Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
CREB binding protein
Synonyms:
CBP,  KAT3A

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Diabetes Mellitus, Transient Neonatal, 2
Type II diabetes mellitus, Transient neonatal diabetes mellitus OMIM:610374
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Elevated circulat... OMIM:609968
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus OMIM:600089
Maturity-Onset Diabetes Of The Young, Type 4
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
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia, Nesidioblastosis OMIM:601820
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus OMIM:125852
Type 1 Diabetes Mellitus 20
Type I diabetes mellitus OMIM:612520
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Delayed puberty, Insulin resistance, Decreased serum insulin-like growth factor 1 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, Recurrent hypoglycemia, Insulin resistance, Fasting ... ORPHA:263458
Diabetes Mellitus, Ketosis-Prone
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction OMIM:612227
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Increased glucagon level, Type II diabetes mellitus, Recurrent... OMIM:619290
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:256450
Acid-Labile Subunit Deficiency
Delayed puberty, Insulin insensitivity, Decreased serum insulin-like growth factor 1 OMIM:615961
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,... OMIM:147630
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Maturity-onset diabetes of the young, Hyperglycemia OMIM:613370
Multiple Symmetric Lipomatosis
Insulin resistance, Hepatomegaly ORPHA:2398
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Gcgr-Related Hyperglucagonemia
Glucagonoma, Neoplasm of the pancreas, Abnormal biliary tract morphology, Cholelithiasis, Increas... ORPHA:438274
Congenital Glucokinase-Related Hyperinsulinism
Hypoketotic hypoglycemia, Type II diabetes mellitus, Recurrent hypoglycemia, Hyperinsulinemic hyp... ORPHA:79299
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance,... ORPHA:411593
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Failure to thrive, Thrombocytopenia, Splenomegaly, Leukope... OMIM:615285
Rhizomelic Syndrome
Rhizomelia, Wide anterior fontanel, Short stature, Bifid distal phalanx of the thumb, Complete du... OMIM:268250
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Refractory anemia with ringed sideroblasts, Thrombo... OMIM:133180
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Insulin resistance, Polycystic ovaries, Diabetes me... ORPHA:79084
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Abnormality of the pancreatic islet cells OMIM:606762
Fanconi Anemia, Complementation Group G
Anemia, Growth delay, Myelodysplasia, Thrombocytopenia, Leukemia, Neutropenia OMIM:614082
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Increased hepatic glycoge... ORPHA:293964
RCAD (renal cysts and diabetes)
Abnormality of the liver, Diabetes mellitus DECIPHER:47
Ras-Associated Autoimmune Leukoproliferative Disorder
Follicular hyperplasia, Hepatomegaly, Pancytopenia, Lymphocytosis, Lymphoma, Splenomegaly, Hemoly... OMIM:614470
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytohemagglutin... OMIM:153600
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Pectus carinatum, Scoliosis, Abnormal rib morp... ORPHA:3268
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Rhizomelic Syndrome, Urbach Type
Triphalangeal thumb, Rhizomelia, Abnormal form of the vertebral bodies, Abnormality of the elbow,... ORPHA:3098
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder, Malignant eosinophil proliferation OMIM:131440
Cortisone Reductase Deficiency 2
Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio, Premature pubarche... OMIM:614662
Optic Atrophy--Spastic Paraplegia Syndrome
Abnormal oral glucose tolerance OMIM:311100
Osteogenesis Imperfecta, Type Iii
Neonatal short-limb short stature, Disproportionate short-limb short stature, Slender long bone, ... OMIM:259420
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly OMIM:607685
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Compulsive behaviors, Reduced social reciprocity OMIM:618830
Sponastrime Dysplasia
Kyphoscoliosis, Short long bone, Biconcave vertebral bodies, Aplasia of the nasal bone, Mesomelia... ORPHA:93357
Spondylometaphyseal Dysplasia, Type A4
Narrow greater sciatic notch, Disproportionate short-limb short stature, Pectus carinatum, Osteop... OMIM:609052
Brachydactyly, Type B1
Joint contracture of the hand, Hypoplastic sacrum, Aplasia/Hypoplasia of the distal phalanges of ... OMIM:113000
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Myelodysplasia... ORPHA:231401
Asperger Syndrome, Susceptibility To, 1
Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi... OMIM:608631
Glycogen Storage Disease 0, Liver
Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia OMIM:240600
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Spondylometaphyseal Dysplasia, Corner Fracture Type
Hyperconvex vertebral body endplates, Corner fracture of metaphysis, Pectus carinatum, Scoliosis,... OMIM:184255
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hodgkin lymphoma, Splenomegaly, Reduced natural killer cell count, Neutropenia, T-cell lymphoma, ... ORPHA:158057
Generalized Eruptive Histiocytosis
Hypereosinophilia, Histiocytosis, Leukemia ORPHA:157991
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Refra... ORPHA:75564
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Lymphoma, Bone marrow hypocellularity, Leukopenia, Mon... OMIM:616871
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Truncal ataxia, Inflexible adherence to routines, Unsteady gait, Reduced so... OMIM:608636
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormality of cranial sutures, Abnormal bone ossification, Abnormal femoral neck/head morphology... ORPHA:163649
Immunodeficiency 21
Aplastic anemia, Cervical intraepithelial neoplasia, Anemia, Neutropenia, B lymphocytopenia, Lymp... OMIM:614172
Osteogenesis Imperfecta, Type Viii
Disproportionate short-limb short stature, Femoral bowing, Tibial bowing, Short metacarpal, Kypho... OMIM:610915
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Metatropic Dysplasia
Kyphoscoliosis, Narrow greater sciatic notch, Relatively short spine, Disproportionate short-limb... OMIM:156530
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia ORPHA:35878
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Thrombocytosis, Abnormal neutrop... ORPHA:86841
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 9
Leukopenia, Leukemia OMIM:620400
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Autism, Susceptibility To, 8
Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi... OMIM:607373
Autism
Inflexible adherence to routines, Impaired ability to form peer relationships, Restrictive behavi... OMIM:209850
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Restricted large joint movement, Abnormal vertebral morphology, Abnormal ilium morphology, Bilate... ORPHA:163665
Achondroplasia
Narrow greater sciatic notch, Short long bone, Flat acetabular roof, Kyphosis, Trident hand, Thor... ORPHA:15
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Obesity And Hypopigmentation
Hyperinsulinemia, Hepatic steatosis OMIM:620195
Fibrochondrogenesis 1
Narrow greater sciatic notch, Short ribs, Short long bone, Dumbbell-shaped long bone, Hypoplastic... OMIM:228520
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Kyphomelic Dysplasia
Abnormal metaphysis morphology, Lateral clavicle hook, Narrow chest, Abnormal form of the vertebr... ORPHA:1801
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Osteopenia, Genu valgum, Cubitus valgus, Generalized lipodystrophy, Metaphyseal striations, Conge... OMIM:608154
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Lymphopenia, Decreased proportion of ... OMIM:615897
Spondylocostal Dysostosis 3, Autosomal Recessive
Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,... OMIM:609813
Primary Myelofibrosis
Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Cachexia, Leukocytosis, Port... ORPHA:824
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hyperinsulinemia, Maturity-onset diabetes of the yo... ORPHA:324575
Anauxetic Dysplasia 3
Beaking of vertebral bodies, Hip subluxation, Genu valgum, Narrow chest, Broad middle phalanx of ... OMIM:618853
ERI1-related disease
Dislocated radial head, Oligodactyly, Abnormal heart morphology, Syndactyly, Slender metacarpals,... OMIM:608739
Lymphedema, Primary, With Myelodysplasia
Acute myeloid leukemia, Pancytopenia, Verrucae, Myelodysplasia, Decreased CD4:CD8 ratio, Leukemia OMIM:614038
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Snijders Blok-Campeau Syndrome
Perimembranous ventricular septal defect, Inguinal hernia, Broad-based gait, Infantile spasms, Sc... OMIM:618205
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly, Myelodysplasia OMIM:162830
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Maternal diabetes, Diffuse pancreatic islet hyperplasia,... ORPHA:276580
Metatropic Dysplasia
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal intervertebral disk morp... ORPHA:2635
Intellectual Developmental Disorder, Autosomal Recessive 66
Attention deficit hyperactivity disorder, Gait ataxia, Aggressive behavior, Excessive shyness OMIM:618221
Lymphoblastic Leukemia, Acute, With Lymphomatous Features
T-cell acute lymphoblastic leukemias, Acute lymphoblastic leukemia, Lymphoma OMIM:247640
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Acute myelomonocytic leukemia, Hypopl... ORPHA:2585
Amed Syndrome, Digenic
Anemia, Acute myeloid leukemia, Short stature, Bone marrow hypocellularity, Failure to thrive, Le... OMIM:619151
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Short tubular bones of the hand, Osteopenia, Abnormal diaphysis morphology, Increased bone minera... ORPHA:85184
Osteogenesis Imperfecta, Type Ix
Disproportionate short-limb short stature, Pectus carinatum, Scoliosis, Wormian bones, Recurrent ... OMIM:259440
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, ... ORPHA:276608
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormal tricuspid valve morphology, Inguinal hernia, Abnormality of fontanelles, Anteverted nare... ORPHA:2412
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Abnormal circulating hormone concentration, Hepatic fibrosis, Hepatic steatosis... ORPHA:280356
Preaxial Hallucal Polydactyly
Diabetes mellitus OMIM:601759
Carpenter Syndrome 1
Flared iliac wing, Pulmonic stenosis, Duplication of the proximal phalanx of the hallux, Umbilica... OMIM:201000
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Genu valgum, Intervertebral space narrowing, Flat capital femoral epiphysis, Pectus carinatum, Sc... OMIM:609223
Craniometadiaphyseal Dysplasia
Osteopenia, Genu valgum, Cubitus valgus, Flared metaphysis, Wide anterior fontanel, Scoliosis, Sh... OMIM:269300
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Frontonasal Dysplasia 1
Joint contracture of the hand, Radial deviation of finger, Pectoral muscle hypoplasia/aplasia, Fr... OMIM:136760
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Narrow chest, Congenital foot contractures, Scoliosis, Scapular winging, Short stature, Hip contr... OMIM:602484
Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia OMIM:607785
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul... OMIM:620211
Myeloproliferative Disease, Autosomal Recessive
Myeloproliferative disorder OMIM:254700
Myelofibrosis
Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop... OMIM:254450
Pde4D Haploinsufficiency Syndrome
Short metacarpal, Broad metatarsal, Joint hypermobility, Intrauterine growth retardation, Cone-sh... ORPHA:439822
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Narrow chest, Flared metaphysis, Wide anterior fontanel, Mesomelic/r... ORPHA:2347
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Hepatic steatosis, Type II diabetes mellitus OMIM:615703
Li-Fraumeni Syndrome
Rhabdomyosarcoma, Neoplasm of the pancreas, Neoplasm of the larynx, Choriocarcinoma, Hodgkin lymp... ORPHA:524
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Leukocytosis, Bone marrow hypocellularity, Multiple lineage myelodysplasi... ORPHA:98827
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Lujan-Fryns Syndrome
Seizure, Scoliosis, Hypoplasia of the maxilla, Arachnodactyly, Micrognathia, Camptodactyly of fin... ORPHA:776
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Reduced social reciprocity, Motor stereotypy OMIM:606053
Sandestig-Stefanova Syndrome
Rocker bottom foot, Retrognathia, Bilateral single transverse palmar creases, Perimembranous vent... OMIM:618804
Fibrochondrogenesis
Abnormal metaphysis morphology, Abnormal diaphysis morphology, Bell-shaped thorax, Narrow chest, ... ORPHA:2021
Immunodeficiency, Common Variable, 13
B lymphocytopenia, Acute lymphoblastic leukemia, Pancytopenia OMIM:616873
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Hepatomegaly, Diffuse pancreatic islet hyperplasia, Hypo... ORPHA:276575
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Endosteal Hyperostosis, Worth Type
Diaphyseal undertubulation, Clavicular sclerosis, Sclerotic vertebral body, Abnormal cortical bon... ORPHA:2790
Pycnodysostosis
Spondylolysis, Spondylolisthesis, Hypoplastic iliac wing, Hyperlordosis, Kyphosis, Persistent ope... ORPHA:763
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Myelodysplasia, Neutropenia OMIM:610738
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Generalized non-motor (absence) seizure, Delayed thelarche, Wide nose, Joint hyp... OMIM:616033
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Decreased serum leptin, Decreased adiponectin level, Insulin resistance, Polycystic... ORPHA:79085
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies
Clinodactyly of the 5th finger, Delayed early-childhood social milestone development, Recurrent h... OMIM:618147
Acromesomelic Dysplasia, Maroteaux Type
Beaking of vertebral bodies, Disproportionate short stature, Abnormal form of the vertebral bodie... ORPHA:40
Multicentric Osteolysis, Nodulosis, And Arthropathy
Kyphoscoliosis, Ankylosis of feet small joints, Thin metacarpal cortices, Wrist flexion contractu... OMIM:259600
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Anemia, Abnormal lymph node morphology, Leukocytosis, Hepatosplenomegaly, Splenomeg... OMIM:612840
Florid Cemento-Osseous Dysplasia
Supernumerary tooth, Atrophy of alveolar ridges, Oral ulcer, Abnormality of primary teeth, Abnorm... ORPHA:83451
Aarskog-Scott Syndrome
Delayed puberty, Radial deviation of finger, Elevated circulating luteinizing hormone level, Synd... OMIM:305400
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia, Myelodysplasia OMIM:252270
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Growth delay, Splenomegaly, Lymphopenia, B... OMIM:619164
Maxillonasal Dysplasia
Abnormal nostril morphology, Short nose, Patchy distortion of vertebrae, Mandibular prognathia, S... ORPHA:1248
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Hyperinsulinemia, Maternal diabetes, Hyperglycemia, Type II diabetes mellitus, Insulin... OMIM:604367
17Q21.31 Microduplication Syndrome
Delayed puberty, Short nose, Clinodactyly of the 5th finger, Sandal gap, Anteverted nares, Failur... ORPHA:217340
Brachyolmia Type 1, Hobaek Type
Squared-off platyspondyly, Lumbar hypolordosis, Short iliac bones, Sclerotic foci of metaphyses o... OMIM:271530
Mody
Neonatal hypoglycemia, Hepatocellular adenoma, Hypoinsulinemia, Pancreatic hypoplasia, Abnormal c... ORPHA:552
Ataxia-Pancytopenia Syndrome
Anemia, Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Hypoplastic anemia, Neutro... OMIM:159550
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... ORPHA:71526
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Postnatal growth retardation, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Scoliosis... OMIM:618728
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Insulin resistanc... ORPHA:90301
Saul-Wilson Syndrome
Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, Short metacarpal, Pectus ex... OMIM:618150
N Syndrome
Leukemia, Neoplasm OMIM:310465
Body Mass Index Quantitative Trait Locus 19
Increased serum leptin, Insulin resistance, Hyperinsulinemia OMIM:617885
Fanconi Anemia, Complementation Group T
Anemia, Acute myeloid leukemia, Pancytopenia, Short stature, Bone marrow hypocellularity, Thrombo... OMIM:616435
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... ORPHA:171706
Chromosome 16Q22 Deletion Syndrome
Postnatal growth retardation, Narrow chest, Wide anterior fontanel, Prominent metopic ridge, Grow... OMIM:614541
Immunodeficiency 84
B-cell lymphoma, B lymphocytopenia, Splenomegaly, Perianal abscess OMIM:619437
Parastremmatic Dwarfism
Genu valgum, Scoliosis, Bowing of the long bones, Kyphosis, Severe short stature, Flexion contrac... OMIM:168400
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Abnormality of the hand, Clinodactyly of the 5th finger, Wide nose, Clinodactyly of the 3rd toe, ... ORPHA:521308
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Wide anterior fontanel, Wormian bones, Bilateral talipes equinovarus, Mesomelia, Limb undergrowth... OMIM:601356
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Glucose intolerance ORPHA:369873
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Pancytopenia, B lymphocytopenia, Increased proportion of effector memory CD8-positive, al... OMIM:619824
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Hepatic steatosis, Hepatic failure, Impaired gluconeogenesis OMIM:261650
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Flared metaphysis, Short middle phalanx of the 5th finger, Multiple small vertebral fractures, Os... OMIM:156510
20P12.3 Microdeletion Syndrome
Seizure, Hypoplasia of the maxilla, Broad thumb, Malar flattening, Broad hallux phalanx, Atrial s... ORPHA:261295
Mismatch Repair Cancer Syndrome 2
T-cell acute lymphoblastic leukemias, Colon cancer, Glioblastoma multiforme OMIM:619096
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr... OMIM:616005
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Fasting hypoglycemia, Precocious puberty, Hyperglycemia, Diabetic ketoacidosis,... OMIM:262190
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2
Aplastic anemia, Cirrhosis, Pancytopenia, Bone marrow hypocellularity, Leukemia, Myeloid leukemia OMIM:614743
Essential Thrombocythemia
Acute leukemia, Leukocytosis, Abnormal platelet morphology, Splenomegaly, Thrombocytosis, Myelody... ORPHA:3318
Fanconi Anemia, Complementation Group D1
Acute myeloid leukemia, Short stature, Bone marrow hypocellularity, Failure to thrive, T-cell acu... OMIM:605724
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormal metaphysis morphology, Abnormal carpal morphology, Genu valgum, Short metatarsal, Dispro... ORPHA:93351
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Hepatic steatosis, Insulin-resistant diabetes mellitus OMIM:613877
Mesomelic Dysplasia, Kantaputra Type
Abnormal fibula morphology, Tarsal synostosis, Clinodactyly of the 5th finger, Cubitus valgus, Du... ORPHA:1836
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hypothyroidism, Hypergl... ORPHA:99886
Cohen Syndrome
Delayed puberty, Childhood-onset truncal obesity, Short metacarpal, Mitral valve prolapse, Joint ... OMIM:216550
Microcephaly-Capillary Malformation Syndrome
Short nose, Wide nose, Small for gestational age, Patent foramen ovale, Seizure, Myoclonus, Infan... OMIM:614261
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Narrow greater sciatic notch, Mesomelic arm shortening, Cone-shaped epiphyses of the phalanges of... OMIM:609616
Aggressive Systemic Mastocytosis
Anemia, Increased proportion of CD25+ mast cells, Lymphadenopathy, Pancytopenia, Leukocytosis, As... ORPHA:98850
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Hepatomegaly, Abnormal neutrophil count, Lymphadenopathy, Myeloproliferative diso... ORPHA:3226
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Breast aplasia, Impai... OMIM:615363
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoinsulinemia, Hypoglycemia, Fasting hypoglycemia OMIM:240900
Acquired Partial Lipodystrophy
Insulin resistance, Hepatic steatosis ORPHA:79087
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Insulin resistance, Diabetes mellitus, Hepatic st... OMIM:612526
Hoxha-Aliu Syndrome
Contracture of the proximal interphalangeal joint of the 4th finger, Absent fifth metatarsal, Sho... OMIM:620662
Axial Spondylometaphyseal Dysplasia
Narrow greater sciatic notch, Hypoplastic iliac wing, Delayed ossification of carpal bones, Short... ORPHA:168549
Acrodysostosis
Abnormal femur morphology, Abnormal form of the vertebral bodies, Short metacarpal, Hypogonadism,... ORPHA:950
Gillessen-Kaesbach-Nishimura Syndrome
Narrow greater sciatic notch, Retrognathia, Congenital diaphragmatic hernia, Wide anterior fontan... OMIM:263210
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Exocrine pancreatic insufficiency, Maturity-onset diabetes of the young, Hyperglycemia OMIM:609812
Heart Defects-Limb Shortening Syndrome
Abnormal metaphysis morphology, Narrow chest, Abnormal form of the vertebral bodies, Mesomelic/rh... ORPHA:1354
Craniofacial-Deafness-Hand Syndrome
Short nose, Aplasia/Hypoplasia involving the nose, Abnormality of the wrist, Depressed nasal ridg... ORPHA:1529
Aarskog-Scott Syndrome
Clinodactyly of the 5th finger, Inguinal hernia, Delayed eruption of teeth, Finger syndactyly, An... ORPHA:915
Cranial Nerves, Recurrent Paresis Of
Diabetes mellitus OMIM:218200
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Acute myeloid leukemia, Hemangioma, Acute lymphoblastic leukemia, Myelodysplasia... ORPHA:486
Cenani-Lenz Syndrome
Abnormal form of the vertebral bodies, Oligodactyly, Hip dislocation, Hypoplasia of the ulna, Hyp... ORPHA:3258
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normochromic anemia, Splenomegaly, Abnormal mast cell morphology, Normocytic anemia, Acute myeloi... ORPHA:98849
Multicentric Carpotarsal Osteolysis Syndrome
Congenital diaphragmatic hernia, Wrist swelling, Metacarpal osteolysis, Osteopenia, Carpal osteol... OMIM:166300
Spondylometaphyseal Dysplasia, A4 Type
Limitation of joint mobility, Micromelia, Coxa vara, Short palm, Flared, irregular rib ends, Seve... ORPHA:168555
Atelosteogenesis, Type Iii
Widened distal phalanges, Tombstone-shaped proximal phalanges, Rhizomelia, Sandal gap, Hitchhiker... OMIM:108721
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal response to glucagon stimul... ORPHA:79644
Osteogenesis Imperfecta, Type Vii
Crumpled long bones, Pectus excavatum, Multiple prenatal fractures, Rhizomelia, Femoral retrovers... OMIM:610682
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Abnormal B cell count OMIM:613495
Dohle Bodies And Leukemia
Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies OMIM:223350
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Large for gestational age, Sacral dimple, Inguinal hernia, Anteverted nares, Wide anterior fontan... OMIM:618272
Mandibuloacral Dysplasia
Hypertriglyceridemia, Lipoatrophy, Reduced intrathoracic adipose tissue, Narrow nose, Hyperinsuli... ORPHA:2457
Li-Fraumeni Syndrome
Acute leukemia, Prostate neoplasm, Neoplasm of the pancreas, Soft tissue sarcoma, Choriocarcinoma... OMIM:151623
Hepatic Adenomas, Familial
Hepatocellular adenoma, Maturity-onset diabetes of the young, Polycystic ovaries OMIM:142330
Premature Aging Syndrome, Penttinen Type
Lipoatrophy, Retrognathia, Tibial bowing, Aplasia of the nasal bone, Flexion contracture of finge... OMIM:601812
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Short nose, Inability to walk, 2-3 toe syndactyly, Seizure, Scoliosis, Hypoplasia of the maxilla,... OMIM:218000
Intellectual Developmental Disorder, Autosomal Recessive 64
Reduced social reciprocity, Aggressive behavior OMIM:618103
Pseudoachondroplasia
Disproportionate short-limb short stature, Abnormal form of the vertebral bodies, Short long bone... ORPHA:750
Larsen-Like Syndrome
Kyphoscoliosis, Clinodactyly of the 5th finger, Joint dislocation, Wide anterior fontanel, Radial... OMIM:608545
Spondylocostal Dysostosis 5
Butterfly vertebrae, Pectus carinatum, Scoliosis, Hemivertebrae, Missing ribs, Supernumerary ribs... OMIM:122600
Bdv Syndrome
Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo... OMIM:619326
Chromosome 3Q29 Deletion Syndrome
Clinodactyly of the 5th finger, Short philtrum, Hyperactivity, Pectus carinatum, Tapered finger, ... OMIM:609425
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Disproportionate short-... ORPHA:174
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... OMIM:619924
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos... ORPHA:846
Brachytelephalangic Chondrodysplasia Punctata
Short distal phalanx of toe, Short distal phalanx of finger, Butterfly vertebrae, Cervical spinal... ORPHA:79345
Acrodysostosis 1 With Or Without Hormone Resistance
Decreased growth hormone responses to growth hormone-releasing hormone challenge, Cone-shaped epi... OMIM:101800
Primary Erythromelalgia
Leukemia ORPHA:90026
Peroxisome Biogenesis Disorder 12A (Zellweger)
Abnormal cortical bone morphology, Delayed closure of the anterior fontanelle, Wide anterior font... OMIM:614886
Mandibuloacral Dysplasia With Type B Lipodystrophy
Narrow nasal ridge, Hyperlipidemia, Hyperinsulinemia, Loss of subcutaneous adipose tissue in limb... OMIM:608612
Lowry-Maclean Syndrome
Congenital diaphragmatic hernia, Retrognathia, Short nose, Atrioventricular canal defect, Osteope... ORPHA:2409
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Carpal bone hypoplasia, Multiple joint dislocation, Joint hypermobility, ... OMIM:618395
Perlman Syndrome
Bilateral single transverse palmar creases, Retrognathia, Short nose, Hyperinsulinemia, Inguinal ... ORPHA:2849
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia OMIM:618858
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Aplastic anemia, Cirrhosis, Anemia, Mediastinal lymphadenopathy, Pancytopenia, Bone marrow hypoce... OMIM:614742
Thanatophoric Dysplasia Type 1
Abnormal metaphysis morphology, Narrow chest, Short greater sciatic notch, Wide anterior fontanel... ORPHA:1860
Grant Syndrome
Large fontanelles, Abnormal cortical bone morphology, Narrow chest, Joint hypermobility, Joint di... ORPHA:2097
Spondylocostal Dysostosis 1, Autosomal Recessive
Kyphoscoliosis, Abnormal odontoid process morphology, Hemivertebrae, Vertebral segmentation defec... OMIM:277300
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Seizure, Tapered finger, Hypoplasia of the maxilla, Short palm, Camptodactyly of finger, Prominen... ORPHA:85279
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Short ribs, Postaxial hand polydactyly, Acetabular spurs, Sh... OMIM:617405
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Acrootoocular Syndrome
Grayish enamel, Supernumerary tooth, High, narrow palate, Short finger, Wide nasal base, Dental m... ORPHA:2980
Eng-Strom Syndrome
Arthritis, Scoliosis, Pectus excavatum, Short stature, Camptodactyly of finger, Brachydactyly, In... ORPHA:1937
Cutis Laxa, Autosomal Recessive, Type Iia
Short nose, Inguinal hernia, Anteverted nares, Seizure, Wide anterior fontanel, Scoliosis, Congen... OMIM:219200
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla, Seizure, Wide nasal bridge, Small for gestational age OMIM:618302
Catel-Manzke Syndrome
Clinodactyly of the 5th finger, Scoliosis, Radial deviation of the 2nd finger, Camptodactyly of f... ORPHA:1388
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Disproportionate short-limb short stature, Pectus carinatum, Triangular shaped distal phalanges o... OMIM:271665
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Motor stereotypy OMIM:617787
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Colon cancer, Acute myeloid leukemia, Adenomatous colonic polyposis OMIM:246470
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... OMIM:616216
Progressive Pseudorheumatoid Arthropathy Of Childhood
Wrist swelling, Hyperlordosis, Generalized osteoporosis, Broad femoral neck, Abnormality of hand ... ORPHA:1159
Autism Spectrum Disorder Due To Auts2 Deficiency
Retrognathia, Inguinal hernia, Joint contracture of the 5th finger, Small for gestational age, An... ORPHA:352490
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Splenomegaly ORPHA:66518
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus OMIM:610582
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Narrow greater sciatic notch, Disproportionate short-limb short stature, Femoral bowing, Short lo... OMIM:608728
Acrofacial Dysostosis Syndrome Of Rodriguez
Fibular hypoplasia, Triphalangeal thumb, Single transverse palmar crease, Wide anterior fontanel,... OMIM:201170
Nut Midline Carcinoma
Pancreatic squamous cell carcinoma, Squamous cell carcinoma, Oropharyngeal squamous cell carcinom... ORPHA:443167
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Postnatal growth retardation, Irregular epiphyses, Barrel-shaped chest, Hip osteoarthritis, Hypop... OMIM:313400
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Retrognathia, Short nose, Compulsive behaviors, Inflexible adherence to routines, Broad nasal tip... OMIM:613670
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Difficulty walking, Focal myoclonic seizure, Inability to walk, Anteverted nares, Seizure, Thorac... ORPHA:481152
Metaphyseal Chondrodysplasia, Spahr Type
Abnormal metaphysis morphology, Disproportionate short stature, Reduced bone mineral density, Sco... ORPHA:2501
Dysostosis, Stanescu Type
Abnormal metaphysis morphology, Narrow nasal bridge, Increased bone mineral density, Abnormal den... ORPHA:1798
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Anemia, Increased mean corpuscular volume, Ascites, Sideroblastic anemia, Thrombocytopenia, Paten... OMIM:617021
Stickler Syndrome Type 1
Short nose, Platyspondyly, Abnormal vertebral epiphysis morphology, Hypoplasia of the maxilla, Os... ORPHA:90653
Mantle Cell Lymphoma
B-cell lymphoma, Weight loss, Splenomegaly, Lymphadenopathy ORPHA:52416
Immunodeficiency 52
Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Failure to thrive, Spleno... OMIM:617514
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Chromosome 9P Deletion Syndrome
Retrognathia, Clinodactyly of the 5th toe, Sandal gap, Long toe, Perimembranous ventricular septa... OMIM:158170
Keipert Syndrome
Broad distal phalanx of finger, Clinodactyly of the 5th finger, Short hallux, Cognitive impairmen... ORPHA:2662
Pseudoachondroplasia
Disproportionate short-limb short stature, Short long bone, Short metacarpal, Kyphosis, Metaphyse... OMIM:177170
Cleidocranial Dysplasia
Glossoptosis, Sinusitis, Abnormal epiphysis morphology, Abnormal metacarpal morphology, Abnormali... ORPHA:1452
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Overlapping fingers, Mild short stature, Sandal gap, Short hallux, Scoliosis, Absent dorsal skin ... OMIM:618167
Obesity Due To Congenital Leptin Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... ORPHA:66628
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Hepatomegaly, Diffuse pancreatic islet hyperplasia, Hypoketotic hypoglycem... ORPHA:276556
Kagami-Ogata Syndrome
Kyphoscoliosis, Retrognathia, Inguinal hernia, Anteverted nares, Seizure, Omphalocele, Hypoplasia... OMIM:608149
Hypothyroidism, Congenital, Nongoitrous, 4
Severe postnatal growth retardation, Wide anterior fontanel OMIM:275100
Hip Dysplasia, Beukes Type
Abnormal bone ossification, Abnormality of bone mineral density, Scoliosis, Kyphosis, Coxa vara, ... ORPHA:2114
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Mandibular prognathia, Scoliosis, Kyphosis, Hypoplasia of the maxilla, Slender build, Prominent n... OMIM:300676
Spondyloepimetaphyseal Dysplasia, Irapa Type
Limited elbow extension, Hypoplastic sacrum, Genu valgum, Enlargement of the costochondral juncti... OMIM:271650
Smith-Kingsmore Syndrome
Short nose, Short proximal phalanx of finger, Large for gestational age, Deep palmar crease, Rhiz... OMIM:616638
Cleidocranial Dysplasia 2
Osteopenia, Genu valgum, Delayed pubic bone ossification, Short clavicles, Delayed ossification o... OMIM:620099
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Retrognathia, Limited elbow movement, Kyphoscoliosis, Ventricular hypert... OMIM:300280
Acute Monoblastic/Monocytic Leukemia
Cervical lymphadenopathy, Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Weight l... ORPHA:514
Bangstad Syndrome
Hyperinsulinemia, Abnormal testis morphology, Hypothyroidism, Primary gonadal insufficiency, Abno... ORPHA:1227
Diastrophic Dysplasia
Proximal placement of thumb, Abnormal form of the vertebral bodies, Kyphosis, Joint stiffness, Sy... ORPHA:628
Tetrasomy 5P
Short nose, Clinodactyly of the 5th finger, Short hallux, Anteverted nares, Seizure, Wide anterio... ORPHA:3309
Autosomal Dominant Spondylocostal Dysostosis
Spina bifida occulta, Short thorax, Scoliosis, Hyperlordosis, Vertebral segmentation defect, Abno... ORPHA:1797
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Short stature, Abnormal rib morphology ORPHA:2435
Insulinoma
Hyperinsulinemia, Neoplasm of the adrenal gland, Primary hyperparathyroidism, Pituitary prolactin... ORPHA:97279
Monosomy 5P
Inguinal hernia, Finger syndactyly, Abnormality of bone mineral density, Recurrent fractures, Sco... ORPHA:281
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Narrow greater sciatic notch, Genu valgum, Delayed pubic bone ossification, Metaphyseal dappling,... OMIM:184250
Foxp1 Syndrome
Retrognathia, Short nose, Single transverse palmar crease, Mandibular prognathia, Prominent finge... ORPHA:391372
Osteoarthritis With Mild Chondrodysplasia
Beaking of vertebral bodies, Hip osteoarthritis, Knee osteoarthritis, Heberden's node, Joint stif... OMIM:604864
Pallister-Hall Syndrome
Oligodactyly, Shortening of all distal phalanges of the fingers, Decreased circulating cortisol l... OMIM:146510
Bone Marrow Failure And Diabetes Mellitus Syndrome
T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume, Pancytopenia OMIM:620044
Autosomal Recessive Cutis Laxa Type 2A
Inability to walk, Inguinal hernia, Wide anterior fontanel, Seizure, Athetosis, Generalized-onset... ORPHA:357058
Trichorhinophalangeal Syndrome, Type Iii
Supernumerary tooth, Short finger, Cone-shaped epiphyses of the middle phalanges of the hand, Sho... OMIM:190351
Gomez-Lopez-Hernandez Syndrome
Short nose, Decreased response to growth hormone stimulation test, Anteverted nares, Seizure, Wid... OMIM:601853
Acrocapitofemoral Dysplasia
Narrow chest, Short thorax, Pectus carinatum, Scoliosis, Hyperlordosis, Pectus excavatum, Flared ... ORPHA:63446
Teebi Hypertelorism Syndrome 2
Short nose, Clinodactyly of the 5th finger, Delayed eruption of teeth, Wide anterior fontanel, Br... OMIM:619736
Chondrodysplasia Punctata, Autosomal Dominant
Epiphyseal stippling, Scoliosis, Hip contracture, Knee flexion contracture, Hypoplasia of the nas... OMIM:118650
Congenital Disorder Of Glycosylation, Type Ih
Perimembranous ventricular septal defect, Large fontanelles, Camptodactyly, Hypothyroidism, Short... OMIM:608104
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Diabetes mellitus, Hyperglycemia OMIM:606176
Epiphyseal Dysplasia, Multiple, 4
Flat capital femoral epiphysis, Double-layered patella, Scoliosis, Short metacarpal, Hypoplasia o... OMIM:226900
Spondylocostal Dysostosis 2, Autosomal Recessive
Hemivertebrae, Vertebral segmentation defect, Vertebral clefting, Rib fusion, Disproportionate sh... OMIM:608681
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Short nose, Atrial septal defect, Wide anterior fontanel, Patent foramen ovale, Seizure, Scoliosi... ORPHA:457279
Marden-Walker Syndrome
Dextrocardia, Inguinal hernia, Anteverted nares, Seizure, Wide anterior fontanel, Scoliosis, Camp... OMIM:248700
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Osteopenia, Short nose, Perimembranous ventricular septal defect, Transposition of the great arte... OMIM:617877
Obesity Due To Leptin Receptor Gene Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... ORPHA:179494
Autosomal Dominant Brachyolmia
Kyphoscoliosis, Abnormal metaphysis morphology, Increased vertebral height, Short thorax, Short s... ORPHA:93304
Cohen Syndrome
Delayed puberty, Abnormal hip bone morphology, Sandal gap, Kyphosis, Arachnodactyly, Mitral valve... ORPHA:193
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Short distal phalanx of finger, Broad nasal tip, Osteolysis ORPHA:2776
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Kyphoscoliosis, Delayed pubic bone ossification, Proximal placement of thumb, Hypoplastic iliac w... OMIM:613330
Spondylometaphyseal Dysplasia, Kozlowski Type
Kyphoscoliosis, Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand,... OMIM:184252
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Falls, Chorea, Inappropriate laughter, Ataxia, Motor stereotypy, Bruxism, Aggressive behavior OMIM:619150
Pick Disease Of Brain
Irritability, Emotional blunting, Frontotemporal dementia, Polyphagia, Inappropriate laughter, Di... OMIM:172700
Fibular Hemimelia
Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog... ORPHA:93323
Multiple Endocrine Neoplasia Type 4
Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop... ORPHA:276152
Frank-Ter Haar Syndrome
Kyphoscoliosis, Short long bone, Kyphosis, Mitral valve prolapse, Wormian bones, Anteverted nares... OMIM:249420
Cutaneous Neuroendocrine Carcinoma
Basal cell carcinoma, Merkel cell skin cancer, Squamous cell carcinoma of the skin, Chronic nonin... ORPHA:79140
Spondylometaphyseal Dysplasia, Axial
Narrow greater sciatic notch, Rhizomelia, Narrow chest, Scoliosis, Coxa vara, Short stature, Ante... OMIM:602271
Dental Anomalies And Short Stature
Amelogenesis imperfecta, Intervertebral space narrowing, Mandibular prognathia, Scoliosis, Hypopl... OMIM:601216
Epiphyseal Dysplasia, Multiple, 6
Flat distal femoral epiphysis, Irregular epiphyses, Intervertebral disk calcification, Flat capit... OMIM:614135
Smith-Magenis syndrome
Hyperactivity, Brachydactyly, Self-mutilation, Motor stereotypy DECIPHER:8
Behavioral Variant Of Frontotemporal Dementia
Inappropriate behavior, Irritability, Emotional blunting, Restrictive behavior, Frontotemporal de... ORPHA:275864
Mandibuloacral Dysplasia With Type A Lipodystrophy
Narrow nasal ridge, Hyperlipidemia, Impaired glucose tolerance, Joint stiffness, Short distal pha... OMIM:248370
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Hyperinsulinemia, Generalized lipodystrophy, Progressive psychomotor deteri... ORPHA:363400
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope... ORPHA:444463
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Short nose, Wide anterior fontanel, Seizure, Omphalocele, Umbili... ORPHA:2143
Jackson-Weiss Syndrome
Abnormal fibula morphology, Short metatarsal, Mandibular prognathia, 2-3 toe syndactyly, Broad me... ORPHA:1540
Intellectual Developmental Disorder With Or Without Peripheral Neuropathy
Small for gestational age, Retrognathia, Unsteady gait, Wide nasal bridge OMIM:619844
Coffin-Lowry Syndrome
Abnormal form of the vertebral bodies, Short metacarpal, Kyphosis, Abnormal mitral valve morpholo... ORPHA:192
Fraxe Intellectual Disability
Agitation, Clinodactyly of the 5th finger, Hyperactivity, Recurrent hand flapping, Compulsive beh... ORPHA:100973
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Spindle-shaped finger, Abnormal vertebral morphology, Genu valgum, Delayed epiphyseal ossificatio... ORPHA:166024
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
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Osteopenia, Small for gestational age, Seizure, Broad thumb, Failure to thrive, Micrognathia, Lon... OMIM:620194
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Hyperinsulinemia, Precocious puberty in females, Bone cyst, Mandibular prog... ORPHA:528
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia OMIM:619887
Autism, Susceptibility To, X-Linked 3
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:300496
Autism, Susceptibility To, X-Linked 1
Inflexible adherence to routines, Restrictive behavior, Motor stereotypy OMIM:300425
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Long upper lip, Recurrent hand flapping, Compulsive behaviors, Impulsiv... OMIM:309548
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
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
Temtamy Preaxial Brachydactyly Syndrome
Synostosis of carpals/tarsals, Radial deviation of finger, Clinodactyly of the 2nd finger, Comple... ORPHA:363417
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, T lymphocytopenia, Growth delay, Thrombocytopenia, Lymphopenia ORPHA:169079
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Nephroblastoma, Meningioma, Leukemia OMIM:602501
Progeroid Syndrome, Petty Type
Lipoatrophy, Wide anterior fontanel, Mandibular prognathia, Decreased skull ossification, Reduced... ORPHA:2963
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Retrognathia, Clinodactyly of the 5th finger, Seizure, Bifid nasal tip, Oligodactyly, Secundum at... OMIM:619758
Cofs Syndrome
Seizure, Prominent metopic ridge, Joint stiffness, Camptodactyly of finger, Micrognathia, Abnorma... ORPHA:1466
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Rocker bottom foot, Proximal tibial and fibular fusion, Abnormal circulating pre... ORPHA:95699
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal metaphysis morphology, Abnormal clavicle morphology, Large fontanelles, Rhizomelia, Prox... ORPHA:93267
Immunodeficiency 48
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Sple... OMIM:269840
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance OMIM:145750
Immunodeficiency 69
Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Failure to thrive, Hepatosplenomegaly, Sple... OMIM:618963
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A... ORPHA:86843
Hypochondroplasia
Abnormal metaphysis morphology, Childhood onset short-limb short stature, Abnormal femur morpholo... ORPHA:429
Short Stature, Dauber-Argente Type
Increased insulin like growth factor binding protein acid labile subunit concentration, Osteopeni... OMIM:619489
Osteogenesis Imperfecta, Type Ii
Absent ossification of calvaria, Large fontanelles, Bell-shaped thorax, Crumpled long bones, Disp... OMIM:166210
Desbuquois Dysplasia 1
Sandal gap, Hyperlordosis, Flat acetabular roof, Kyphosis, Broad femoral neck, Bifid distal phala... OMIM:251450
Martsolf Syndrome 1
Slender ulna, Cardiomyopathy, Short metacarpal, Broad femoral neck, Joint hypermobility, Inguinal... OMIM:212720
Beta-Thalassemia Intermedia
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Hepatocellular carcinoma, Anemia of inadequate... ORPHA:231222
8Q22.1 Microdeletion Syndrome
Abnormal nostril morphology, Sandal gap, Finger syndactyly, Limitation of joint mobility, Depress... ORPHA:178303
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Type II diabetes mellitus, Impaired glucose tolerance OMIM:610947
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal metaphysis morphology, Short nose, Reduced bone mineral density, Clinodactyly of the 5th... ORPHA:2370
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Delayed puberty, Kyphoscoliosis, Joint hypermobility, Intrauterine growth retardation, Clinodacty... ORPHA:391408
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Short nose, Proximal placement of thumb, Tracheomalacia, Anteverted nares, Wide anterior fontanel... OMIM:217980
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Congenital bilateral hip dislocation, Congenital knee dislocation, Scoliosis, Joint s... OMIM:130060
Trichorhinophalangeal Syndrome Type 2
Abnormal palate morphology, Supernumerary tooth, Genu valgum, Cone-shaped epiphyses of the phalan... ORPHA:502
Intellectual Disability, Wolff Type
Clinodactyly of the 5th finger, Inguinal hernia, Seizure, Scoliosis, Limitation of joint mobility... ORPHA:3080
Greenberg Dysplasia
Abnormal bone ossification, Rhizomelia, Narrow chest, Abnormal form of the vertebral bodies, Abno... ORPHA:1426
20P13 Microdeletion Syndrome
Polydactyly, Finger syndactyly, Wide anterior fontanel, Seizure, Decreased body weight, Prominent... ORPHA:313781
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Failure to thrive, Neutropenia, Absent circulating B cells OMIM:613501
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia OMIM:618856
Dysspondyloenchondromatosis
Kyphoscoliosis, Abnormal fibula morphology, Abnormal ulnar metaphysis morphology, Genu valgum, Jo... ORPHA:85198
Glioma Susceptibility 3
Acute myeloid leukemia, Medulloblastoma, Astrocytoma, B Acute Lymphoblastic Leukemia, Glioblastom... OMIM:613029
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Long nose, Narrow nasal bridge, Hyperextensibility of the finger joints, Seizure, Hypoplasia of t... OMIM:309520
Osteoglophonic Dysplasia
Eruption failure, Short metacarpal, Broad metatarsal, Broad thumb, Craniosynostosis, Rhizomelia, ... OMIM:166250
Wolfram-Like Syndrome
Delayed puberty, Central diabetes insipidus, Male hypogonadism, Hypothyroidism, Diabetes mellitus... ORPHA:411590
Congenital Disorder Of Glycosylation, Type Iie
Retrognathia, Short nose, Perimembranous ventricular septal defect, Wide nose, Seizure, Elevated ... OMIM:608779
Thoracolaryngopelvic Dysplasia
Bell-shaped thorax, Hypoplastic iliac wing, Scoliosis, Short ribs, Irregular chondrocostal juncti... OMIM:187760
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Atrioventricular canal defect, Short first metatarsal, Ulnar bowing, Epip... OMIM:619135
Immunodeficiency 16
Coombs-positive hemolytic anemia, Kaposi's sarcoma, Splenomegaly, Pancytopenia OMIM:615593
Immunodeficiency 75 With Lymphoproliferation
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphoma, Hepatosplenomeg... OMIM:619126
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, Pulmonary hypoplasia OMIM:615228
Osteogenesis Imperfecta, Type Xxiii
Insulin resistance OMIM:620639
Zellweger Syndrome
Epiphyseal stippling, Wide anterior fontanel, Seizure, Cognitive impairment, Failure to thrive, P... ORPHA:912
Immunodeficiency 104
Hepatomegaly, Failure to thrive secondary to recurrent infections, Lymphadenopathy, T lymphocytop... OMIM:608971
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Mandibular prognathia, Cone-shaped epiphyses of the 3rd toe, Hypoplasia of the maxilla, Cone-shap... ORPHA:397973
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
Feingold Syndrome 2
Postnatal growth retardation, 2-3 toe syndactyly, Short middle phalanx of the 5th finger, Short s... OMIM:614326
Immunodeficiency 8 With Lymphoproliferation
Lymphopenia OMIM:615401
Type 1 Diabetes Mellitus
Diabetes mellitus, Hyperglycemia OMIM:222100
Dyggve-Melchior-Clausen Disease
Abnormal hip bone morphology, Abnormal femoral head morphology, Pectus carinatum, Short long bone... ORPHA:239
Thoracomelic Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal fibula morphology, Genu valg... ORPHA:1803
Van Maldergem Syndrome 2
Joint hypermobility, Clinodactyly, Short 4th metacarpal, Sacral dimple, Inguinal hernia, Scoliosi... OMIM:615546
11Q22.2Q22.3 Microdeletion Syndrome
High, narrow palate, Clinodactyly of the 5th finger, Abnormal social behavior, Compulsive behavio... ORPHA:444002
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Thick lower lip vermilion, Mesiodens, Abnormal social behavior, Memory impairment, Wide nose, Ant... ORPHA:314647
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent lower respiratory tract infections, Recurrent bronchitis, Recurrent pneumo... OMIM:616726
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased testicular size, Type II diabetes mel... ORPHA:3085
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Diabetes mellitus, Hepatic steatosis OMIM:615980
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Rocker bottom foot, Lambdoidal craniosynostosis, Ulnar bowing, Wide anterior fontanel, Femoral bo... OMIM:207410
Distal Limb Deficiencies-Micrognathia Syndrome
Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morphology, Aplasia/Hypoplasia o... ORPHA:1307
Developmental And Epileptic Encephalopathy 73
Short nose, Inguinal hernia, Narrow nasal bridge, Seizure, Scoliosis, Failure to thrive, Flexion ... OMIM:618379
Greig Cephalopolysyndactyly Syndrome
Broad thumb, Abnormal heart morphology, Syndactyly, Umbilical hernia, Craniosynostosis, Inguinal ... OMIM:175700
Acropectorovertebral Dysplasia
Abnormal vertebral morphology, Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpa... OMIM:102510
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cubitus valgus, Mandibular prognathia, Seizure, Shuffling gait, Decreased body weight, Tonic seiz... OMIM:300534
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Hepatic steatosis, Insulin-resistant diabetes mellitus ORPHA:436182
Trigonocephaly With Short Stature And Developmental Delay
Lambdoidal craniosynostosis, Clinodactyly of the 5th finger, Inguinal hernia, Premature posterior... OMIM:314320
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Retrognathia, Sacral dimple, Inability to walk, Seizure, Scoliosis, Tapered finger, Decreased bod... OMIM:617452
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Wide anterior fontanel, Increased circulating IgE level, Hypoplasia of the thymus, Increased circ... OMIM:617241
Acrocallosal Syndrome
Abnormal clavicle morphology, Wide anterior fontanel, Triphalangeal thumb, Postaxial hand polydac... ORPHA:36
Periventricular Nodular Heterotopia 7
Generalized non-motor (absence) seizure, Short nose, 1-4 toe syndactyly, Clinodactyly of the 5th ... OMIM:617201
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Sarcoma, Splenomegaly, ... ORPHA:66661
Rubinstein-Taybi Syndrome 1
Retrognathia, Broad distal phalanx of finger, Dislocated radial head, Hypoplastic iliac wing, Pro... OMIM:180849
Acute Peripheral Arterial Occlusion
Myocardial infarction, Stroke, Supraventricular tachycardia, Abnormal capillary physiology, Leuko... ORPHA:90064
Shprintzen-Goldberg Craniosynostosis Syndrome
Dislocated radial head, Arachnodactyly, Mitral valve prolapse, Umbilical hernia, Joint hypermobil... OMIM:182212
Sprengel Deformity
Cervical segmentation defect, Spina bifida occulta, Scoliosis, Hemivertebrae, Sprengel anomaly, R... OMIM:184400
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Short ribs, Short long bone, Flat acetabular roof, Dumbbell-shaped long bone, Hypoplastic ischia,... OMIM:151210
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Inability to walk, Reduced social reciprocity, Motor stereotypy OMIM:617820
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Narrow nasal base, Cleft ala nasi, Wide nose, Mandibular prognathia, Bilateral tonic-clonic seizu... ORPHA:3044
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Van Maldergem Syndrome 1
Osteopenia, Short 4th metacarpal, Sacral dimple, Tracheomalacia, Short clavicles, Wide anterior f... OMIM:601390
N-Acetylaspartate Deficiency
Broad-based gait, Truncal ataxia, Short attention span, Unsteady gait, Motor stereotypy, Self-mut... OMIM:614063
Trimethylaminuria
Anemia, Splenomegaly, Neutropenia OMIM:602079
Orofaciodigital Syndrome Type 10
Retrognathia, Fibular aplasia, Tarsal synostosis, Mesomelic arm shortening, Preaxial polydactyly,... ORPHA:2756
Cerebrofacioarticular Syndrome
Osteopenia, Caudal appendage, Large fontanelles, Bilateral choanal atresia/stenosis, Tracheomalac... ORPHA:314679
Cdkl5-Deficiency Disorder
Difficulty walking, Impaired pain sensation, Everted lower lip vermilion, Stereotypical hand wrin... ORPHA:505652
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Inguinal hernia, Premature posterior fontanelle closure, Seizure, Multiple suture craniosynostosi... ORPHA:3369
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Obsessive-compulsive trait, Long philtrum, Delayed eruption of teeth, Low hanging columella, Dent... OMIM:618825
Spondyloepiphyseal Dysplasia Tarda
Kyphoscoliosis, Limited elbow movement, Spurred metaphyses of the upper limbs, Enlarged metaphyse... ORPHA:93284
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Decreased serum leptin, Decreased adiponectin level, Insulin resistance, Polycystic... ORPHA:435660
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal palate morphology, Abnormal fear-induced behavior, Aggressive behavior, Abnormal digit m... ORPHA:208441
Congenital Bile Acid Synthesis Defect Type 2
Postnatal growth retardation, Jaundice, Giant cell hepatitis, Hepatomegaly, Cholestasis, Prolonge... ORPHA:79303
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Emotional lability, Agitation, Motor stereotypy, Aggressive behavior OMIM:617171
Pandas
Anorexia, Obsessive-compulsive trait, Irritability, Abnormal fear-induced behavior, Depression, C... ORPHA:66624
Distal Xq28 Microduplication Syndrome
Tip-toe gait, Patent foramen ovale, Hypoplasia of the maxilla, Hypothyroidism, Metatarsus adductu... ORPHA:293939
Hereditary Spherocytosis
Jaundice, Anemia, Hepatomegaly, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp... ORPHA:822
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Splenomegaly, Abnormal B cell count, Weight loss ORPHA:100024
Peroxisome Biogenesis Disorder 3A (Zellweger)
Wide anterior fontanel, Epiphyseal stippling OMIM:614859
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Short greater sciatic notch, Pectus carinatum, Flat acetabular r... ORPHA:93314
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Single lineage myelodysplasia, Anemia of inadequate production, Leukocyto... ORPHA:86839
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Motor stereotypy OMIM:300271
Intellectual Developmental Disorder, X-Linked 91
Short nose, Cubitus valgus, Seizure, Short foot, Obesity, Short 5th finger, Clinodactyly, Small hand OMIM:300577
Ciliary Dyskinesia, Primary, 21
Bronchiectasis, Recurrent pneumonia, Atelectasis OMIM:615294
Pfeiffer Syndrome
Short nose, 3-4 toe cutaneous syndactyly, Shortening of all middle phalanges of the fingers, Fing... OMIM:101600
Ritscher-Schinzel Syndrome 2
Atrial septal defect, Clinodactyly of the 5th finger, Wide anterior fontanel, Scoliosis, Prominen... OMIM:300963
Dominant Beta-Thalassemia
Delayed puberty, Cirrhosis, Jaundice, Hypochromic microcytic anemia, Decreased mean corpuscular h... ORPHA:231226
Lethal Congenital Contracture Syndrome Type 1
Abnormal cortical bone morphology, Abnormal hip bone morphology, Slender long bone, Abnormal form... ORPHA:1486
Aneurysm, Intracranial Berry, 12
Internal carotid artery dissection, Subarachnoid hemorrhage, Cerebral berry aneurysm, Arterial fi... OMIM:618734
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Kyphoscoliosis, Short nose, Perimembranous ventricular septal defect, Radial deviation of finger,... OMIM:301040
Trichorhinophalangeal Syndrome Type 1
Supernumerary tooth, Clinodactyly of the 5th finger, Short metatarsal, Pectus carinatum, Long upp... ORPHA:77258
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Atelectasis OMIM:300455
Robinow Syndrome, Autosomal Recessive 1
Retrognathia, Hypoplastic sacrum, Radial deviation of finger, Mesomelic arm shortening, Dislocate... OMIM:268310
Marshall-Smith Syndrome
Short mandibular rami, Retrognathia, Kyphoscoliosis, Atlantoaxial dislocation, Prominent fingerti... OMIM:602535
Peroxisome Biogenesis Disorder 11A (Zellweger)
Large fontanelles, Anteverted nares, Seizure, Wide anterior fontanel, Failure to thrive, Depresse... OMIM:614883
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Retrognathia, Hyperactivity, Dental crowding, Everted lower lip vermilion, Attention deficit hype... OMIM:618342
Alg9-Cdg
Narrow greater sciatic notch, Abnormal bone ossification, Hypoplasia of the ovary, Low insertion ... ORPHA:79328
Craniodiaphyseal Dysplasia, Autosomal Dominant
Elevated circulating parathyroid hormone level, Craniofacial hyperostosis, Diaphyseal sclerosis, ... OMIM:122860
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Hodgkin lymphoma, Splenomegaly, Generalized lymphadenopathy, Absent circulating B c... OMIM:620282
Oculodentodigital Dysplasia, Autosomal Recessive
Long nose, Hypoplasia of the primary teeth, 2-4 toe cutaneous syndactyly, Large fontanelles, Dela... OMIM:257850
Thymoma
Aplastic anemia, Neoplasm of the thyroid gland, Prostate neoplasm, Neoplasm of the gastrointestin... ORPHA:99867
Juberg-Hayward Syndrome
Hypoplasia of the radius, Abnormal vertebral morphology, Abnormality of the wrist, Abnormal metac... ORPHA:2319
Childhood Disintegrative Disorder
Abnormal emotion, Mental deterioration, Progressive language deterioration, Reduced social recipr... ORPHA:168782
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Self-injurious behavior, Micrognathia, Reduced social reciprocity, Stereotypical hand wringing ORPHA:397933
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Attention deficit hyperactivity disorder, Ataxia, Motor stereotypy OMIM:618709
Opitz-Kaveggia Syndrome
Radial deviation of finger, Prominent fingertip pads, Broad thumb, Abnormal heart morphology, Syn... OMIM:305450
Dyggve-Melchior-Clausen Disease
Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape... OMIM:223800
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Recurrent sinusitis, Joint hypermobility, Craniosynostosis, Overlapping toe, Decreased response t... OMIM:213980
Lissencephaly, X-Linked, 2
Wide anterior fontanel, Seizure, Micrognathia, Prominent nasal bridge, Wide nasal bridge OMIM:300215
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Abnormal metacarpal morphology, Abnormal form of the vertebral bodies, Choanal atresia, Hypoplasi... ORPHA:93262
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Lymphadenopathy, Decreased proportion of CD4-positive T cells, Lymph... OMIM:300853
Hallermann-Streiff Syndrome
Hyperactivity, Everted lower lip vermilion, Pectus excavatum, Narrow nose, Narrow palate, Decreas... OMIM:234100
Craniodiaphyseal Dysplasia
Diaphyseal undertubulation, Craniofacial hyperostosis, Abnormal rib morphology, Short stature ORPHA:1513
Orofaciodigital Syndrome Ii
Bifid nasal tip, Syndactyly, Metaphyseal irregularity, Scoliosis, Postaxial hand polydactyly, Sho... OMIM:252100
Mismatch Repair Cancer Syndrome 1
Basal cell carcinoma, T-cell lymphoma, Rhabdomyosarcoma, Pleomorphic xanthoastrocytoma, Leukemia,... OMIM:276300
Andersen Cardiodysrhythmic Periodic Paralysis
Short mandibular rami, Clinodactyly of the 5th toe, Short metacarpal, Prominent frontal sinuses, ... OMIM:170390
Insulin-Like Growth Factor I, Resistance To
Retrognathia, Short finger, Radial deviation of finger, Atrial septal defect, Sandal gap, Patent ... OMIM:270450
Neonatal Adrenoleukodystrophy
Bilateral single transverse palmar creases, Anteverted nares, Seizure, Wide anterior fontanel, Pr... ORPHA:44
Peroxisome Biogenesis Disorder 7A (Zellweger)
Wide anterior fontanel, Large posterior fontanelle, Talipes equinovarus, Epiphyseal stippling OMIM:614872
Fetal Akinesia Deformation Sequence 4
Rocker bottom foot, Retrognathia, Camptodactyly, Kyphosis, Micrognathia, Neonatal death, Short ne... OMIM:618393
Bruck Syndrome 1
Ankle flexion contracture, Pterygium, Vertebral wedging, Pectus carinatum, Scoliosis, Elbow flexi... OMIM:259450
Shwachman-Diamond Syndrome 1
Hepatomegaly, Anemia, Acute myeloid leukemia, Pancytopenia, Myocardial necrosis, Persistence of h... OMIM:260400
Microphthalmia, Syndromic 12
Intestinal malrotation, Neonatal death, Pulmonary hypoplasia, Cleft palate OMIM:615524
Fibrodysplasia Ossificans Progressiva
Abnormality of the first metatarsal bone, Spinal rigidity, Abnormal vertebral morphology, Clinoda... ORPHA:337
Greenberg Dysplasia
Retrognathia, Short long bone, Short metacarpal, Decreased skull ossification, Multiple prenatal ... OMIM:215140
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Cleidocranial Dysplasia 1
Delayed pubic bone ossification, Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic ... OMIM:119600
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Mandibulofacial Dysostosis-Microcephaly Syndrome
Short nose, Seizure, Hypoplasia of the maxilla, Micrognathia, Malar flattening, Preaxial hand pol... ORPHA:79113
Cleft Velum
Cleft soft palate, Velopharyngeal insufficiency, Aspiration pneumonia ORPHA:99772
Schneckenbecken Dysplasia
Disproportionate short-limb short stature, Snail-like ilia, Short ribs, Short long bone, Flat ace... OMIM:269250
Intellectual Developmental Disorder, Autosomal Dominant 7
Thick lower lip vermilion, Hyperactivity, Pectus excavatum, Stereotypical hand wringing, Gait dis... OMIM:614104
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development