:601390
Skraban-Deardorff Syndrome
Micrognathia, Depressed nasal bridge, Spastic gait, Seizure, Hyperplasia of the maxilla, Broad-ba... OMIM:617616
Orofaciodigital Syndrome Iii
Pectus excavatum, Microdontia, Tongue nodules, Myoclonus, Supernumerary tooth, Bifid uvula, Short... OMIM:258850
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Micrognathia, Hip contracture, Adducted thumb, Short columella, Wide nasal bridge, Enlarged naris... OMIM:616266
Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly
Microdontia, Oligodontia, Short finger, Supernumerary tooth, Short proximal phalanx of finger, Sh... OMIM:191482
Anemia, Neutropenia, Splenomegaly OMIM:602079
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Lymphadenopathy, Failure to thrive, Splenomegaly, Autoimmune hemolytic anemia OMIM:618495
Cerebrofacioarticular Syndrome
Micrognathia, Large fontanelles, Talipes equinovarus, Abnormal heart morphology, Absence of puber... ORPHA:314679
X-Linked Intellectual Disability, Sutherland-Haan Type
Small for gestational age, Brachycephaly, Mandibular prognathia, Hypoplasia of the maxilla, Decre... ORPHA:93950
Combined Oxidative Phosphorylation Deficiency 8
Death in infancy, Pulmonary hypoplasia OMIM:614096
Acute Peripheral Arterial Occlusion
Leukocytosis, Absent ankle pulse, Supraventricular tachycardia, Myocardial infarction, Stroke, Ab... ORPHA:90064
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Flat occiput, Tibial bowing, Fibular bowing, Thin bony cortex, Deformed rib cage, Enlargement of ... OMIM:600081
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... ORPHA:231154
Thanatophoric Dysplasia, Type I
Small abnormally formed scapulae, Short greater sciatic notch, Wide-cupped costochondral junction... OMIM:187600
Hereditary Geniospasm
Abnormal social behavior, Abnormality of lower lip, Chin myoclonus ORPHA:53372
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Poor coordination, Paroxysmal dyskinesia, Chorea, Aggressive behavior, Falls, Inappropr... OMIM:619150
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies
Broad nasal tip, Tapered finger, Wide nasal bridge, Narrow jaw, Thick nasal alae OMIM:618147
Palatopharyngeal Incompetence
Cleft palate, Velopharyngeal insufficiency