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Gene: Crebbp MGI:1098280

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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:
KAT3A,  CBP

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.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Rubinstein-Taybi Syndrome 1
Prominent fingertip pads, Premature thelarche, Ventricular septal defect, Single transverse palma... OMIM:180849
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Agoraphobia, Carious teeth, Broad hallux, Emotional lability, Impaired social interactions, Hyper... ORPHA:353281
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
High palate, Agoraphobia, Carious teeth, Broad hallux, Emotional lability, Impaired social intera... ORPHA:353277
Menke-Hennekam Syndrome 1
Depressed nasal ridge, Depressed nasal bridge, Broad hallux, Short nose, Sandal gap, Umbilical he... OMIM:618332

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pancreas, Dorsal, Agenesis Of
Abnormality of the pancreas, Diabetes mellitus OMIM:167755
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, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... OMIM:610021
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
Type I diabetes mellitus, Diabetes mellitus OMIM:125852
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Nesidioblastosis OMIM:601820
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
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:140941
Maturity-Onset Diabetes Of The Young, Type 1
Maturity-onset diabetes of the young OMIM:125850
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... ORPHA:263458
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Beta-cell dysfunction, Diabetes mellitus OMIM:612227
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:256450
Mahvash Disease
Type II diabetes mellitus, Recurrent pancreatitis, Pancreatic alpha-cell hyperplasia, Increased g... OMIM:619290
Acid-Labile Subunit Deficiency
Insulin insensitivity, Decreased serum insulin-like growth factor 1, Delayed puberty OMIM:615961
Hyperinsulinemic Hypoglycemia, Familial, 4
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609975
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Insulinomatosis And Diabetes Mellitus
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... OMIM:147630
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia OMIM:600496
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutrope... OMIM:615285
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Multiple Symmetric Lipomatosis
Insulin resistance, Hepatomegaly ORPHA:2398
Gcgr-Related Hyperglucagonemia
Cholelithiasis, Neoplasm of the pancreas, Abnormal biliary tract morphology, Glucagonoma, Increas... ORPHA:438274
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper... ORPHA:79299
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Rhizomelic Syndrome
Wide anterior fontanel, Short stature, Rhizomelia, Bifid distal phalanx of the thumb, Complete du... OMIM:268250
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia, Neonatal death OMIM:265430
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Refractory anemia with ringed sideroblasts,... OMIM:133180
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Polycystic ovaries, Diabetes mellitus, Insulin resi... ORPHA:79084
Cortisone Reductase Deficiency 2
Insulin resistance, Premature pubarche OMIM:614662
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Increased hepatic glycogen content, Hypoketotic hypog... ORPHA:293964
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:606762
Chondrocalcinosis Due To Apatite Crystal Deposition
Intervertebral disk calcification, Osteoarthritis of the small joints of the hand, Costal cartila... OMIM:118610
RCAD (renal cysts and diabetes)
Abnormality of the liver, Diabetes mellitus DECIPHER:47
Fanconi Anemia, Complementation Group G
Myelodysplasia, Neutropenia, Growth delay, Anemia, Thrombocytopenia, Leukemia OMIM:614082
Dyssegmental Dysplasia With Glaucoma
Delayed epiphyseal ossification, Wide anterior fontanel, Hip contracture, Short stature, Flared m... OMIM:601561
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Short stature, Scoliosis, Pectus carinatum, Radioulnar synostosis... ORPHA:3268
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Lymphocytosis, Splenomegaly, Lymphoproliferative disorder, Monocytosis, Autoimmune ... OMIM:614470
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Myeloproliferative Syndrome, Transient
Transient myeloproliferative syndrome, Leukocytosis OMIM:159595
Osteogenesis Imperfecta, Type Iii
Kyphosis, Wide anterior fontanel, Tibial bowing, Recurrent fractures, Disproportionate short-limb... OMIM:259420
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia OMIM:307500
Rhizomelic Syndrome, Urbach Type
Short distal phalanx of finger, Kyphosis, Wide anterior fontanel, Short stature, Short neck, Abno... ORPHA:3098
Optic Atrophy--Spastic Paraplegia Syndrome
Abnormal oral glucose tolerance OMIM:311100
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Eosinophilia, Malignant eosinophil proliferation OMIM:131440
Glioma Susceptibility 9
Glioma, Renal neoplasm, Neoplasm of the lung, Leukemia, Astrocytoma OMIM:616568
Brachydactyly, Type B1
Wide anterior fontanel, Joint contracture of the hand, Hypoplastic sacrum, Hemivertebrae, Delayed... OMIM:113000
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly OMIM:607685
Immunodeficiency 84
B-cell lymphoma, Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Spondylometaphyseal Dysplasia, Type A4
Metaphyseal sclerosis, Platyspondyly, Hypoplasia of the capital femoral epiphysis, Pectus carinat... OMIM:609052
Sponastrime Dysplasia
Depressed nasal bridge, Platyspondyly, Biconcave vertebral bodies, Hypoplasia of the nasal bone, ... ORPHA:93357
Immunodeficiency 76
B-cell lymphoma, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Growth delay, L... OMIM:619164
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Spondylometaphyseal Dysplasia, Corner Fracture Type
Coxa vara, Metaphyseal irregularity, Short stature, Scoliosis, Genu varum, Pectus carinatum, Shor... OMIM:184255
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Myelodysplasia, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, A... ORPHA:231401
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Multiple myeloma, Hemophagocytosis, T-cell lymphoma, Pancytopenia, Burkitt lymphoma, Splenomegaly... ORPHA:158057
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Spondylometaphyseal Dysplasia, East African Type
Coxa vara, Disproportionate short-limb short stature, Metaphyseal spurs, Metaphyseal widening, Br... OMIM:611702
Brachyolmia Type 1, Hobaek Type
Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platyspondyly, Back pain, Osteop... OMIM:271530
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Generalized Eruptive Histiocytosis
Histiocytosis, Leukemia, Hypereosinophilia ORPHA:157991
Saul-Wilson Syndrome
Short distal phalanx of finger, Intrauterine growth retardation, Cone-shaped epiphyses of the pha... OMIM:618150
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Narrow chest, Wide anterior fontanel, Abnormal femoral neck/head morphology, Abnormal bone ossifi... ORPHA:163649
Metatropic Dysplasia
Enlarged joints, Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Disproportionate sh... OMIM:156530
Osteogenesis Imperfecta, Type Viii
Femoral bowing, Barrel-shaped chest, Platyspondyly, Osteopenia, Decreased calvarial ossification,... OMIM:610915
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Monocytosis, Lymphoma, Myelodysplasia, Bone marrow hypocellularity, Refractory anemia... OMIM:616871
Immunodeficiency 18
Lymphopenia, Decreased proportion of CD3-positive T cells OMIM:615615
Immunodeficiency 8
Lymphopenia OMIM:615401
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Hepatomegaly, Leukocytosis, Splen... ORPHA:75564
Estrogen Resistance
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance OMIM:615363
Immunodeficiency 40
Lymphopenia OMIM:616433
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Fibrochondrogenesis 1
Short neck, Platyspondyly, Rhizomelia, Dumbbell-shaped long bone, Posterior rib cupping, Short lo... OMIM:228520
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Short stature, Restricted large joint movement, Platyspondyly, Abnormality of the ankles, Abnorma... ORPHA:163665
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Maturity-onset diabetes of the you... ORPHA:324575
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Anisocytosis, Leukopenia, Multiple lineage myelodysplasia, Macrocytic anemia, Erythroid hypoplasi... ORPHA:86841
Acrodysostosis With Multiple Hormone Resistance
Elevated circulating parathyroid hormone level, Depressed nasal bridge, Cone-shaped epiphysis, Hy... ORPHA:280651
Kyphomelic Dysplasia
Narrow chest, Joint stiffness, Undulate ribs, Anterior rib cupping, Abnormal form of the vertebra... ORPHA:1801
Hyperinsulinism-Hyperammonemia Syndrome
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia ORPHA:35878
Immunodeficiency 21
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Myelodys... OMIM:614172
Immunodeficiency 19
Failure to thrive, Lymphopenia OMIM:615617
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... OMIM:202700
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to gluc... ORPHA:276580
Achondroplasia
Rhizomelia, Short long bone, Thoracic hypoplasia, Spinal canal stenosis, Narrow greater sciatic n... ORPHA:15
Spondylocostal Dysostosis 3, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Kyphosis, Contracture of the proximal interphalangeal ... OMIM:609813
Immunodeficiency 24
Lymphopenia, Lymphoproliferative disorder, Reduced proportion of mucosal-associated invariant T c... OMIM:615897
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Wide anterior fontanel, Increased bone mineral density, Osteopenia, Broad femoral neck, Wormian b... ORPHA:85184
Metatropic Dysplasia
Narrow chest, Kyphosis, Abnormal enchondral ossification, Halberd-shaped pelvis, Clinodactyly of ... ORPHA:2635
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Slender build, Failure to thrive, Slender long bones with narrow diaphyses, Small for gestational... OMIM:608154
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... ORPHA:276608
Anauxetic Dysplasia 3
Narrow chest, Beaking of vertebral bodies, Wide anterior fontanel, Pectus excavatum, Metaphyseal ... OMIM:618853
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Lymphedema, Primary, With Myelodysplasia
Myelodysplasia, Pancytopenia, Verrucae, Leukemia, Acute myeloid leukemia, Decreased CD4:CD8 ratio OMIM:614038
Growth Hormone Insensitivity Syndrome
Type II diabetes mellitus, Hypoglycemia, Hypogonadism, Insulin resistance, Diabetes mellitus, Dia... ORPHA:181393
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Myelodysplasia, Neutropenia, Bone marrow hypocel... OMIM:619041
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613375
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Growth delay, Anemia, Thrombocytopenia ORPHA:169079
Primary Myelofibrosis
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hemangioma, Cachexia, Hep... ORPHA:824
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormal cardiac septum morphology, Malar flattening, Prominence of the premaxilla, Depressed nas... ORPHA:2412
Craniometadiaphyseal Dysplasia
Wide anterior fontanel, Sclerosis of skull base, Short stature, Osteopenia, Flared metaphysis, Sc... OMIM:269300
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, B lymphocytopenia, Pancytopenia OMIM:616873
Lethal Kniest-Like Dysplasia
Narrow chest, Severe short-limb dwarfism, Wide anterior fontanel, Hypoplastic vertebral bodies, T... ORPHA:2347
Preaxial Hallucal Polydactyly
Diabetes mellitus OMIM:601759
Immunodeficiency 105
B-cell lymphoma, Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Absence o... OMIM:619924
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Coxa vara, Severe short stature, Short long bone, Platyspondyly, Scoliosis, Genu varum, Enlarged ... OMIM:618728
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Cervical lymphadenopathy, Failure to thrive... OMIM:618987
Lymphoblastic Leukemia, Acute, With Lymphomatous Features
T-cell acute lymphoblastic leukemias, Acute lymphoblastic leukemia, Lymphoma OMIM:247640
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Splenomegaly, Acute myelomonocytic leukemia, Abnormal macrophage morphology, ... ORPHA:2585
Amed Syndrome, Digenic
Failure to thrive, Short stature, Leukopenia, Myelodysplasia, Bone marrow hypocellularity, Anemia... OMIM:619151
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Abnormal circulating hormone co... ORPHA:280356
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Irregular vertebral endplates, Decreased hip abduction, Lumbar hyperlordosis, Flat capital femora... OMIM:609223
Osteogenesis Imperfecta, Type Ix
Kyphosis, Recurrent fractures, Pectus excavatum, Disproportionate short-limb short stature, Decre... OMIM:259440
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Narrow chest, Hip contracture, Lumbar hyperlordosis, Congenital foot contractures, Short stature,... OMIM:602484
Fibrochondrogenesis
Narrow chest, Wide anterior fontanel, Short ribs, Short stature, Camptodactyly of finger, Short n... ORPHA:2021
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to gluc... ORPHA:276575
Carpenter Syndrome 1
Aplasia/Hypoplasia of the middle phalanges of the toes, Depressed nasal bridge, Short neck, Ventr... OMIM:201000
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Decreased circulating free T3, Increased circulating ... ORPHA:171706
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal form of the vertebral bodies, Abnormal ... ORPHA:2790
Frontonasal Dysplasia 1
Joint contracture of the hand, Broad nasal tip, Brachydactyly, Bifid nose, Tetralogy of Fallot, C... OMIM:136760
Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia OMIM:607785
Pde4D Haploinsufficiency Syndrome
Broad phalanx, Elevated circulating parathyroid hormone level, Depressed nasal bridge, Cone-shape... ORPHA:439822
Intellectual Developmental Disorder, Autosomal Recessive 66
Gait ataxia, Attention deficit hyperactivity disorder, Shyness, Aggressive behavior OMIM:618221
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Myeloproliferative Disease, Autosomal Recessive
Myeloproliferative disorder OMIM:254700
Chronic Myeloid Leukemia
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... ORPHA:521
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Type II diabetes mellitus, Hepatic steatosis OMIM:615703
Sandestig-Stefanova Syndrome
Convex nasal ridge, Small for gestational age, Retrognathia, Muscular ventricular septal defect, ... OMIM:618804
Multicentric Osteolysis, Nodulosis, And Arthropathy
Bulbous nose, Osteopenia, Delayed eruption of teeth, Thin bony cortex, Thin metacarpal cortices, ... OMIM:259600
Omenn Syndrome
Failure to thrive, Hepatomegaly, Splenomegaly, Hypoplasia of the thymus, Severe B lymphocytopenia... OMIM:603554
Li-Fraumeni Syndrome
Neoplasm of the rectum, Ovarian neoplasm, Stomach cancer, Non-Hodgkin lymphoma, Choroid plexus ca... ORPHA:524
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Microcephaly-Capillary Malformation Syndrome
Short distal phalanx of finger, Failure to thrive, Atrial septal defect, Right ventricular hypert... OMIM:614261
Cohen Syndrome
Macrodontia of permanent maxillary central incisor, Tapered finger, Narrow palm, Single transvers... OMIM:216550
Acromesomelic Dysplasia, Maroteaux Type
Sprengel anomaly, Kyphosis, Beaking of vertebral bodies, Joint stiffness, Scoliosis, Abnormal for... ORPHA:40
Unclassified Myelodysplastic Syndrome
Leukocytosis, Multiple lineage myelodysplasia, Myelodysplasia, Bone marrow hypocellularity, Acute... ORPHA:98827
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Increased serum leptin OMIM:617885
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ... OMIM:612840
Florid Cemento-Osseous Dysplasia
Dental malocclusion, Abnormal number of teeth, Mandibular osteomyelitis, Abnormal cementum morpho... ORPHA:83451
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Myelodysplasia, Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Emphysema, Hereditary Pulmonary
Chronic bronchitis, Emphysema OMIM:130700
Osteolysis Syndrome, Recessive
Osteolytic defects of the proximal phalanges of the hand, Osteolytic defects of the middle phalan... OMIM:259610
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Polycystic ovaries, Insulin-resistant diabetes... ORPHA:90301
Agammaglobulinemia 8B, Autosomal Recessive
Failure to thrive, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acute Lympho... OMIM:619824
Pycnodysostosis
Carious teeth, Rhizomelia, Hypoplasia of the maxilla, Intrauterine growth retardation, Spondyloli... ORPHA:763
Premature Aging Syndrome, Penttinen Type
Lipoatrophy, Osteopenia, Micrognathia, Delayed cranial suture closure, Narrow nose, Delayed erupt... OMIM:601812
Immunodeficiency 36
B-cell lymphoma, Lymphopenia, Enlarged tonsils, Splenomegaly, Short stature, B lymphocytopenia, C... OMIM:616005
Obesity Due To Prohormone Convertase I Deficiency
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Central adrenal insuffic... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Central adrenal insuffic... ORPHA:71526
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Lujan-Fryns Syndrome
Atrial septal defect, Arachnodactyly, Micrognathia, Camptodactyly of finger, Brachydactyly, Scoli... ORPHA:776
Lipodystrophy, Familial Partial, Type 3
Type II diabetes mellitus, Hyperinsulinemia, Polycystic ovaries, Cirrhosis, Maternal diabetes, In... OMIM:604367
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, Hepatic failure OMIM:261650
Parastremmatic Dwarfism
Kyphosis, Severe short stature, Flexion contracture, Short neck, Scoliosis, Genu valgum, Bowing o... OMIM:168400
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Wide anterior fontanel, Bilateral talipes equinovarus, Platyspondyly, Shortening of all metacarpa... OMIM:601356
Osteogenesis Imperfecta, Type Vii
Pectus excavatum, Osteopenia, Decreased calvarial ossification, Micromelia, Rhizomelia, Femoral r... OMIM:610682
20P12.3 Microdeletion Syndrome
Atrial septal defect, Malar flattening, Depressed nasal bridge, Broad hallux phalanx, Broad thumb... ORPHA:261295
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Pancytopenia, Anemia, Thrombocyto... OMIM:159550
Chromosome 16Q22 Deletion Syndrome
Narrow chest, Growth delay, Wide anterior fontanel, Prominent metopic ridge, Short neck, Wormian ... OMIM:614541
N Syndrome
Neoplasm, Leukemia OMIM:310465
Mesomelic Dysplasia, Kantaputra Type
Vertebral segmentation defect, Clinodactyly of the 5th finger, Short stature, Camptodactyly of fi... ORPHA:1836
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Hepatic steatosis, Insulin-resistant diabetes mellitus OMIM:613877
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Diabetic ketoacidosis, Hypoglyc... OMIM:262190
Transient Neonatal Diabetes Mellitus
Hypoinsulinemia, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Maternal diabetes, ... ORPHA:99886
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Myelodysplasia, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Clinodactyly of the 5th finger, Atrial septal defect, Abnormality of the hand, Abnormality of the... ORPHA:521308
Otopalatodigital Syndrome, Type Ii
Pectus excavatum, Radial deviation of the 2nd finger, Femoral bowing, Platyspondyly, Congenital h... OMIM:304120
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Short neck, Scoliosis, Osteoporosis, Wide nose, Joint laxity, Dela... OMIM:616033
Hypothyroidism, Congenital, Nongoitrous, 4
Severe postnatal growth retardation, Wide anterior fontanel OMIM:275100
Spondyloepimetaphyseal Dysplasia, Irapa Type
Coxa vara, Disproportionate short-limb short stature, Limitation of joint mobility, Short metacar... ORPHA:93351
Mody
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Hyperinsulinemic hypogly... ORPHA:552
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia ORPHA:369873
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Maternal diabetes, Hyperglycemia OMIM:610582
Cranial Nerves, Recurrent Paresis Of
Diabetes mellitus OMIM:218200
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Polycystic ovaries, Decreased serum leptin, Insulin-resistant diabetes mellitus, In... ORPHA:79085
Mismatch Repair Cancer Syndrome 2
T-cell acute lymphoblastic leukemias, Colon cancer, Glioblastoma multiforme OMIM:619096
Wt Limb-Blood Syndrome
Hypoplastic anemia, Thrombocytopenia, Leukemia, Pancytopenia OMIM:194350
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Maxillonasal Dysplasia
Short distal phalanx of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, Depressed... ORPHA:1248
Acquired Partial Lipodystrophy
Insulin resistance, Hepatic steatosis ORPHA:79087
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2
Cirrhosis, Aplastic anemia, Myeloid leukemia, Pancytopenia, Bone marrow hypocellularity, Leukemia OMIM:614743
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Diabetes mellitus, Insulin resistance, Hepatic st... OMIM:612526
Axial Spondylometaphyseal Dysplasia
Mild postnatal growth retardation, Osteopenia, Platyspondyly, Upper limb undergrowth, Disproporti... ORPHA:168549
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count,... ORPHA:3226
Fanconi Anemia, Complementation Group D1
T-cell acute lymphoblastic leukemias, Failure to thrive, Short stature, Bone marrow hypocellulari... OMIM:605724
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Distal ulnar epiphyseal stippl... OMIM:609616
Phosphoserine Phosphatase Deficiency
Postnatal growth retardation, Intrauterine growth retardation OMIM:614023
Intellectual Developmental Disorder With Autism And Speech Delay
Motor stereotypy, Impaired social interactions, Inability to walk OMIM:606053
Aggressive Systemic Mastocytosis
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Anemia, Hepatosplenomegaly, Thrombocyto... ORPHA:98850
Aarskog-Scott Syndrome
Testicular atrophy, Short neck, Single transverse palmar crease, Short nose, Hypoplasia of the ma... OMIM:305400
Gillessen-Kaesbach-Nishimura Syndrome
Wide anterior fontanel, Ulnar deviation of the hand, Convex nasal ridge, Congenital diaphragmatic... OMIM:263210
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Metaphyseal dysplasia, Convex nasal ridge, Flared metaphysis, Platyspondyly, Short middle phalanx... OMIM:156510
Spondylometaphyseal Dysplasia, A4 Type
Coxa vara, Severe short stature, Platyspondyly, Micromelia, Short palm, Flared, irregular rib end... ORPHA:168555
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... ORPHA:79644
17Q21.31 Microduplication Syndrome
Failure to thrive, Clinodactyly of the 5th finger, Malar flattening, Micrognathia, Short nose, Sa... ORPHA:217340
Systemic Mastocytosis With Associated Hematologic Neoplasm
Multiple myeloma, Hepatomegaly, Neutrophilia, Weight loss, Lymphadenopathy, Abnormal mast cell mo... ORPHA:98849
Hepatic Adenomas, Familial
Maturity-onset diabetes of the young, Polycystic ovaries, Hepatocellular adenoma OMIM:142330
Kniest-Like Dysplasia, Lethal
Narrow chest, Metaphyseal irregularity, Wide anterior fontanel, Hypoplastic vertebral bodies, Tal... OMIM:245190
Heart Defects-Limb Shortening Syndrome
Narrow chest, Kyphosis, Abnormal form of the vertebral bodies, Mesomelic/rhizomelic limb shorteni... ORPHA:1354
Catel-Manzke Syndrome
Joint stiffness, Failure to thrive, Clinodactyly of the 5th finger, Atrial septal defect, Malar f... ORPHA:1388
Craniofacial-Deafness-Hand Syndrome
Aplasia/Hypoplasia involving the nose, Depressed nasal ridge, Depressed nasal bridge, Camptodacty... ORPHA:1529
Larsen-Like Syndrome
Kyphoscoliosis, Clinodactyly of the 5th finger, Joint dislocation, Wide anterior fontanel, Talipe... OMIM:608545
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Short stature, Hemivertebrae, Spina bifida occulta, Ab... OMIM:613686
Chromosome 3Q29 Deletion Syndrome
Motor stereotypy, Pectus excavatum, Hyperactivity, Clinodactyly of the 5th finger, Short philtrum... OMIM:609425
Aarskog-Scott Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Inguinal hernia, Cognitive impairment, Abnorma... ORPHA:915
Stickler Syndrome Type 1
Osteoarthritis, Platyspondyly, Abnormality of vertebral epiphysis morphology, Mitral valve prolap... ORPHA:90653
Pseudoachondroplasia
Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... ORPHA:750
Multicentric Carpotarsal Osteolysis Syndrome
Ulnar deviation of the hand, Inability to walk, Congenital diaphragmatic hernia, Metatarsal osteo... OMIM:166300
Mandibuloacral Dysplasia
Hyperinsulinemia, Acroosteolysis of distal phalanges (feet), Increased circulating free fatty aci... ORPHA:2457
Lowry-Maclean Syndrome
Widely patent coronal suture, Intrauterine growth retardation, Convex nasal ridge, Congenital dia... ORPHA:2409
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Wide anterior fontanel, Decreased body weight, Atrial septal defec... OMIM:614886
Autosomal Dominant Severe Congenital Neutropenia
Lymphopenia, Hemangioma, Eosinophilia, Monocytosis, Aplastic anemia, Myelodysplasia, Neutropenia,... ORPHA:486
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Lung adenocarcinoma, Choriocarcinoma, Breast carcinoma, Prostate cancer... OMIM:151623
Acrodysostosis
Depressed nasal ridge, Hypoplasia of the radius, Depressed nasal bridge, Cone-shaped epiphysis, M... ORPHA:950
Cutis Laxa, Autosomal Recessive, Type Iia
Failure to thrive, Wide anterior fontanel, Malar flattening, Inguinal hernia, Congenital hip disl... OMIM:219200
Spondylocostal Dysostosis 1, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Kyphoscoliosis, Back pain, Severe short stature, Short... OMIM:277300
Primary Erythromelalgia
Leukemia ORPHA:90026
Thanatophoric Dysplasia Type 1
Narrow chest, Kyphosis, Wide anterior fontanel, Joint stiffness, Short femur, Femoral bowing, Hyp... ORPHA:1860
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Irregular vertebral endplates, Dislocated radial head, Metaphyseal irregularity, Knee dislocation... OMIM:618395
Spondylocostal Dysostosis 5
Butterfly vertebrae, Severe short stature, Hemivertebrae, Short neck, Posterior rib fusion, Scoli... OMIM:122600
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
2-3 toe syndactyly, Flexion contracture, Scoliosis, Tapered finger, Long fingers, Short nose, Hyp... OMIM:218000
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal irregularity, Metaphyseal cupping of ... ORPHA:174
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperinsulinemia, Acroosteolysis of distal phalanges (feet), Short nose, Hypoplasia of teeth, Los... OMIM:608612
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia OMIM:616941
Progressive Pseudorheumatoid Arthropathy Of Childhood
Platyspondyly, Irregular acetabular roof, Genu valgum, Polyarticular arthropathy, Generalized ost... ORPHA:1159
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Acetabular spurs, Short ribs, Trident acetabulum, Short stature, Brachydactyly, Pos... OMIM:617405
Eng-Strom Syndrome
Pectus excavatum, Short stature, Camptodactyly of finger, Brachydactyly, Scoliosis, Arthritis, In... ORPHA:1937
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Maturity-onset diabetes of the young, Abnormality of exocrine pancreas physiology OMIM:609812
Atelosteogenesis, Type Iii
Tibial bowing, Radial bowing, Talipes equinovarus, Malar flattening, Horizontal sacrum, Micrognat... OMIM:108721
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Failure to thrive, Lymphopenia, Absence of lymph node germinal center, B lymphocytopenia, T lymph... ORPHA:277
Grant Syndrome
Sprengel anomaly, Narrow chest, Joint dislocation, Short stature, Abnormality of the glenoid foss... ORPHA:2097
Brachytelephalangic Chondrodysplasia Punctata
Depressed nasal ridge, Broad nasal tip, C1-C2 subluxation, Ventricular septal defect, Short nose,... ORPHA:79345
Mantle Cell Lymphoma
B-cell lymphoma, Weight loss, Lymphadenopathy, Splenomegaly ORPHA:52416
Perlman Syndrome
Status epilepticus, Hyperinsulinemia, Inguinal hernia, Retrognathia, Micrognathia, Bilateral sing... ORPHA:2849
Metaphyseal Chondrodysplasia, Spahr Type
Metaphyseal dysplasia, Reduced bone mineral density, Scoliosis, Genu varum, Short lower limbs, Hy... ORPHA:2501
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Hyperinsulinism Due To Ucp2 Deficiency
Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to glucagon test, Hypoket... ORPHA:276556
Acrodysostosis 1 With Or Without Hormone Resistance
Cone-shaped epiphyses of the phalanges of the hand, Calvarial hyperostosis, Elevated circulating ... OMIM:101800
Shashi-Pena Syndrome
Kyphosis, Atrial septal defect, Retrognathia, Broad nasal tip, Deep palmar crease, Scoliosis, Ost... OMIM:617190
Smith-Magenis syndrome
Brachydactyly, Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Chromosome 9P Deletion Syndrome
Clinodactyly of the 4th toe, Depressed nasal bridge, Short neck, Tapered finger, Ventricular sept... OMIM:158170
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Asperger Syndrome, X-Linked, Susceptibility To, 2
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:608631
Smith-Kingsmore Syndrome
Short distal phalanx of finger, Decreased circulating IgA level, Wide anterior fontanel, Depresse... OMIM:616638
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Motor stereotypy, Self-injurious behavior, Malar flattening, Retrognathia, Anxiety, Short nose, S... OMIM:613670
Nut Midline Carcinoma
Ewing sarcoma, Neoplasm, Neuroblastoma, Oropharyngeal squamous cell carcinoma, Pancreatic squamou... ORPHA:443167
Kagami-Ogata Syndrome
Kyphoscoliosis, Atrial septal defect, Flexion contracture, Inguinal hernia, Retrognathia, Pulmoni... OMIM:608149
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia OMIM:618858
Intellectual Developmental Disorder, Autosomal Recessive 68
Seizure, Hypoplasia of the maxilla, Wide nasal bridge, Small for gestational age OMIM:618302
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Talipes equinovarus, Camptodactyly of finger, Tapered finger, Hypoplasia of the maxilla, Clinodac... ORPHA:85279
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Adenomatous colonic polyposis, Colon cancer, Acute myeloid leukemia OMIM:246470
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Verrucae, Lymphopenia, Neutropenia OMIM:614868
Pseudoachondroplasia
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... OMIM:177170
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Kyphosis, Coxa vara, Abnormal bone ossification... ORPHA:2114
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Pectus excavatum, Femoral bowing, Platyspondyly, Micromelia, Ovoid vertebral bodies, Small epiphy... OMIM:608728
Dohle Bodies And Leukemia
Leukocyte inclusion bodies, Anemia, Acute myeloid leukemia OMIM:223350
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Narrow chest, Metaphyseal cupping, Severe limb shortening, Neonatal short-limb short stature, Thi... OMIM:151210
Spondyloepimetaphyseal Dysplasia, Irapa Type
Coxa vara, Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplastic sacrum, Osteoarthritis, Platy... OMIM:271650
Marden-Walker Syndrome
Kyphosis, Wide anterior fontanel, Talipes equinovarus, Joint contracture of the hand, Inguinal he... OMIM:248700
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Bicuspid aortic valve, Wide anterior fontanel, Atrial septal defect, Ataxia, Contracture of the p... ORPHA:457279
Bangstad Syndrome
Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp... ORPHA:1227
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:66628
Cenani-Lenz Syndrome
Hypoplasia of the radius, Micromelia, Radioulnar synostosis, Hypoplasia of the ulna, Short nose, ... ORPHA:3258
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive, Failure to thrive secondary to recurrent infections, B lymphocytopenia, T lymp... OMIM:601457
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Acrocapitofemoral Dysplasia
Narrow chest, Cone-shaped metacarpal epiphyses, Coxa vara, Pectus excavatum, Abnormal femoral nec... ORPHA:63446
Frank-Ter Haar Syndrome
Osteopenia, Broad nasal tip, Depressed nasal bridge, Ventricular septal defect, Bowing of the lon... OMIM:249420
Epiphyseal Dysplasia, Multiple, 4
Epiphyseal dysplasia, Flat capital femoral epiphysis, Talipes equinovarus, Short stature, Hip dys... OMIM:226900
Autosomal Dominant Spondylocostal Dysostosis
Vertebral segmentation defect, Severe short stature, Short neck, Posterior rib fusion, Scoliosis,... ORPHA:1797
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Motor stereotypy, Inability to walk, Self-injurious behavior, Poor eye contact, Involuntary movem... OMIM:617820
Autism, Susceptibility To, X-Linked 3
Lack of peer relationships, Motor stereotypy, Abnormal nonverbal communicative behavior OMIM:300496
Autism, Susceptibility To, X-Linked 1
Lack of peer relationships, Motor stereotypy, Abnormal nonverbal communicative behavior OMIM:300425
Autism, Susceptibility To, 8
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:607373
Chromosome 15Q11-Q13 Duplication Syndrome
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:608636
Autism
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... OMIM:209850
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology, Short stature ORPHA:2435
Autism Spectrum Disorder Due To Auts2 Deficiency
Kyphosis, Prominent nasal tip, Atrial septal defect, Joint contracture of the hand, Inguinal hern... ORPHA:352490
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Cirrhosis, Aplastic anemia, Myeloid leukemia, Mediastinal lymphadenopathy, Myelodysplasia, Pancyt... OMIM:614742
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Hypoplasia of the radius, C... OMIM:607778
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Cohen Syndrome
Tapered finger, Narrow palm, Ventricular septal defect, Genu valgum, Hypoplasia of the maxilla, S... ORPHA:193
Behavioral Variant Of Frontotemporal Dementia
Motor stereotypy, Apathy, Upper motor neuron dysfunction, Mental deterioration, Abnormality of ex... ORPHA:275864
Acute Monoblastic/Monocytic Leukemia
Lymphocytosis, Leukocytosis, Hypochromic anemia, Acute monocytic leukemia, Anemia, Cervical lymph... ORPHA:514
Osteoarthritis With Mild Chondrodysplasia
Irregular vertebral endplates, Beaking of vertebral bodies, Joint stiffness, Short stature, Platy... OMIM:604864
Multiple Endocrine Neoplasia Type 4
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, A... ORPHA:276152
Acrofacial Dysostosis Syndrome Of Rodriguez
Overlapping toe, Wide anterior fontanel, Short stature, Short tibia, 11 pairs of ribs, Triphalang... OMIM:201170
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Short toe, Clinodactyly of the 5th finger, Spondylolisthesis, Pulmonic stenosis, Anterior open-bi... OMIM:617877
Diastrophic Dysplasia
Abnormal clavicle morphology, Micromelia, Symphalangism affecting the phalanges of the hand, Ulna... ORPHA:628
Dysostosis, Stanescu Type
Kyphosis, Convex nasal ridge, Increased bone mineral density, Massively thickened long bone corti... ORPHA:1798
Tetrasomy 5P
Failure to thrive, Wide anterior fontanel, Clinodactyly of the 5th finger, Talipes equinovarus, O... ORPHA:3309
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Metaphyseal irregularity, Coxa vara, Severe short stature, Narrow greater sciatic notch, Club-sha... OMIM:184250
Immunodeficiency 102
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Increased proportion of CD8-p... OMIM:301082
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:619326
Autosomal Dominant Brachyolmia
Increased vertebral height, Kyphoscoliosis, Short stature, Platyspondyly, Short thorax, Abnormal ... ORPHA:93304
Intellectual Developmental Disorder, X-Linked 104
High palate, Ataxia, Poor eye contact, Hyperactivity, Retrognathia, Tremor, Aggressive behavior, ... OMIM:300983
Keipert Syndrome
Short distal phalanx of finger, Clinodactyly of the 5th finger, Cognitive impairment, Depressed n... ORPHA:2662
Chondrodysplasia Punctata, Autosomal Dominant
Hip contracture, Talipes equinovarus, Scoliosis, Hypoplasia of the nasal bone, Knee flexion contr... OMIM:118650
Gomez-Lopez-Hernandez Syndrome
Wide anterior fontanel, Ataxia, Decreased response to growth hormone stimulation test, Malar flat... OMIM:601853
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... ORPHA:179494
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Prominent nasal bridge, Hypoplasia of the maxilla, Craniosynostosis OMIM:608432
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Cognitive impairment, Depression, Myoclonus, Anxiety, Parkinsonism, Rigidity, Memory impa... ORPHA:401901
Craniofacial-Deafness-Hand Syndrome
Ulnar deviation of the hand, Malar flattening, Ulnar deviation of the hand or of fingers of the h... OMIM:122880
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Vertebral clefting, Hemivertebrae, Short neck, Disprop... OMIM:608681
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Slender build, Kyphosis, Scoliosis, Long palm, Hypoplasia of the maxilla, Mandibular prognathia, ... OMIM:300676
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Irregular vertebral endplates, Hip contracture, Kyphoscoliosis, Advanced ossification of carpal b... OMIM:618363
Monosomy 5P
Recurrent fractures, Microretrognathia, Finger syndactyly, Inguinal hernia, Small hand, Short nec... ORPHA:281
Fraxe Intellectual Disability
Clinodactyly of the 5th finger, Hyperactivity, Recurrent hand flapping, Stereotypical body rockin... ORPHA:100973
Spondylometaphyseal Dysplasia, Kozlowski Type
Enlarged joints, Cone-shaped epiphyses of the phalanges of the hand, Halberd-shaped pelvis, Short... OMIM:184252
Donnai-Barrow Syndrome
Wide anterior fontanel, Congenital diaphragmatic hernia, Depressed nasal bridge, Ventricular sept... ORPHA:2143
Thymic Aplasia With Fetal Death
Stillbirth, Pulmonary hypoplasia OMIM:274210
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Joint stiffness, Narrow ... OMIM:608940
Congenital Generalized Lipodystrophy
Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Bone cyst, Increased C-peptid... ORPHA:528
Cutaneous Neuroendocrine Carcinoma
Multiple myeloma, Carcinoid tumor, Chronic noninfectious lymphadenopathy, Lymphoid leukemia, Basa... ORPHA:79140
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... ORPHA:444463
Immunodeficiency 52
Failure to thrive, Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemo... OMIM:617514
Bone Marrow Failure And Diabetes Mellitus Syndrome
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia OMIM:620044
Insulinoma
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... ORPHA:97279
Dental Anomalies And Short Stature
Narrow vertebral interpedicular distance, Platyspondyly, Herniation of intervertebral nuclei, Mit... OMIM:601216
Epiphyseal Dysplasia, Multiple, 6
Irregular vertebral endplates, Intervertebral disk calcification, Flat capital femoral epiphysis,... OMIM:614135
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Failure to thrive, Ataxia, Inability to walk, Bulbous nose, Flexion contracture, Arachnodactyly, ... ORPHA:481152
Cleidocranial Dysplasia
Cleft palate, Abnormality of the dentition, Down-sloping shoulders, Delayed eruption of teeth, Ta... ORPHA:1452
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus OMIM:606176
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Long upper lip, Stereotypical body rocking, Poor coordination, Recurrent hand flap... OMIM:309548
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Status epilepticus, Ataxia, Hyperinsulinemia, Reduced intraa... ORPHA:363400
Bruck Syndrome 1
Kyphosis, Coxa vara, Hip contracture, Talipes equinovarus, Short stature, Platyspondyly, Scoliosi... OMIM:259450
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Abnormal cardiac septum morphology, Wide anterior fontanel, Tracheomalacia, Micrognathia, Depress... OMIM:217980
Progeroid Syndrome, Petty Type
Reduced subcutaneous adipose tissue, Failure to thrive, Wide anterior fontanel, Short distal phal... ORPHA:2963
Mandibuloacral Dysplasia With Type A Lipodystrophy
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Osteopenia, Down-sloping shoulders, Acroos... OMIM:248370
Coffin-Lowry Syndrome
Abnormal mitral valve morphology, Depressed nasal bridge, Broad finger, Delayed eruption of teeth... ORPHA:192
Ritscher-Schinzel Syndrome 3
Wide anterior fontanel, Focal impaired awareness seizure, Shortening of all distal phalanges of t... OMIM:619135
Autosomal Recessive Cutis Laxa Type 2A
Wide anterior fontanel, Inability to walk, Ataxia, Focal impaired awareness seizure, Inguinal her... ORPHA:357058
Congenital Disorder Of Glycosylation, Type Ih
Failure to thrive, Talipes equinovarus, Short neck, Neonatal death, Camptodactyly, Hypothyroidism... OMIM:608104
Hypertriglyceridemia 1
Glucose intolerance, Hypopituitarism OMIM:145750
Hyperlipoproteinemia, Type Iv
Glucose intolerance, Hypopituitarism OMIM:144600
Essential Thrombocythemia
Myelodysplasia, Acute leukemia, Abnormal platelet morphology, Splenomegaly ORPHA:3318
Spondylometaphyseal Dysplasia, Axial
Narrow chest, Coxa vara, Narrow greater sciatic notch, Short stature, Platyspondyly, Anterior rib... OMIM:602271
Cleft Velum
Aspiration pneumonia, Velopharyngeal insufficiency, Cleft soft palate ORPHA:99772
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal cardiac septum morphology, Clinodactyly of the 5th finger, Reduced bone mineral density,... ORPHA:2370
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD... OMIM:150550
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Enlarged joints, Delayed epiphyseal ossification, Pectus excavatum, Spindle-shaped finger, Short ... ORPHA:166024
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
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Zellweger Syndrome
Failure to thrive, Wide anterior fontanel, Cognitive impairment, Micrognathia, Depressed nasal br... ORPHA:912
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Leukemia, Meningioma, Nephroblastoma OMIM:602501
Dyggve-Melchior-Clausen Disease
Broad carpal bones, Short neck, Platyspondyly, Hypoplasia of the capital femoral epiphysis, Pectu... ORPHA:239
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Self-injurious behavior, Inappropriate crying, Micrognathia, Hyperkinetic movements, Stereotypica... ORPHA:397933
Shprintzen-Goldberg Craniosynostosis Syndrome
Craniosynostosis, Osteopenia, Genu valgum, Hypoplasia of the maxilla, Umbilical hernia, Talipes e... OMIM:182212
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Pallor, Splenomegaly ORPHA:46532
Immunodeficiency 69
Failure to thrive, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, ... OMIM:618963
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Splenomegaly, Acute myelomonocytic leukemia, Pancytopenia, Bone marrow hypocellula... ORPHA:86843
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Narrow chest, Abnormal clavicle morphology, Platyspondyly, Short neck, Abnormal rib morphology, R... ORPHA:93267
Osteogenesis Imperfecta, Type Ii
Recurrent fractures, Tibial bowing, Disproportionate short-limb short stature, Thin ribs, Platysp... OMIM:166210
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Atrial septal defect, Flexion contracture, Hyperextensibility of the finger joints, Micrognathia,... OMIM:309520
Fibular Hemimelia
Craniosynostosis, Arthralgia of the hip, Abnormality of fibula morphology, Difficulty walking, Ge... ORPHA:93323
Temtamy Preaxial Brachydactyly Syndrome
Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Short nose, Hypoplasia of the m... ORPHA:363417
Hypochondroplasia
Spinal canal stenosis, Abnormality of femur morphology, Short toe, Childhood onset short-limb sho... ORPHA:429
Dysspondyloenchondromatosis
Vertebral segmentation defect, Enlarged joints, Kyphoscoliosis, Joint dislocation, Generalized jo... ORPHA:85198
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Depressed nasal bridge, Short 1st metacarpal, Monkey wrench f... OMIM:251450
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal humeral metaphysis morphology, Platyspondyly, Pectus carinatum, Disproportionate short-t... ORPHA:93314
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Bulbous nose, Decreased circulating androgen concentration, Elbow ankylosis, Craniosynostosis, De... ORPHA:95699
Martsolf Syndrome 1
Finger joint hypermobility, Broad nasal tip, Depressed nasal bridge, Broad fingertip, Hypoplasia ... OMIM:212720
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Diabetes mellitus, Impaired glucose tolerance OMIM:610947
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Abnormal dense granule content, Neuroblastoma, Acute monocytic leukemia, Lymphoma, Myelodysplasia... OMIM:601399
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
High palate, Anodontia, Dental malocclusion, Narrow palate, Supernumerary tooth, Pectus excavatum... OMIM:264475
Chromosome 16P13.3 Duplication Syndrome
Bulbous nose, Short toe, Atrial septal defect, Malar flattening, Short phalanx of finger, Tapered... OMIM:613458
Jackson-Weiss Syndrome
2-3 toe syndactyly, Convex nasal ridge, Short metatarsal, Split foot, Broad hallux phalanx, Symph... ORPHA:1540
Intellectual Developmental Disorder With Or Without Peripheral Neuropathy
Retrognathia, Wide nasal bridge, Unsteady gait, Small for gestational age OMIM:619844
Leukodystrophy, Hypomyelinating, 24
Severe short stature, B lymphocytopenia OMIM:619851
Cdkl5-Deficiency Disorder
Poor eye contact, Everted lower lip vermilion, Broad proximal phalanges of the hand, Stereotypica... ORPHA:505652
Cofs Syndrome
Joint stiffness, Micrognathia, Camptodactyly of finger, Abnormal nasal morphology, Prominent meto... ORPHA:1466
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia OMIM:618856
Atypical Rett Syndrome
Inability to walk, Hand apraxia, Tongue thrusting, Tremor, Spasticity, Impaired social interactio... ORPHA:3095
Combined Immunodeficiency Due To Dock8 Deficiency
Anal canal squamous carcinoma, B lymphocytopenia, T lymphocytopenia, Squamous cell carcinoma, Ver... ORPHA:217390
Short Stature, Dauber-Argente Type
Decreased fibular diameter, Reduced bone mineral density, Arachnodactyly, Osteopenia, Delayed eru... OMIM:619489
Beta-Thalassemia Intermedia
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Abnormality o... ORPHA:231222
Trichorhinophalangeal Syndrome, Type Iii
Short metatarsal, Supernumerary tooth, Cone-shaped epiphyses of the middle phalanges of the hand,... OMIM:190351
Feingold Syndrome 2
3-4 toe syndactyly, 2-3 toe syndactyly, Short stature, Short middle phalanx of the 2nd finger, Po... OMIM:614326
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Platyspondyly, Pectus carinatum, Ulnar deviation of finger, Abnormal epiphysis morphology, Abnorm... ORPHA:93359
Immunodeficiency 16
Kaposi's sarcoma, Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Cleft palate, Death in infancy OMIM:258320
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Slender finger, Down-sloping shoulders, Short neck, Short nose, Hypoplasia of teeth, Dorsocervica... ORPHA:391408
Rubinstein-Taybi Syndrome 1
Prominent fingertip pads, Premature thelarche, Ventricular septal defect, Single transverse palma... OMIM:180849
Thoracomelic Dysplasia
Narrow chest, Disproportionate short-limb short stature, Short ribs, Short neck, Hyperlordosis, B... ORPHA:1803
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomegaly, B lymphocytopen... OMIM:607594
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Failure to thrive, Flexion contracture, Prominent fingertip pads, Retrognathia, Broad nasal tip, ... ORPHA:391372
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Hepatic steatosis, Diabetes mellitus OMIM:615980
20P13 Microdeletion Syndrome
Wide anterior fontanel, Decreased body weight, Brachydactyly, Polydactyly, Clinodactyly, Seizure,... ORPHA:313781
Immunodeficiency 104
Hepatomegaly, Splenomegaly, T lymphocytopenia, Failure to thrive secondary to recurrent infection... OMIM:608971
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Coxa vara, Metaphyseal irregularity, Metaphyseal dysplasia, Flexion contracture, Abnormally ossif... OMIM:613330
Teebi Hypertelorism Syndrome 2
Wide anterior fontanel, Clinodactyly of the 5th finger, Broad nasal tip, Depressed nasal bridge, ... OMIM:619736
Intellectual Disability, Wolff Type
Short distal phalanx of finger, Bulbous nose, Clinodactyly of the 5th finger, Microretrognathia, ... ORPHA:3080
8Q22.1 Microdeletion Syndrome
Finger syndactyly, Depressed nasal ridge, Craniosynostosis, Abnormality of the nares, Camptodacty... ORPHA:178303
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Trigonocephaly With Short Stature And Developmental Delay
Clinodactyly of the 5th finger, Convex nasal ridge, Inguinal hernia, Small for gestational age, P... OMIM:314320
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Wide anterior fontanel, Atrial septal defect, Flexion contracture, Malar flattening, Coronal cran... OMIM:207410
Retinitis Pigmentosa
Abnormal testis morphology, Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism ORPHA:791
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Kyphosis, Kyphoscoliosis, Talipes equinovarus, Malar flattening, Depressed nasal bridge, Hemivert... OMIM:301040
Thoracolaryngopelvic Dysplasia
Irregular vertebral endplates, Irregular chondrocostal junctions, Short ribs, Metaphyseal widenin... OMIM:187760
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Decreased testicular... ORPHA:3085
Autosomal Recessive Distal Osteolysis Syndrome
Short distal phalanx of finger, Broad nasal tip, Osteolysis, Hypoplasia of the maxilla ORPHA:2776
Acropectorovertebral Dysplasia
Finger syndactyly, Radial deviation of the 2nd finger, Spina bifida occulta at L5, Spina bifida o... OMIM:102510
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Kyphosis, Wide anterior fontanel, Lumbar hyperlordosis, Severe short stature, Platyspondyly, Meso... OMIM:616482
Spondyloepiphyseal Dysplasia Tarda
Abnormally ossified vertebrae, Barrel-shaped chest, Platyspondyly, Short neck, Biconcave vertebra... ORPHA:93284
Agammaglobulinemia 2, Autosomal Recessive
Absent circulating B cells, Abnormal T cell morphology OMIM:613500
Immunodeficiency 75
Hepatosplenomegaly, Follicular hyperplasia, Lymphoma, Decreased proportion of class-switched memo... OMIM:619126
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Fifth finger distal phalanx clinodactyly, Inguinal hernia, Small for gestational age, Premature p... ORPHA:3369
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Insulin-resistant diabetes mellitus, Primary gonadal insufficiency ORPHA:436182
Skraban-Deardorff Syndrome
Broad-based gait, Micrognathia, Hyperplasia of the maxilla, Depressed nasal bridge, Seizure, Ante... OMIM:617616
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Cone-shaped epiphyses of the toes, Cone-shaped epiphyses of the 4th toe, Cone-shaped epiphyses of... ORPHA:397973
Hereditary Spherocytosis
Cholelithiasis, Hepatomegaly, Spherocytosis, Splenomegaly, Extramedullary hematopoiesis, Anemia, ... ORPHA:822
Cerebrofacioarticular Syndrome
Ataxia, Talipes equinovarus, Tracheomalacia, Pulmonic stenosis, Micrognathia, Absence of pubertal... ORPHA:314679
Acrocallosal Syndrome
Postaxial hand polydactyly, Wide anterior fontanel, Abnormal clavicle morphology, Triphalangeal t... ORPHA:36
Sprengel Deformity
Sprengel anomaly, Hemivertebrae, Scoliosis, Spina bifida occulta, Cervical segmentation defect, R... OMIM:184400
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Weight loss, Lymphadenopat... ORPHA:66661
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Short distal phalanx of finger, Failure to thrive, Decreased body weight, Talipes equinovarus, Fl... OMIM:300534
Mu-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Abnormal B cell count, Weight loss, Anemia, Lymphadenopathy ORPHA:100024
Immunodeficiency 13
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Failure to thrive, Overlapping toe, Inability to walk, Atrial septal defect, Decreased body weigh... OMIM:617452
Robinow Syndrome, Autosomal Recessive 1
Hypoplastic sacrum, Hypoplasia of the radius, Depressed nasal bridge, Hemivertebrae, Duplication ... OMIM:268310
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Asymmetry of the thorax, Thin ribs, Epiphyseal streaking, Clinodactyly of the 4th toe, Short stat... OMIM:604922
Van Maldergem Syndrome 2
Dental malocclusion, Wide anterior fontanel, Short clavicles, Talipes equinovarus, Malar flatteni... OMIM:615546
Juberg-Hayward Syndrome
Abnormality of finger, Severe short stature, Hypoplasia of the radius, Scoliosis, Radioulnar syno... ORPHA:2319
Osteogenesis Imperfecta, Type Xix
Recurrent fractures, Pectus excavatum, Severe short stature, Osteopenia, Scoliosis, Biconcave ver... OMIM:301014
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Dental malocclusion, Overlapping toe, Atrial septal defect, Low hanging columella, Muscular ventr... ORPHA:363444
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Pallister-Hall Syndrome
Decreased circulating cortisol level, Depressed nasal bridge, Hemivertebrae, Ventricular septal d... OMIM:146510
Alg9-Cdg
Depressed nasal bridge, Short neck, Ventricular septal defect, Lipodystrophy, Short nose, Rhizome... ORPHA:79328
Congenital Bile Acid Synthesis Defect Type 2
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Postnatal growth retardation, Extramedulla... ORPHA:79303
Acute Peripheral Arterial Occlusion
Supraventricular tachycardia, Stroke, Leukocytosis, Absent ankle pulse, Pallor, Myocardial infarc... ORPHA:90064
Thanatophoric Dysplasia, Type Ii
Narrow chest, Wide-cupped costochondral junctions, Small abnormally formed scapulae, Metaphyseal ... OMIM:187601
Osteopetrosis, Autosomal Recessive 2
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Anemia, Thrombocytopenia OMIM:259710
Van Maldergem Syndrome 1
Dental malocclusion, Wide anterior fontanel, Short clavicles, Talipes equinovarus, Malar flatteni... OMIM:601390
Baker-Gordon Syndrome
Motor stereotypy, Ataxia, Inability to walk, Self-injurious behavior, Hyperkinetic movements, Sho... OMIM:618218
Aneurysm, Intracranial Berry, 12
Cerebral berry aneurysm, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Internal carotid ar... OMIM:618734
Opitz-Kaveggia Syndrome
Multiple joint contractures, Prominent fingertip pads, Short neck, Single transverse palmar creas... OMIM:305450
Hereditary Geniospasm
Abnormality of lower lip, Chin myoclonus, Abnormal social behavior ORPHA:53372
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Abnormal hip bone morphology, Short stature, Short neck, Abnormal form of th... ORPHA:1486
Oculodentodigital Dysplasia, Autosomal Recessive
Dental malocclusion, Failure to thrive, Broad long bones, Macrodontia of permanent maxillary cent... OMIM:257850
Heart And Brain Malformation Syndrome
Wide anterior fontanel, Depressed nasal bridge, Camptodactyly of finger, Prominent metopic ridge,... OMIM:616920
Orofaciodigital Syndrome Iii
Pectus excavatum, Supernumerary tooth, Short sternum, Myoclonus, Bifid tongue, Bifid uvula, Micro... OMIM:258850
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies
Broad nasal tip, Tapered finger, Thick nasal alae, Narrow jaw, Wide nasal bridge OMIM:618147
Mental Retardation, X-Linked 91
Small hand, Short 5th finger, Short nose, Cubitus valgus, Short foot, Clinodactyly, Seizure, Obesity OMIM:300577
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... ORPHA:231226
Trichorhinophalangeal Syndrome Type 2
Cone-shaped epiphyses of the phalanges of the hand, Supernumerary tooth, Abnormality of the denti... ORPHA:502
Combined Oxidative Phosphorylation Deficiency 8
Pulmonary hypoplasia, Death in infancy OMIM:614096
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Inguinal hernia, Craniosynostosis, Camptodactyly of toe, Delayed c... OMIM:175700
Lipodystrophy, Familial Partial, Type 1
Acute pancreatitis, Hepatomegaly, Insulin-resistant diabetes mellitus, Hyperglycemia OMIM:608600
Refractory Anemia With Excess Blasts
Anemia of inadequate production, Single lineage myelodysplasia, Leukocytosis, Abnormal mean corpu... ORPHA:86839
Dyggve-Melchior-Clausen Disease
Cone-shaped epiphyses of the phalanges of the hand, Prominent sternum, Femoral bowing, Barrel-sha... OMIM:223800
Peroxisome Biogenesis Disorder 11A (Zellweger)
Failure to thrive, Wide anterior fontanel, Depressed nasal bridge, Large fontanelles, Anteverted ... OMIM:614883
Agammaglobulinemia 10, Autosomal Dominant
Absent circulating B cells, Transient neutropenia OMIM:619707
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Motor stereotypy, Ataxia, Poor coordination, Falls, Chorea, Aggressive behavior, Paroxysmal dyski... OMIM:619150
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Wide anterior fontanel, Small for gestational age, Depressed nasal bridge, Hypoplasia of the thym... OMIM:617241
Thymoma
Neoplasm, Neoplasm of the lung, Non-Hodgkin lymphoma, Neoplasm of the gastrointestinal tract, Pro... ORPHA:99867
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Decreased serum testosterone concentration, Eunuchoid habitus, Elevated circulating luteinizing h... ORPHA:3044
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Ataxia, Narrow mouth, Dysmetria, Abnormal social behavior, Intention tremor, Nonprogressive cereb... ORPHA:314647
Acrootoocular Syndrome
Anodontia, Dental malocclusion, Pectus excavatum, Supernumerary tooth, High, narrow palate, Short... ORPHA:2980
Craniodiaphyseal Dysplasia
Abnormal rib morphology, Craniofacial hyperostosis, Diaphyseal thickening, Short stature ORPHA:1513
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Ataxia, Inability to walk, Short neck, Tapered finger, Ventricular septal defect, Limb joint cont... ORPHA:505237
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... ORPHA:231154
Marshall-Smith Syndrome
Short sternum, Slender finger, Prominent fingertip pads, Craniosynostosis, Distal widening of met... OMIM:602535
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Peroxisome Biogenesis Disorder 7A (Zellweger)
Wide anterior fontanel, Talipes equinovarus, Epiphyseal stippling, Large posterior fontanelle OMIM:614872
Developmental And Epileptic Encephalopathy 73
Failure to thrive, Inguinal hernia, Flexion contracture, Scoliosis, Narrow nasal bridge, Short no... OMIM:618379
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Motor stereotypy, Attention deficit hyperactivity disorder OMIM:617787
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Diaphyseal sclerosis, Elevated circulating parathyroid hormone level, Depress... OMIM:122860
Shwachman-Diamond Syndrome 1
Failure to thrive, Exocrine pancreatic insufficiency, Neutropenia, Hepatomegaly, Small for gestat... OMIM:260400
Greenberg Dysplasia
Narrow chest, Severe short-limb dwarfism, Abnormal bone ossification, Anterior rib punctate calci... ORPHA:1426
Mandibulofacial Dysostosis-Microcephaly Syndrome
Atrial septal defect, Malar flattening, Micrognathia, Short nose, Hypoplasia of the maxilla, Seiz... ORPHA:79113
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Polycystic ovaries, Decreased serum leptin, Insulin-resistant diabetes mellitus, In... ORPHA:435660
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Andersen Cardiodysrhythmic Periodic Paralysis
Bulbous nose, Small finger, Hypoplasia of the maxilla, Clinodactyly of the 5th finger, Prominent ... OMIM:170390
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Bone marrow hy... OMIM:301078
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
B-cell lymphoma, Hodgkin lymphoma, Splenomegaly, Lymphoproliferative disorder, Autoimmune thrombo... OMIM:300853
Lissencephaly, X-Linked, 2
Wide anterior fontanel, Micrognathia, Seizure, Prominent nasal bridge, Wide nasal bridge OMIM:300215
Insulin-Like Growth Factor I, Resistance To
Reduced subcutaneous adipose tissue, Decreased body weight, Atrial septal defect, Retrognathia, M... OMIM:270450
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Failure to thrive, B-cell lymphoma, Lymphopenia, Hepatomegaly, Splenomegaly, Aplasia of the thymu... OMIM:102700