Not currently registered for phenotyping at IMPC

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

Gene Summary

CREB binding protein

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Crebbp mutations

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

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

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

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

Disease Similarity of
Matching phenotypes Source
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Hyperinsulinemic Hypoglycemia, Familial, 5
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... OMIM:609968
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus OMIM:600089
Maturity-Onset Diabetes Of The Young, Type 4
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 7
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:610508
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hypoglycemia OMIM:601820
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus OMIM:125852
Type 1 Diabetes Mellitus 20
Type I diabetes mellitus OMIM:612520
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty ORPHA:140941
Maturity-Onset Diabetes Of The Young, Type 1
Maturity-onset diabetes of the young OMIM:125850
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus OMIM:612227
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement
Insulin resistance OMIM:200170
Mahvash Disease
Recurrent pancreatitis, Type II diabetes mellitus, Pancreatic alpha-cell hyperplasia, Increased g... OMIM:619290
Hyperinsulinemic Hypoglycemia, Familial, 1
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:256450
Acid-Labile Subunit Deficiency
Insulin insensitivity, Decreased serum insulin-like growth factor 1, Delayed puberty OMIM:615961
Hyperglycemia, Hyperinsulinemia OMIM:616214
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Multiple Symmetric Lipomatosis
Hepatomegaly, Insulin resistance ORPHA:2398
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... ORPHA:79299
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Rhizomelic Syndrome
Short stature, Rhizomelia, Bifid distal phalanx of the thumb, Wide anterior fontanel, Hip disloca... OMIM:268250
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Refractory anemia with ringed siderob... OMIM:133180
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Polycystic ovaries, Hepati... ORPHA:79084
Cortisone Reductase Deficiency 2
Insulin resistance, Premature pubarche OMIM:614662
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:606762
Fanconi Anemia, Complementation Group G
Myelodysplasia, Anemia, Growth delay, Neutropenia, Leukemia, Thrombocytopenia OMIM:614082
RCAD (renal cysts and diabetes)
Abnormality of the liver, Diabetes mellitus DECIPHER:47
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Leukemia, Lymphoma, Monoclonal immuno... OMIM:153600
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Lymphoproliferative disorder, Autoimmune thrombocyt... OMIM:614470
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Short stature, Abnormality of the elbow, Abnormal rib morphology, Pectus carin... ORPHA:3268
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Diabetes mellitus, Increased glucagon level, Cholelithiasis, Abnormal b... ORPHA:438274
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism, Hyperglycemia OMIM:307500
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Rhizomelic Syndrome, Urbach Type
Abnormality of the knee, Brachydactyly, Rhizomelia, Short stature, Short neck, Abnormality of the... ORPHA:3098
Optic Atrophy--Spastic Paraplegia Syndrome
Abnormal oral glucose tolerance OMIM:311100
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Malignant eosinophil proliferation, Myeloproliferative disorder OMIM:131440
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly OMIM:607685
Glioma susceptibility 9
Renal neoplasm, Astrocytoma, Glioma, Neoplasm of the lung, Leukemia OMIM:616568
Osteogenesis Imperfecta, Type Iii
Recurrent fractures, Severe generalized osteoporosis, Protrusio acetabuli, Multiple prenatal frac... OMIM:259420
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Impaired social interactions, Compulsive behaviors OMIM:618830
Spondylometaphyseal Dysplasia, Type A4
Metaphyseal widening, Pectus carinatum, Narrow greater sciatic notch, Osteoporotic tarsals, Enlar... OMIM:609052
Brachydactyly, Type B1
Type B brachydactyly, Vertebral fusion, Syndactyly, Hypoplastic sacrum, Thoracolumbar scoliosis, ... OMIM:113000
Sponastrime Dysplasia
Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Delayed epiphyseal os... ORPHA:93357
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:608631
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Alpha-Thalassemia-Myelodysplastic Syndrome
Myelodysplasia, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thr... ORPHA:231401
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Lymphadenopathy, Histiocytosis ORPHA:157991
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Spondylometaphyseal Dysplasia, Corner Fracture Type
Short stature, Ovoid vertebral bodies, Hypoplasia of the odontoid process, Coxa vara, Pectus cari... OMIM:184255
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly... ORPHA:158057
Fetal Cytomegalovirus Syndrome
Splenomegaly, Anemia, Hepatomegaly ORPHA:294
Brachyolmia Type 1, Hobaek Type
Osteopenia, Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph... OMIM:271530
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Myelodysplasia, Lymphoma, Leukopenia, Monocytosis, Bon... OMIM:616871
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Increased bone mineral density, Ovoid vertebral bodies, Coxa valga, Short neck, Wide anterior fon... ORPHA:163649
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... ORPHA:75564
Osteogenesis Imperfecta, Type Viii
Osteopenia, Multiple prenatal fractures, Femoral bowing, Tibial bowing, Decreased skull ossificat... OMIM:610915
Immunodeficiency 21
Aplastic anemia, Myelodysplasia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropen... OMIM:614172
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber... OMIM:156530
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Hyperglycemia, Hyperinsulinemia ORPHA:329249
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Unsteady gait, Impaired ability to form peer relationships, Impaired social... OMIM:608636
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia ORPHA:35878
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Myelodysplasia, Abnormal erythrocyte mor... ORPHA:86841
Autism, Susceptibility To, 8
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:607373
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:209850
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormality of the knee, Short stature, Restricted large joint movement, Disproportionate short-t... ORPHA:163665
Obesity And Hypopigmentation
Hyperinsulinemia, Hepatic steatosis OMIM:620195
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Fibrochondrogenesis 1
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate... OMIM:228520
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ... ORPHA:1801
Hip joint hypermobility, Bowing of the legs, Abnormal iliac wing morphology, Narrow greater sciat... ORPHA:15
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp... OMIM:609813
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Anemia, Increased mean corpuscular volume, ... OMIM:619041
Immunodeficiency 24
Lymphoproliferative disorder, Decreased CD4:CD8 ratio, Reduced proportion of mucosal-associated i... OMIM:615897
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diab... ORPHA:324575
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Lymphedema, Primary, With Myelodysplasia
Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Leukemia, Decreased CD4:CD8 ratio, Verrucae OMIM:614038
Snijders Blok-Campeau Syndrome
Joint laxity, Broad-based gait, Inguinal hernia, Infantile spasms, Prominent nose, Unsteady gait,... OMIM:618205
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Osteopenia, Small for gestational age, Hypoplasia of the maxilla, Congenital generalized lipodyst... OMIM:608154
Intellectual Developmental Disorder, Autosomal Recessive 66
Gait ataxia, Shyness, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:618221
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Metatropic Dysplasia
Severe short stature, Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromeli... ORPHA:2635
Anauxetic Dysplasia 3
Beaking of vertebral bodies, Short metacarpal, Severe short stature, Thoracolumbar kyphoscoliosis... OMIM:618853
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia, Myelodysplasia OMIM:162830
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes mellitu... ORPHA:276580
Amed Syndrome, Digenic
Acute myeloid leukemia, Short stature, Myelodysplasia, Anemia, Leukopenia, Bone marrow hypocellul... OMIM:619151
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ... ORPHA:85184
Dislocation Of The Hip-Dysmorphism Syndrome
Prominence of the premaxilla, Inguinal hernia, Anteverted nares, Abnormality of fontanelles, Cong... ORPHA:2412
Lymphoblastic Leukemia, Acute, With Lymphomatous Features
Acute lymphoblastic leukemia, T-cell acute lymphoblastic leukemias, Lymphoma OMIM:247640
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Pectus excavatum, Kyphosis, Pectus... OMIM:259440
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Cachexia, Hematological neoplasm, Porta... ORPHA:824
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ovaries, Insulin-resista... ORPHA:280356
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia,... ORPHA:276608
Preaxial Hallucal Polydactyly
Diabetes mellitus OMIM:601759
Carpenter Syndrome 1
Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, Short... OMIM:201000
Craniometadiaphyseal Dysplasia
Osteopenia, Broad long bones, Short stature, Coxa valga, Cubitus valgus, Wide anterior fontanel, ... OMIM:269300
Frontonasal Dysplasia 1
Frontal cutaneous lipoma, Pericallosal lipoma, Broad nasal tip, Hypoplasia of the maxilla, Bifid ... OMIM:136760
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia OMIM:616873
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P... OMIM:618728
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Hepatic steatosis, Type II diabetes mellitus OMIM:615703
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Decreased hip abduction, Lumbar hyperlordosis, Flat capital femoral epiphysis, Disproportionate s... OMIM:609223
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Hip contracture, Scapular winging, Lumbar hyperlordosis, Short stature, Knee flexion contracture,... OMIM:602484
Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia OMIM:607785
Sandestig-Stefanova Syndrome
Prominent metopic ridge, Small for gestational age, Rocker bottom foot, Short neck, Muscular vent... OMIM:618804
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis,... OMIM:259600
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Myeloproliferative Disease, Autosomal Recessive
Myeloproliferative disorder OMIM:254700
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh... ORPHA:2347
Lujan-Fryns Syndrome
Arachnodactyly, Camptodactyly of finger, Prominent nasal bridge, Micrognathia, Hypoplasia of the ... ORPHA:776
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal rib mor... ORPHA:2790
Hypoplastic scapulae, Short stature, Camptodactyly of finger, Micromelia, Short neck, Wide anteri... ORPHA:2021
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Prominent nose, Short metatarsal,... ORPHA:439822
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Myelodysplasia, Leukocytosis, Bone marrow hypocellularity, Multiple linea... ORPHA:98827
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Abnormal repetitive mannerisms, Impaired social interactions OMIM:606053
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes mellitus, Fasting hypoglyc... ORPHA:276575
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Insulin resistance, Insulin-re... ORPHA:79085
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Acromesomelic Dysplasia, Maroteaux Type
Beaking of vertebral bodies, Bowing of the long bones, Ovoid vertebral bodies, Joint stiffness, H... ORPHA:40
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Myelodysplasia, Neutropenia OMIM:610738
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... OMIM:612840
Immunodeficiency 76
B-cell lymphoma, Splenomegaly, Lymphadenopathy, Growth delay, T lymphocytopenia, B lymphocytopeni... OMIM:619164
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Cohen Syndrome
Thoracic scoliosis, Decreased response to growth hormone stimulation test, Single transverse palm... OMIM:216550
Florid Cemento-Osseous Dysplasia
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Abnormal mandib... ORPHA:83451
Obtuse angle of mandible, Persistent open anterior fontanelle, Decreased response to growth hormo... ORPHA:763
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Pol... OMIM:604367
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Myelodysplasia, Thrombocytopenia OMIM:252270
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant... ORPHA:90301
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... ORPHA:171706
Aarskog-Scott Syndrome
Hyperextensibility of the finger joints, Single transverse palmar crease, Short neck, Hypoplasia ... OMIM:305400
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Gonadotropin deficiency,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Gonadotropin deficiency,... ORPHA:71526
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Joint laxity, Wide nose, Diabetes mellitus, Dorsocervical fat pad, Short neck, Osteoporosis, Gene... OMIM:616033
Body Mass Index Quantitative Trait Locus 19
Insulin resistance, Hyperinsulinemia, Increased serum leptin OMIM:617885
N Syndrome
Leukemia, Neoplasm OMIM:310465
Ataxia-Pancytopenia Syndrome
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... OMIM:159550
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Short stature, Thrombocytopenia, Bone marrow hypocellularit... OMIM:616435
Saul-Wilson Syndrome
Enlarged epiphyses, Short metatarsal, Pectus carinatum, Irregular vertebral endplates, Overtubula... OMIM:618150
20P12.3 Microdeletion Syndrome
Broad hallux phalanx, Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge, Seizu... ORPHA:261295
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome
Wide nose, Abnormal nasal bone morphology, Choanal atresia, Abnormality of the hand, Underdevelop... ORPHA:521308
Chromosome 16Q22 Deletion Syndrome
Prominent metopic ridge, Broad hallux, Short neck, Postnatal growth retardation, Wide anterior fo... OMIM:614541
17Q21.31 Microduplication Syndrome
Toe syndactyly, Anteverted nares, Sandal gap, Micrognathia, Attention deficit hyperactivity disor... ORPHA:217340
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia, B-cell lymphoma OMIM:619437
Parastremmatic Dwarfism
Bowing of the long bones, Severe short stature, Short neck, Kyphosis, Flexion contracture, Genu v... OMIM:168400
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Pl... OMIM:601356
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia OMIM:261650
Wt Limb-Blood Syndrome
Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia OMIM:194350
Immunodeficiency 36 With Lymphoproliferation
Short stature, B-cell lymphoma, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Growt... OMIM:616005
Mesomelic Dysplasia, Kantaputra Type
Short stature, Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal r... ORPHA:1836
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Microcephaly-Capillary Malformation Syndrome
Wide nose, Brachydactyly, Small for gestational age, Ventricular septal defect, Infantile spasms,... OMIM:614261
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Osteoporosis, Abnorma... ORPHA:93351
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic... OMIM:262190
Essential Fructosuria
Hyperglycemia ORPHA:2056
Lipodystrophy, Familial Partial, Type 4
Insulin-resistant diabetes mellitus, Insulin resistance, Hepatic steatosis OMIM:613877
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2
Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Leukemia, Cirrhosis, Myeloid leukemia OMIM:614743
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss,... ORPHA:3226
Maxillonasal Dysplasia
Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ... ORPHA:1248
Cranial Nerves, Recurrent Paresis Of
Diabetes mellitus OMIM:218200
Fanconi Anemia, Complementation Group D1
Acute myeloid leukemia, Short stature, T-cell acute lymphoblastic leukemias, Bone marrow hypocell... OMIM:605724
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper... OMIM:609616
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Metaphyseal dysplasia, Hypoplasia of the maxilla, Short middle phalanx of the 2nd finger, Multipl... OMIM:156510
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Hepatocellular adenoma... ORPHA:552
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Aggressive Systemic Mastocytosis
Pancytopenia, Portal hypertension, Hematological neoplasm, Hypersplenism, Thrombocytopenia, Leuko... ORPHA:98850
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Axial Spondylometaphyseal Dysplasia
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Mild postnatal growth retard... ORPHA:168549
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia OMIM:240900
Acquired Partial Lipodystrophy
Insulin resistance, Hepatic steatosis ORPHA:79087
Li-Fraumeni Syndrome
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... ORPHA:524
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatosplenomegaly, Hepatic st... OMIM:612526
Gillessen-Kaesbach-Nishimura Syndrome
Omphalocele, Ulnar deviation of the hand, Congenital diaphragmatic hernia, Micrognathia, Underdev... OMIM:263210
Familial Renal Glucosuria
Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm... ORPHA:69076
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Maturity-onset diabetes of the young, Exocrine pancreatic insufficiency OMIM:609812
Hepatic Adenomas, Familial
Hepatocellular adenoma, Maturity-onset diabetes of the young, Polycystic ovaries OMIM:142330
Mismatch Repair Cancer Syndrome 2
Glioblastoma multiforme, T-cell acute lymphoblastic leukemias OMIM:619096
Heart Defects-Limb Shortening Syndrome
Mesomelic/rhizomelic limb shortening, Kyphosis, Disproportionate short stature, Abnormal rib morp... ORPHA:1354
Aarskog-Scott Syndrome
Delayed eruption of teeth, Short palm, Inguinal hernia, Finger syndactyly, Anteverted nares, Camp... ORPHA:915
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Myelodysplasia, Acute lymphoblastic leukem... ORPHA:486
Transient Neonatal Diabetes Mellitus
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... ORPHA:99886
Spondylometaphyseal Dysplasia, A4 Type
Severe short stature, Micromelia, Limitation of joint mobility, Coxa vara, Platyspondyly, Flared,... ORPHA:168555
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Myeloid leukemia, Hepatomegaly, Neutrophilia, Myelodysplasia, Leukocytosis, Ly... ORPHA:98849
Craniofacial-Deafness-Hand Syndrome
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Camptodactyly of finger, Ulnar dev... ORPHA:1529
Stickler Syndrome Type 1
Hypoplasia of the maxilla, Osteoarthritis, Mitral valve prolapse, Joint hyperflexibility, Platysp... ORPHA:90653
Osteogenesis Imperfecta, Type Vii
Osteopenia, Micromelia, Bowing of the legs, Multiple prenatal fractures, Coxa vara, Narrow chest,... OMIM:610682
Multicentric Carpotarsal Osteolysis Syndrome
Osteopenia, Ulnar deviation of the hand, Congenital diaphragmatic hernia, Micrognathia, Hypoplasi... OMIM:166300
Limited hip extension, Distal joint laxity, Generalized joint laxity, Delayed epiphyseal ossifica... ORPHA:750
Larsen-Like Syndrome
Joint laxity, Joint dislocation, Short stature, Kyphoscoliosis, Wide anterior fontanel, Radial de... OMIM:608545
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Severe short stature, Missing ribs, Short neck, Disproportionate... OMIM:122600
Lowry-Maclean Syndrome
Osteopenia, Short nasal bridge, Inguinal hernia, Choanal atresia, Craniosynostosis, Micrognathia,... ORPHA:2409
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B-cell lymphoma, Absenc... OMIM:619924
Primary Erythromelalgia
Leukemia ORPHA:90026
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... ORPHA:174
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Inguinal hernia, Sacral dimple, Anteverted nares, Depressed nasal bridge, Large for gestational a... OMIM:618272
Dohle Bodies And Leukemia
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia OMIM:223350
Mandibuloacral Dysplasia
Micrognathia, Increased intraabdominal fat, Glucose intolerance, Increased circulating free fatty... ORPHA:2457
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Tapered finger, Hypoplasia of the maxilla, Inability to walk, Long fingers, Flexion contracture, ... OMIM:218000
Catel-Manzke Syndrome
Ventricular septal defect, Camptodactyly of finger, Micrognathia, Joint stiffness, Metatarsus val... ORPHA:1388
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Joint laxity, Hypoplasia of the ulna, Short stature, Tapered finger, Short neck, Multiple joint d... OMIM:618395
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominence of the premaxilla, Delayed closure of the anterior fontanelle, Prominent nose, Wide an... OMIM:614886
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Severe short stature, Block vertebrae, Short stature, Abnormal odont... OMIM:277300
Maturity-Onset Diabetes Of The Young, Type 13
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:253240
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... OMIM:151623
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia OMIM:618858
Chromosome 3Q29 Deletion Syndrome
Thin upper lip vermilion, Hyperactivity, Prominent nasal bridge, Aggressive behavior, Tapered fin... OMIM:609425
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa... ORPHA:1860
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Hypoplasia of the maxilla, Depressed nasal ridge, Atrial septal defect, Thick ... ORPHA:79345
Grant Syndrome
Joint dislocation, Bowing of the long bones, Short stature, Abnormal rib morphology, Large fontan... ORPHA:2097
Mandibular prognathia, Micromelia, Hypoplasia of the maxilla, Depressed nasal ridge, Short metata... ORPHA:950
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Short stature, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Tri... OMIM:617405
Atelosteogenesis, Type Iii
Cervical segmentation defect, Radial bowing, Depressed nasal bridge, Rhizomelia, Sandal gap, Micr... OMIM:108721
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... OMIM:619326
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Mandibuloacral Dysplasia With Type B Lipodystrophy
Micrognathia, Flexion contracture, Glucose intolerance, Hyperglycemia, Short phalanx of finger, L... OMIM:608612
Eng-Strom Syndrome
Short stature, Camptodactyly of finger, Pectus excavatum, Arthritis, Scoliosis, Intrauterine grow... ORPHA:1937
Acrootoocular Syndrome
Delayed eruption of teeth, Short metacarpal, Sandal gap, Abnormal finger flexion crease, Microgna... ORPHA:2980
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Perlman Syndrome
Inguinal hernia, Femoral hernia, Anteverted nares, Micrognathia, Hyperinsulinemia, Wide nasal bri... ORPHA:2849
Autism Spectrum Disorder Due To Auts2 Deficiency
Prominent nasal tip, Inguinal hernia, Small for gestational age, Anteverted nares, Decreased palm... ORPHA:352490
Premature Aging Syndrome, Penttinen Type
Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Elevated circulating thyroid-... OMIM:601812
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Hypoplasia of the maxilla, Neonatal epiphyseal stippling, Elevated circula... OMIM:101800
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Micromelia, Bowing of the legs, Metaphyseal widening, Femoral bowing, Narrow greater sciatic notc... OMIM:608728
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Hyperinsulinemia ORPHA:66518
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Prominent nasal bridge, Camptodactyly of finger, Tapered finger, Hypoplasia of the maxilla, Seizu... ORPHA:85279
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Barrel-shaped chest, Back pain, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, K... OMIM:313400
Dental Anomalies And Short Stature
Mandibular prognathia, Hypoplasia of the maxilla, Mitral valve prolapse, Platyspondyly, Herniatio... OMIM:601216
Metaphyseal Chondrodysplasia, Spahr Type
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Metaphyse... ORPHA:2501
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Neur... ORPHA:443167
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla, Seizure, Small for gestational age, Wide nasal bridge OMIM:618302
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Patent ductus arte... OMIM:617021
Cenani-Lenz Syndrome
Micromelia, Abnormal form of the vertebral bodies, Foot oligodactyly, Hypothyroidism, Synostosis ... ORPHA:3258
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Aggressive behavior, Broad nasal tip, Open mouth, Self-injurious behavior, Compulsive behaviors, ... OMIM:613670
Kagami-Ogata Syndrome
Omphalocele, Inguinal hernia, Ventricular septal defect, Anteverted nares, Depressed nasal bridge... OMIM:608149
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia ORPHA:369873
Chromosome 9P Deletion Syndrome
Micrognathia, Short neck, Atrial septal defect, Long toe, Anteverted nares, Depressed nasal bridg... OMIM:158170
Cutis Laxa, Autosomal Recessive, Type Iia
Inguinal hernia, Congenital hip dislocation, Lipodystrophy, Anteverted nares, Carious teeth, Wide... OMIM:219200
Limited hip extension, Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Osteoart... OMIM:177170
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly, B-cell lymphoma, Weight loss ORPHA:52416
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Pancytopenia, Aplastic anemia, Myelodysplasia, Mediastinal lymphadenopathy, Bone marrow hypocellu... OMIM:614742
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... ORPHA:2114
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Lumbar hyperlordosis, Brachydactyly, Overlapping fingers, Broad hallux, Overlapping toe, Triangul... OMIM:618167
Cohen Syndrome
Micrognathia, Hypoplasia of the maxilla, Clinodactyly of the 5th finger, Finger syndactyly, Arach... ORPHA:193
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micromelia, Bowing of the legs, Short neck, Pectus carinatum, Abnormal calcification of the carpa... OMIM:271665
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Thoracic kyphoscoliosis, Ataxia, Anteverted nares, Arachnodactyly, Broad hallux, Hypoplasia of th... ORPHA:481152
Hypothyroidism, Congenital, Nongoitrous, 4
Wide anterior fontanel, Severe postnatal growth retardation OMIM:275100
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Reactive hypoglycemia, Hypoglycemic seizures, Recurrent hypoglycemia, Hyperinsuline... ORPHA:276556
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Spondyloepimetaphyseal Dysplasia, Irapa Type
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Capitate-hamat... OMIM:271650
Cleidocranial Dysplasia
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Nar... ORPHA:1452
Cleidocranial Dysplasia 2
Osteopenia, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Wide anterior fontanel, Genu v... OMIM:620099
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Osteopenia, Anteverted nares, Sandal gap, Short toe, Anterior open-bite malocclusion, Perimembran... OMIM:617877
Uruguay Faciocardiomusculoskeletal Syndrome
Congenital hip dislocation, Elevated circulating creatine kinase concentration, Limited elbow mov... OMIM:300280
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology, Short stature ORPHA:2435
Keipert Syndrome
Broad hallux phalanx, Depressed nasal bridge, Prominent nasal bridge, Short hallux, Aplasia/Hypop... ORPHA:2662
Autosomal Dominant Spondylocostal Dysostosis
Severe short stature, Missing ribs, Short neck, Hyperlordosis, Abnormal sacrum morphology, Short ... ORPHA:1797
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pancreatic bet... ORPHA:79644
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Mandibular prognathia, Short attention span, Failure to thrive, Diabetes mellitus, Single transve... ORPHA:391372
Frank-Ter Haar Syndrome
Osteopenia, Anterior concavity of thoracic vertebrae, Micrognathia, Secundum atrial septal defect... OMIM:249420
Trichorhinophalangeal Syndrome, Type Iii
Thin upper lip vermilion, Short metacarpal, Dental crowding, Underdeveloped nasal alae, Avascular... OMIM:190351
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Weight loss, Lymphocytosis, Hyp... ORPHA:514
Osteoarthritis With Mild Chondrodysplasia
Short stature, Heberden's node, Joint stiffness, Knee osteoarthritis, Schmorl's node, Irregular v... OMIM:604864
Dysostosis, Stanescu Type
Narrow nasal bridge, Increased bone mineral density, Persistent open anterior fontanelle, Wormian... ORPHA:1798
Congenital Disorder Of Glycosylation, Type Ih
Short neck, Decreased circulating T4 concentration, Large fontanelles, Perimembranous ventricular... OMIM:608104
Marden-Walker Syndrome
Inguinal hernia, Anteverted nares, Dextrocardia, Arachnodactyly, Micrognathia, Short neck, Wide a... OMIM:248700
Acrocapitofemoral Dysplasia
Cone-shaped metacarpal epiphyses, Short stature, Abnormal femoral neck morphology, Ovoid vertebra... ORPHA:63446
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... ORPHA:97279
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Severe short stature, Club-shaped proximal femur, Anterior rib cupping, Hyperlordo... OMIM:184250
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital hip dislocation, Bicuspid aortic valve, Ataxia, Ventricular septal defect, Hypoglycemi... ORPHA:457279
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias OMIM:620044
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Mandibular prognathia, Long palm, Prominent nasal bridge, Hypoplasia of the maxilla, Kyphosis, Sc... OMIM:300676
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus OMIM:606176
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating... ORPHA:1227
Diastrophic Dysplasia
Joint dislocation, Abnormal clavicle morphology, Proximal placement of thumb, Micromelia, Symphal... ORPHA:628
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... OMIM:617514
Epiphyseal Dysplasia, Multiple, 4
Epiphyseal dysplasia, Short metacarpal, Short stature, Hypoplasia of the femoral head, Flat capit... OMIM:226900
Smith-Kingsmore Syndrome
Depressed nasal bridge, Hypoglycemia, Rhizomelia, Large for gestational age, Short proximal phala... OMIM:616638
Gomez-Lopez-Hernandez Syndrome
Ataxia, Decreased response to growth hormone stimulation test, Craniosynostosis, Anteverted nares... OMIM:601853
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Postnatal growth retardati... OMIM:608940
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa... OMIM:613330
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Spondylometaphyseal Dysplasia, Kozlowski Type
Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Ha... OMIM:184252
Monosomy 5P
Microretrognathia, Finger syndactyly, Inguinal hernia, Recurrent fractures, Short neck, Small han... ORPHA:281
Autosomal Dominant Brachyolmia
Short stature, Kyphoscoliosis, Increased vertebral height, Short thorax, Platyspondyly, Abnormal ... ORPHA:93304
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Syndactyly, Depressed nasal bridge, Broad nasal tip, Wide anterior fon... OMIM:619736
Chondrodysplasia Punctata, Autosomal Dominant
Hip contracture, Hypoplasia of the nasal bone, Knee flexion contracture, Epiphyseal stippling, Ta... OMIM:118650
Pick Disease Of Brain
Frontotemporal dementia, Polyphagia, Irritability, Disinhibition, Inappropriate laughter, Emotion... OMIM:172700
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Disproportionate short-trunk short sta... OMIM:608681
Progressive Pseudorheumatoid Arthropathy Of Childhood
Enlarged epiphyses, Irregularity of vertebral bodies, Wrist swelling, Coxa vara, Abnormal shoulde... ORPHA:1159
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Frontotemporal dementia, ... ORPHA:275864
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Ataxia, Aggressive behavior, Chorea, Falls, Inappropriate laughter, Bruxism, Abnormal repetitive ... OMIM:619150
Tetrasomy 5P
Pericallosal lipoma, Cyanosis, Anteverted nares, Overlapping toe, Short hallux, Micrognathia, Sho... ORPHA:3309
Donnai-Barrow Syndrome
Omphalocele, Depressed nasal bridge, Ventricular septal defect, Congenital diaphragmatic hernia, ... ORPHA:2143
Cutaneous Neuroendocrine Carcinoma
Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Chronic noninfectious lymphadenopat... ORPHA:79140
Epiphyseal Dysplasia, Multiple, 6
Abnormality of the knee, Flat distal femoral epiphysis, Flat capital femoral epiphysis, Osteoarth... OMIM:614135
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Acute myeloid leukemia OMIM:246470
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Acroosteolysis of distal phalanges (feet), Micrognathia, Flexion contracture, Hypergl... OMIM:248370
Acrofacial Dysostosis Syndrome Of Rodriguez
11 pairs of ribs, Overlapping toe, Short stature, Wide anterior fontanel, Fibular hypoplasia, Tri... OMIM:201170
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation, Brachydactyly DECIPHER:8
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Coffin-Lowry Syndrome
Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Abnormal tricuspid valve morpho... ORPHA:192
Congenital Generalized Lipodystrophy
Mandibular prognathia, Diabetes mellitus, Lipodystrophy, Precocious puberty in females, Hypertrig... ORPHA:528
Bruck Syndrome 1
Joint laxity, Hip contracture, Short stature, Protrusio acetabuli, Ankle flexion contracture, Kyp... OMIM:259450
Autosomal Recessive Cutis Laxa Type 2A
Inguinal hernia, Persistent open anterior fontanelle, Ataxia, Prominent nasal bridge, Delayed cra... ORPHA:357058
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Enlarged joints, Short stature, Pectus excavatum, Delayed epiphyseal ossification, Cutaneous synd... ORPHA:166024
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Ataxia, Reduced intraabdominal adipose... ORPHA:363400
Fraxe Intellectual Disability
Hyperactivity, Prominent nasal bridge, Impulsivity, Aggressive behavior, Stereotypical body rocki... ORPHA:100973
Essential Thrombocythemia
Splenomegaly, Myelodysplasia, Abnormal platelet morphology, Acute leukemia ORPHA:3318
Leukemia, Acute, X-Linked
Acute leukemia OMIM:308960
Leukemia, Acute Monocytic
Acute monocytic leukemia OMIM:151380
Leukemia, Acute Lymphoblastic
Acute lymphoblastic leukemia OMIM:613065
Leukemia, Acute Myeloid
Acute myeloid leukemia OMIM:601626
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, B lymphocytopenia, Failure to thrive in infancy, Abnormally low T cell ... OMIM:618987
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, Growth delay, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300425
Hypertriglyceridemia 1
Glucose intolerance, Hypopituitarism OMIM:145750
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Osteopenia, Hallux valgus, Diabetes mellitus, Small for gestational age, Micrognathia, Secundum a... OMIM:620194
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Prominent nasal bridge, Impulsivity, Aggressive behavior, Stereotypical body rocki... OMIM:309548
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal form of the vertebral bodies, Reduced bone mineral density, Abnormal pelvic girdle bone ... ORPHA:2370
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Leukemia, Nephroblastoma, Meningioma OMIM:602501
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Syndactyly, Anteverted nares, Depressed nasal bridge, Proximal placement of thumb, Micrognathia, ... OMIM:217980
Spondylometaphyseal Dysplasia, Axial
Rhizomelia, Anterior rib cupping, Short stature, Proximal femoral metaphyseal irregularity, Dispr... OMIM:602271
Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Osteoarthritis, Ab... ORPHA:429
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Pallor, Anemia ORPHA:46532
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ... ORPHA:93267
Congenital Disorder Of Glycosylation, Type Iie
Wide nose, Hypoglycemia, Elevated circulating creatine kinase concentration, Micrognathia, Secund... OMIM:608779
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... ORPHA:86843
Intellectual Developmental Disorder With Or Without Peripheral Neuropathy
Unsteady gait, Retrognathia, Small for gestational age, Wide nasal bridge OMIM:619844
Temtamy Preaxial Brachydactyly Syndrome
Micrognathia, Hypoplasia of the maxilla, Partial duplication of the proximal phalanx of the 3rd f... ORPHA:363417
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Recurrent fractures, Beaded ribs, Multiple prenatal fractu... OMIM:166210
Rubinstein-Taybi Syndrome 1
Single transverse palmar crease, Premature thelarche, Micrognathia, Hypoplasia of the maxilla, Pr... OMIM:180849
Progeroid Syndrome, Petty Type
Mandibular prognathia, Reduced subcutaneous adipose tissue, Lipoatrophy, Wide anterior fontanel, ... ORPHA:2963
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Failure to thrive, ... OMIM:618963
Shprintzen-Goldberg Craniosynostosis Syndrome
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Dislocated radial head... OMIM:182212
Fibular Hemimelia
Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, Short tibia, Ar... ORPHA:93323
Martsolf Syndrome 1
Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Finger joint hy... OMIM:212720
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Impaired glucose tolerance, Type II diabetes mellitus OMIM:610947
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Anteverted nares, Micrognathia, Wide anterior fontanel, Ulnar bowing, Poo... OMIM:619135
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Abnormal circulating insulin concentration, Hypoglycemic seizures, Incre... ORPHA:293964
Trichorhinophalangeal Syndrome Type 2
Thin upper lip vermilion, Abnormality of the dentition, Avascular necrosis of the capital femoral... ORPHA:502
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies
Thin upper lip vermilion, Thick nasal alae, Tapered finger, Broad nasal tip, Wide nasal bridge, N... OMIM:618147
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Hyperglycemia OMIM:618856
Jackson-Weiss Syndrome
Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Short met... ORPHA:1540
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Joint laxity, Hyperextensibility of the finger joints, Narrow nasal bridge, Ventricular septal de... OMIM:309520
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Joint dislocation, Enlarged joints, Short stature, Kyphoscoliosis, Osteoarthritis, Generalized jo... ORPHA:85198
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:615872
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Lymphoma, Decreased proportion of class-switched memory B cells, Lymphade... OMIM:619126
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Wide nose, Ataxia, Anteverted nares, Aggressive behavior, Bulbous nose, Unsteady gait, Thick lowe... ORPHA:314647
Cofs Syndrome
Prominent metopic ridge, Camptodactyly of finger, Micrognathia, Joint stiffness, Abnormal nasal m... ORPHA:1466
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Acute monocytic leukemia, Myelodysplasia, Lymphoma, Neuroblastoma, Abnorm... OMIM:601399
Wolfram-Like Syndrome
Diabetes mellitus, Glucose intolerance, Primary gonadal insufficiency, Delayed puberty, Male hypo... ORPHA:411590
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... ORPHA:95699
Immunodeficiency 104
Hepatomegaly, Splenomegaly, Lymphadenopathy, T lymphocytopenia, Failure to thrive secondary to re... OMIM:608971
8Q22.1 Microdeletion Syndrome
Finger syndactyly, Sandal gap, Camptodactyly of finger, Craniosynostosis, Short neck, Hypoplasia ... ORPHA:178303
Immunodeficiency 16
Splenomegaly, Pancytopenia, Kaposi's sarcoma, Coombs-positive hemolytic anemia OMIM:615593
Zellweger Syndrome
Ventricular septal defect, Depressed nasal bridge, Micrognathia, Wide anterior fontanel, Primary ... ORPHA:912
Agammaglobulinemia 3, Autosomal Recessive
Failure to thrive, Neutropenia, Absent circulating B cells, Abnormal T cell morphology OMIM:613501
Thoracolaryngopelvic Dysplasia
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ... OMIM:187760
Short Stature, Dauber-Argente Type
Osteopenia, Delayed eruption of teeth, Long toe, Arachnodactyly, Decreased fibular diameter, Long... OMIM:619489
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Short distal phalanx of finger, Osteolysis, Broad nasal tip ORPHA:2776
11Q22.2Q22.3 Microdeletion Syndrome
Short attention span, Thin upper lip vermilion, Depressed nasal bridge, Micrognathia, High, narro... ORPHA:444002
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Glioma Susceptibility 3
Acute myeloid leukemia, Glioblastoma multiforme, Astrocytoma, B Acute Lymphoblastic Leukemia, Med... OMIM:613029
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Micrognathia, Short neck, Hypothyroidism, Joint laxity, Anteverted nares, Deviation of the 5th to... ORPHA:391408
20P13 Microdeletion Syndrome
Finger syndactyly, Failure to thrive in infancy, Prominent nasal bridge, Wide anterior fontanel, ... ORPHA:313781
Desbuquois Dysplasia 1
Triangular shaped phalanges of the hand, Short neck, Osteoarthritis, Metaphyseal widening, Short ... OMIM:251450
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Joint laxity, Hallux valgus, Contracture of the proximal interphalangeal joint of the... OMIM:130060
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Feingold Syndrome 2
Short stature, Short middle phalanx of the 2nd finger, Short thumb, Postnatal growth retardation,... OMIM:614326
Thoracomelic Dysplasia
Short neck, Hyperlordosis, Elbow dislocation, Abnormal fibula morphology, Genu valgum, Bell-shape... ORPHA:1803
Anorexia, Impulsivity, Abnormal fear-induced behavior, Chorea, Depression, Irritability, Tics, At... ORPHA:66624
Intellectual Disability, Wolff Type
Microretrognathia, Inguinal hernia, Camptodactyly of finger, Bulbous nose, Limitation of joint mo... ORPHA:3080
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Mandibular prognathia, Hallux valgus, Cone-shaped epiphyses of the 3rd toe, Hypoplasia of the max... ORPHA:397973
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ... ORPHA:231222
Cerebrofacioarticular Syndrome
Osteopenia, Syndactyly, Ataxia, Micrognathia, Hypoplasia of the maxilla, Bilateral choanal atresi... ORPHA:314679
Trigonocephaly With Short Stature And Developmental Delay
Inguinal hernia, Small for gestational age, Ventricular septal defect, Sagittal craniosynostosis,... OMIM:314320
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... OMIM:146510
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Abn... OMIM:102510
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Diabetes mellitus, Hepatic steatosis OMIM:615980
Immunodeficiency 8 With Lymphoproliferation
Lymphopenia OMIM:615401
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Hepatic steatosis ORPHA:436182
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Sacral dimple, Ventricular septal defect, Prominent nasal bridge, Overlapping toe, Tapered finger... OMIM:617452
Acute Peripheral Arterial Occlusion
Myocardial infarction, Abnormal capillary physiology, Leukocytosis, Absent ankle pulse, Stroke, P... ORPHA:90064
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Abnormal repetitive mannerisms, Emotional lability, Agitation, Aggressive behavior OMIM:617171
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Inguinal hernia, Ventricular septal defect, Small for gestational age, Fifth finger distal phalan... ORPHA:3369
Acrocallosal Syndrome
Abnormal clavicle morphology, Postaxial hand polydactyly, Wide anterior fontanel, Triphalangeal t... ORPHA:36
Osteoglophonic Dysplasia
Osteopenia, Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short metatarsal, Erupt... OMIM:166250
Sprengel Deformity
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... OMIM:184400
Van Maldergem Syndrome 2
Osteopenia, Short fourth metatarsal, Micrognathia, Hypoplasia of the maxilla, Cutaneous syndactyl... OMIM:615546
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Mandibular prognathia, Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Taper... OMIM:301040
Periventricular Nodular Heterotopia 7
Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Ataxia, E... OMIM:617201
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphadenopathy, Mastocytos... ORPHA:66661
Distal Xq28 Microduplication Syndrome
Epistaxis, Broad nasal tip, Hypoplasia of the maxilla, Patent foramen ovale, Metatarsus adductus,... ORPHA:293939
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis, Abnormal digit morph... ORPHA:208441
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Insulin resistance, Insulin-re... ORPHA:435660
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Depressed nasal bridge, Choanal atresia, Arachnodactyly, Rocker bottom foot, Wide anterior fontan... OMIM:207410
Splenomegaly, Anemia, Neutropenia OMIM:602079
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... ORPHA:822
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Weight loss, Lymphadenopathy, Anemia ORPHA:100024
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Polycystic ovaries, Type II dia... ORPHA:3085
Ritscher-Schinzel Syndrome 2
Prominent fingertip pads, Syndactyly, Ventricular septal defect, Camptodactyly of finger, Broad h... OMIM:300963
Van Maldergem Syndrome 1
Osteopenia, Joint laxity, Short fourth metatarsal, Sacral dimple, Wide cranial sutures, Wide ante... OMIM:601390
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... ORPHA:93314
N-Acetylaspartate Deficiency
Short attention span, Broad-based gait, Unsteady gait, Truncal ataxia, Abnormal repetitive manner... OMIM:614063
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Postnatal growth retardation, J... ORPHA:79303
Greig Cephalopolysyndactyly Syndrome
Broad hallux phalanx, Inguinal hernia, Broad hallux, Craniosynostosis, 1-3 toe syndactyly, Preaxi... OMIM:175700
Peroxisome Biogenesis Disorder 3A (Zellweger)
Epiphyseal stippling, Wide anterior fontanel OMIM:614859
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Retinitis Pigmentosa
Hypogonadism, Abnormal testis morphology, Hyperinsulinemia, Type II diabetes mellitus ORPHA:791
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Mandibular prognathia, Brachydactyly, Prominent nasal bridge, Micrognathia, Hypoplasia of the max... OMIM:300534
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Delayed eruption of teeth, Pain insensitivity, Anteverted nares, Prominent nasal bridge, Dental c... OMIM:618825
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Broad nasal tip, Secundum atrial septal defect, Bifid nasal tip, Short foot, Seizure, Clinodactyl... OMIM:619758
Lethal Congenital Contracture Syndrome Type 1
Short stature, Recurrent fractures, Short neck, Limitation of joint mobility, Abnormal rib morpho... ORPHA:1486
Aneurysm, Intracranial Berry, 12
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... OMIM:618734
Opitz-Kaveggia Syndrome
Multiple joint contractures, Single transverse palmar crease, Micrognathia, Prominent nose, Short... OMIM:305450
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Overlapping toe, Carious teeth, Long nose, Muscular ventricular septal defect, Dental malocclusio... ORPHA:363444
Micrognathia, Short neck, Right ventricular dilatation, Abnormal left ventricular outflow tract m... ORPHA:79328
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Hodgkin lymphoma, Absent circulating B c... OMIM:620282
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Single lineage myelodysplasia, Anemia of inadequate production, Leukocyto... ORPHA:86839
Juberg-Hayward Syndrome
Severe short stature, Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal rib morphol... ORPHA:2319
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Mandibular prognathia, Eunuchoid habitus, Wide nose, Cleft ala nasi, Narrow nasal base, Febrile s... ORPHA:3044
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Dental crowding, Micrognathia, High palate, Short philtrum, Abnormal repetitive mannerisms, Hyper... OMIM:618342
Robinow Syndrome, Autosomal Recessive 1
Micrognathia, Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the d... OMIM:268310
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Micromelia, Short neck, Narrow chest, Neonatal short-limb short stature, Severe limb shortening, ... OMIM:151210
Greenberg Dysplasia
Abnormally ossified vertebrae, Rhizomelia, Micromelia, Abnormal pelvis bone ossification, Anterio... ORPHA:1426
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Lymphoproliferative disorder, B-cell lymphoma, Auto... OMIM:300853
Trichorhinophalangeal Syndrome Type 1
Short metacarpal, Camptodactyly of finger, Micrognathia, Avascular necrosis of the capital femora... ORPHA:77258
Dyggve-Melchior-Clausen Disease
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral... OMIM:223800
Intellectual Developmental Disorder, X-Linked 91
Small hand, Obesity, Short foot, Seizure, Short 5th finger, Cubitus valgus, Clinodactyly, Short nose OMIM:300577
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, M... OMIM:213980
Childhood Disintegrative Disorder
Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora... ORPHA:168782
Insulin-Like Growth Factor I, Resistance To
Reduced subcutaneous adipose tissue, Diabetes mellitus, Ventricular septal defect, Lipodystrophy,... OMIM:270450
Mandibulofacial Dysostosis-Microcephaly Syndrome
Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Seizure, Atrial septal defect... ORPHA:79113
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Small for gestational age, Failure to thrive in infancy, Depressed nasal bridge, Wide anterior fo... OMIM:617241
Craniodiaphyseal Dysplasia
Diaphyseal thickening, Craniofacial hyperostosis, Abnormal rib morphology, Short stature ORPHA:1513
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618709
Cdkl5-Deficiency Disorder
Hallux valgus, Broad proximal phalanges of the hand, Impaired pain sensation, Deep philtrum, Gait... ORPHA:505652
Peroxisome Biogenesis Disorder 7A (Zellweger)
Epiphyseal stippling, Large posterior fontanelle, Wide anterior fontanel, Talipes equinovarus OMIM:614872
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Short hallux, Spinal rigidity, Limitation of joint mobility, Ectopic ossification ... ORPHA:337
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Myocardial necrosis, Pancytopenia, Hepatomegaly, Small for gestational ag... OMIM:260400
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Marshall-Smith Syndrome
Thoracic scoliosis, Large sternal ossification centers, Distal widening of metacarpals, Coxa vara... OMIM:602535
Heart And Brain Malformation Syndrome
Prominent metopic ridge, Anteverted nares, Ventricular septal defect, Camptodactyly of finger, De... OMIM:616920
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Peroxisome Biogenesis Disorder 11A (Zellweger)
Depressed nasal bridge, Anteverted nares, Wide anterior fontanel, Large fontanelles, Seizure, Fai... OMIM:614883
Developmental And Epileptic Encephalopathy 73
Narrow nasal bridge, Inguinal hernia, Flexion contracture, Seizure, Hip dysplasia, Scoliosis, Sho... OMIM:618379
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Wide cranial sutures, Broad long bones, Fifth finger distal phalanx cl... OMIM:257850
Hallermann-Streiff Syndrome
Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, Choreoathetosi... OMIM:234100
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Hyperextensibility of the finger joints, Short neck, Atrial septal defect, Ataxia, Arachnodactyly... ORPHA:505237
Cleidocranial Dysplasia 1
Micrognathia, Short middle phalanx of the 2nd finger, Absent frontal sinuses, High, narrow palate... OMIM:119600
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Choanal atresia, Hypoplasia of the maxilla, Abnormal sacrum morphology, Abnormal form of the vert... ORPHA:93262
Andersen Cardiodysrhythmic Periodic Paralysis
Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Short palm, Antegonial notching of man... OMIM:170390
Craniodiaphyseal Dysplasia, Autosomal Dominant
Mandibular prognathia, Craniofacial hyperostosis, Depressed nasal bridge, Cortical sclerosis, Cra... OMIM:122860
Lissencephaly, X-Linked, 2
Prominent nasal bridge, Micrognathia, Wide anterior fontanel, Wide nasal bridge, Seizure OMIM:300215
Shprintzen-Goldberg Syndrome
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Antev... ORPHA:2462
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia OMIM:619887
Aplastic anemia, Pure red cell aplasia, Neoplasm of head and neck, Imbalanced hemoglobin synthesi... ORPHA:99867
Mohr Syndrome
Micrognathia, Hypoplasia of the maxilla, Short palm, Clinodactyly of the 5th finger, Syndactyly, ... OMIM:252100
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperglycemia OMIM:608600
Neonatal Adrenoleukodystrophy
Anteverted nares, Wide anterior fontanel, Primary adrenal insufficiency, Wide nasal bridge, Seizu... ORPHA:44
Tricho-Retino-Dento-Digital Syndrome
Abnormality of the dentition, Supernumerary tooth, Oligodontia, Short 5th metacarpal, Brachydactyly ORPHA:1264
Fetal Akinesia Deformation Sequence 4
Rocker bottom foot, Micrognathia, Short neck, Kyphosis, Wide nasal bridge, Camptodactyly, Neonata... OMIM:618393
Pfeiffer Syndrome
Mandibular prognathia, Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the f... OMIM:101600
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia OMIM:259710
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ... OMIM:212050
Sweeney-Cox Syndrome
2-4 finger syndactyly, Prominent metopic ridge, 2-5 finger cutaneous syndactyly, Choanal atresia,... OMIM:617746
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr... ORPHA:231226
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Mismatch Repair Cancer Syndrome 1
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... OMIM:276300
Distal Limb Deficiencies-Micrognathia Syndrome
Microretrognathia, Aplasia/Hypoplasia of the thumb, Prominent nasal bridge, Tarsal synostosis, Ab... ORPHA:1307
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Osteoarthritis, Ulnar bowing, Flared me... OMIM:602111
Jeune Syndrome