Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Edema |
OMIM:613267 |
Lipedema |
|
Edema |
OMIM:614103 |
Angioedema, Hereditary, 6 |
|
Angioedema, Facial edema, Edema of the dorsum of hands |
OMIM:619363 |
Lymphatic Malformation 11 |
|
Lymphedema, Pedal edema |
OMIM:619401 |
Dysplasia Of Head Of Femur, Meyer Type |
|
Multicentric femoral head ossification, Flattened femoral head, Leukocytosis, Enlarged tonsils, C... |
ORPHA:168621 |
Kaposi Sarcoma, Susceptibility To |
|
Edema |
OMIM:148000 |
Lymphatic Malformation 2 |
|
Lymphedema |
OMIM:611944 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Gray matter heterotopia, Impulsivity, Hyperactivity, Polymicrogyria, Lissencephaly, Aggressive be... |
OMIM:604317 |
Syndactyly Type 4 |
|
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... |
ORPHA:93405 |
Angioedema, Hereditary, 5 |
|
Angioedema, Facial edema, Edema of the dorsum of hands |
OMIM:619361 |
Lissencephaly, X-Linked, 1 |
|
Ataxia, Gray matter heterotopia, Agyria, Lissencephaly, Postnatal growth retardation, Pachygyria,... |
OMIM:300067 |
Acromesomelic Dysplasia 2A |
|
Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/Hypoplasia of the pate... |
OMIM:200700 |
Acromesomelic Dysplasia 2C |
|
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... |
OMIM:201250 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... |
OMIM:607778 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... |
OMIM:118651 |
Osebold-Remondini Syndrome |
|
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... |
OMIM:112910 |
Acromesomelic Dysplasia, Grebe Type |
|
Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydactyly, Micromelia, S... |
ORPHA:2098 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplastic left heart, Hypoplasia of the radius, Radial club hand, Short tibi... |
ORPHA:1972 |
Phosphoserine Phosphatase Deficiency |
|
Postnatal growth retardation, Intrauterine growth retardation |
OMIM:614023 |
Fibular Hemimelia |
|
Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Thrombocytopenia, Abnorma... |
ORPHA:93323 |
Lissencephaly 3 |
|
Ataxia, Gray matter heterotopia, Polymicrogyria, Agyria, Lissencephaly, Pachygyria, Agenesis of c... |
OMIM:611603 |
Langer Mesomelic Dysplasia |
|
Radial bowing, Hypoplasia of the radius, Micrognathia, Broad ulna, Short tibia, Rudimentary fibul... |
OMIM:249700 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Leri-Weill Dyschondrosteosis |
|
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Hypoplasia... |
OMIM:127300 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Pulmonary edema, Edema |
OMIM:178400 |
Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria, Intraut... |
OMIM:615411 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Tibial bowing, Hand oligodactyly, Short tibia, Syndactyly, Foot oligodactyly, Fibular aplasia |
OMIM:246570 |
Acheiropody |
|
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... |
OMIM:200500 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome |
|
Lymphedema |
ORPHA:69061 |
Léri-Weill Dyschondrosteosis |
|
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... |
ORPHA:240 |
Sub-Cortical Nodular Heterotopia |
|
Abnormality of neuronal migration, Subcortical heterotopia, Agenesis of corpus callosum, Polymicr... |
ORPHA:101029 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Apathy, Anxiety, Inappropriate behavior, Memory impairment, Falls, Abnormal neuron morphology, Mo... |
ORPHA:412066 |
Edema, Familial Idiopathic, Prepubertal |
|
Edema |
OMIM:129840 |
Lymphedema-Cerebral Arteriovenous Anomaly Syndrome |
|
Lymphedema |
ORPHA:86914 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Hypoplasia of the radius, Short tibia, Pseudoarthrosis |
OMIM:156230 |
Polyhydramnios, Chronic Idiopathic |
|
Polyhydramnios |
OMIM:263610 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia |
OMIM:188740 |
Chilblain Lupus 2 |
|
Edema |
OMIM:614415 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Hypoplasi... |
OMIM:601376 |
Chudley-Mccullough Syndrome |
|
Partial agenesis of the corpus callosum, Gray matter heterotopia, Dysplastic corpus callosum, Pol... |
OMIM:604213 |
Band Heterotopia |
|
Gray matter heterotopia, Agenesis of corpus callosum, Polymicrogyria, Subcortical band heterotopia |
OMIM:600348 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Follicular h... |
OMIM:614470 |
Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
Mesomelic Dysplasia, Savarirayan Type |
|
Dislocated radial head, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foot morphology, H... |
OMIM:605274 |
Macular Dystrophy, Dominant Cystoid |
|
Cystoid macular edema, Edema |
OMIM:153880 |
Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... |
ORPHA:1986 |
Lissencephaly 1 |
|
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria |
OMIM:607432 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Absent thumb, Short femur, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... |
OMIM:612447 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion |
OMIM:618773 |
Endove Syndrome, Limb-Only Type |
|
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... |
OMIM:619217 |
Orofaciodigital Syndrome Type 10 |
|
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Microgn... |
ORPHA:2756 |
Lymphatic Malformation 3 |
|
Lymphedema |
OMIM:613480 |
Reticuloendotheliosis, X-Linked |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
Eosinophilia, Familial |
|
Leukocytosis, Eosinophilia, Myocardial eosinophilic infiltration, Anemia, Thrombocytopenia |
OMIM:131400 |
Myeloproliferative Syndrome, Transient |
|
Transient myeloproliferative syndrome, Leukocytosis |
OMIM:159595 |
Glaucoma 3, Primary Congenital, E |
|
Edema |
OMIM:617272 |
Acute Peripheral Arterial Occlusion |
|
Supraventricular tachycardia, Leukocytosis, Absent ankle pulse, Myocardial infarction, Abnormalit... |
ORPHA:90064 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Reduced systolic function |
OMIM:604765 |
Mismatch Repair Cancer Syndrome 4 |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:619101 |
White Sponge Nevus 2 |
|
Edema |
OMIM:615785 |
Maternal Hyperthermia-Induced Birth Defects |
|
Abnormality of neuronal migration, Short stature, Intrauterine growth retardation, Cognitive impa... |
ORPHA:2216 |
Polymicrogyria Due To Tubb2B Mutation |
|
Perisylvian polymicrogyria, Gray matter heterotopia, Cognitive impairment, Polymicrogyria, Latera... |
ORPHA:300573 |
Laurin-Sandrow Syndrome |
|
Hand polydactyly, Absent radius, Syndactyly, Triphalangeal thumb, Patellar aplasia, Short foot, B... |
OMIM:135750 |
Microlissencephaly |
|
Periventricular heterotopia, Polymicrogyria, Lissencephaly, Simplified gyral pattern, Pachygyria,... |
ORPHA:1083 |
Immunodeficiency 75 |
|
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... |
OMIM:619126 |
Dyschondrosteosis And Nephritis |
|
Ulnar bowing, Short tibia, Radial bowing, Short forearm |
OMIM:127350 |
Polycythemia Vera |
|
Budd-Chiari syndrome, Increased hematocrit, Leukocytosis, Splenomegaly, Cerebral hemorrhage, Cere... |
OMIM:263300 |
Tibial Hemimelia |
|
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... |
ORPHA:93322 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormality of neuronal migration, Ataxia, Attention deficit hyperactivity disorder |
OMIM:618709 |
Orofaciodigital Syndrome Viii |
|
Short tibia, Syndactyly, Polydactyly |
OMIM:300484 |
Periventricular Nodular Heterotopia 6 |
|
Periventricular nodular heterotopia, Gray matter heterotopia |
OMIM:615544 |
Symmetrical Thalamic Calcifications |
|
Abnormality of neuronal migration, Ataxia, Cognitive impairment |
ORPHA:1314 |
Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Agyria, Pachygyria, Gray matter heterotopia |
ORPHA:1084 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Overlapping toe, Talipes equinovarus, Micrognathia, Short tibia, 11 pairs of ribs, Triphalangeal ... |
OMIM:201170 |
Neutrophil Immunodeficiency Syndrome |
|
Abnormality of neutrophil physiology, Leukocytosis |
ORPHA:183707 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... |
ORPHA:3329 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Leukocytosis |
OMIM:619398 |
Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
|
Periventricular nodular heterotopia, Periventricular heterotopia |
OMIM:608097 |
Short Rib-Polydactyly Syndrome |
|
Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Short long bone, Abnormal heart morp... |
ORPHA:1505 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen... |
ORPHA:75564 |
Immunodeficiency 69 |
|
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia |
OMIM:618963 |
Choanal Atresia And Lymphedema |
|
Lymphedema, Pericardial effusion |
OMIM:613611 |
Nodular Neuronal Heterotopia |
|
Abnormality of neuronal migration |
ORPHA:2149 |
Lymphatic Malformation 9 |
|
Predominantly lower limb lymphedema |
OMIM:619319 |
Immunodeficiency 105 |
|
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Absence of lymph node germ... |
OMIM:619924 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... |
OMIM:228930 |
Lymphatic Malformation 10 |
|
Lymphedema |
OMIM:619369 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... |
ORPHA:93356 |
Weismann-Netter Syndrome |
|
Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... |
ORPHA:3344 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Talipes equinovarus, Short ribs, Hypoplasia of the radius, Short femur, Short tibia, Short humeru... |
OMIM:607143 |
Deafness, Unilateral, With Delayed Endolymphatic Hydrops |
|
Edema |
OMIM:612097 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear/anxiety-related behavior, Exaggerated startle response, Cognitive impairment, Short... |
ORPHA:309246 |
Autosomal Recessive Primary Microcephaly |
|
Gray matter heterotopia, Short stature, Growth delay, Pachygyria, Agenesis of corpus callosum |
ORPHA:2512 |
Periventricular Nodular Heterotopia 7 |
|
Periventricular nodular heterotopia, Gray matter heterotopia |
OMIM:617201 |
Blount Disease |
|
Abnormality of the knee, Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the... |
ORPHA:2768 |
Cardiomyopathy, Familial Hypertrophic 27 |
|
Tricuspid regurgitation, Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, M... |
OMIM:618052 |
Lymphedema And Cerebral Arteriovenous Anomaly |
|
Lymphedema |
OMIM:152900 |
Immunodeficiency 72 With Autoinflammation |
|
Hepatosplenomegaly, Increased B cell count, Clubbing of fingers, Lymphadenopathy, Increased propo... |
OMIM:618982 |
Acromesomelic Dysplasia 2B |
|
Short metatarsal, Talipes equinovalgus, Brachydactyly, Short phalanx of finger, Deviation of fing... |
OMIM:228900 |
Immunodeficiency 27A |
|
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Hy... |
OMIM:209950 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Lymphopenia, Hepatomegaly, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor ex... |
OMIM:602450 |
Orofaciodigital Syndrome Iv |
|
Postaxial polydactyly, Micrognathia, Short tibia, Brachydactyly, Short finger, Clinodactyly, Hand... |
OMIM:258860 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Aplasia/Hypoplasia of the ulna, Aplasia of the 3rd finger, Split foot, Short hallux, Hand monodac... |
OMIM:119100 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Abnormality of fibula morphology, Pa... |
ORPHA:988 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Hand monodactyly, Bifid femur, Split hand, Foot monodactyly, Absent tibia |
OMIM:228250 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Splenomegaly, Aplastic anemia, Vascul... |
OMIM:308240 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Lymphopenia, Follicular hyperplasia, Autoimmune thrombocytopenia, Decreased proportion of class-s... |
OMIM:619846 |
Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Dislocated radial head, Coxa vara, Flat capital femoral epiphysis, Talipes equinovarus, Short fem... |
OMIM:601560 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Lymphocytosis, Decreased mean platelet volume, Vasculitis, Thrombocytopenia, Lymphadenopathy |
OMIM:617718 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Skin-picking, Ataxia, Hyperactivity, Progressive language deterioration, Self-mutilation, Mental ... |
ORPHA:163681 |
Lymphatic Malformation 7 |
|
Pulmonary edema, Facial edema, Nonimmune hydrops fetalis, Lymphedema, Edema, Pericardial effusion |
OMIM:617300 |
Eiken Syndrome |
|
Epiphyseal dysplasia, Metaphyseal irregularity, Short toe, Delayed epiphyseal ossification, Abnor... |
ORPHA:79106 |
Hypocalcemia, Autosomal Dominant 2 |
|
Postnatal growth retardation |
OMIM:615361 |
Slc35A2-Cdg |
|
Talipes equinovarus, Short tibia, Aplasia/hypoplasia involving bones of the extremities, Camptoda... |
ORPHA:356961 |
Bilateral Striopallidodentate Calcinosis |
|
Abnormality of neuronal migration, Intrauterine growth retardation |
ORPHA:1980 |
Stuve-Wiedemann Syndrome 1 |
|
Femoral bowing, Ulnar deviation of finger, Contracture of the proximal interphalangeal joint of t... |
OMIM:601559 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Lymphopenia, Lymphocytosis, Hepatosplenomegaly, Eosinophilia, Autoimmune thrombocytopenia, T lymp... |
ORPHA:169154 |
Attrv122I Amyloidosis |
|
Angina pectoris, Cardiac amyloidosis, Aortic valve stenosis, Atrial arrhythmia, Restrictive cardi... |
ORPHA:85451 |
Coronary Arterial Fistula |
|
Angina pectoris, Systolic heart murmur, Pedal edema, Cardiomegaly, Abnormal heart morphology, Pal... |
ORPHA:2041 |
Mesomelic Dysplasia, Savarirayan Type |
|
Hypoplasia of proximal radius, Flared radial metaphysis, High iliac wing, Metatarsus valgus, Glen... |
ORPHA:85170 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Upper limb metaphyseal widening, Humerus varus, Hypoplasia of the ulna, Flared femoral metaphysis... |
ORPHA:85188 |
Microcephaly-Micromelia Syndrome |
|
Forearm undergrowth, Talipes equinovarus, Micrognathia, Short tibia, Micromelia, Oligodactyly, Hu... |
OMIM:251230 |
Chronic Myeloid Leukemia |
|
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... |
ORPHA:521 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ... |
OMIM:612840 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th finger, Talipes equinovarus, M... |
OMIM:268305 |
Schnitzler Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Vasculitis, Anemia, Lymphadenopathy |
ORPHA:37748 |
Acute Monoblastic/Monocytic Leukemia |
|
Lymphocytosis, Leukocytosis, Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopat... |
ORPHA:514 |
Hemimegalencephaly |
|
Abnormal neuron morphology, Pachygyria, Gray matter heterotopia, Polymicrogyria |
ORPHA:99802 |
Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular bigeminy, Left ventricular noncompaction, Ventri... |
OMIM:616249 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormal cardiac septum morphology, Clinodactyly of the 5th finge... |
ORPHA:3320 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of naive T cells, Hepatomegaly, Lymphopenia, Abnormally low T cell receptor ... |
ORPHA:276 |
Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Angina pectori... |
ORPHA:3092 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephaly, Intrauterine grow... |
ORPHA:89844 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy |
ORPHA:66661 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Dislocated radial head, Epiphyseal dysplasia, Fragmented epiphyses, Delayed epiphyseal ossificati... |
ORPHA:166016 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Short stature, Depression, Anxiety, Gait disturbance, Tremor, Abnormality of neuronal migration |
OMIM:300957 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Polyhydramnios, Lymphedema, Facial edema, Edema |
OMIM:618154 |
Microphthalmia With Limb Anomalies |
|
Sandal gap, Bowing of the long bones, Short long bone, Clinodactyly of the 5th finger, Talipes eq... |
ORPHA:1106 |
Laurin-Sandrow Syndrome |
|
Preaxial foot polydactyly, Absent tibia, Absent radius, Preaxial hand polydactyly, Limb duplicati... |
ORPHA:2378 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Postnatal growth retardation, Intrauterine growth retardation |
OMIM:600546 |
Acute Myelomonocytic Leukemia |
|
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis |
ORPHA:517 |
Atrial Fibrillation, Familial, 10 |
|
Permanent atrial fibrillation, Tricuspid regurgitation, Left ventricular hypertrophy, Atrial flut... |
OMIM:614022 |
Growth Hormone Deficiency, Isolated Partial |
|
Postnatal growth retardation, Short stature |
OMIM:615925 |
Orofaciodigital Syndrome Ix |
|
Hand polydactyly, Short tibia, Camptodactyly, Toe syndactyly |
OMIM:258865 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplasia of the radius, Hypoplasia of the ulna, Talipes equinovarus, Aplasia/Hypoplasia of the ... |
OMIM:609945 |
Atelosteogenesis Type Iii |
|
Talipes equinovarus, Hand clenching, Absent humerus, Knee dislocation, Micrognathia, Distal taper... |
ORPHA:56305 |
Lissencephaly 6 With Microcephaly |
|
Periventricular heterotopia, Polymicrogyria, Partial agenesis of the corpus callosum, Lissencepha... |
OMIM:616212 |
Kimura Disease |
|
Eosinophilia, Follicular hyperplasia, Lymphadenopathy |
ORPHA:482 |
Pseudo-Torch Syndrome 3 |
|
Cerebral hemorrhage, Leukocytosis, Lymphadenitis, Congenital thrombocytopenia, Hypertension, Anem... |
OMIM:618886 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... |
OMIM:616117 |
Juvenile Temporal Arteritis |
|
Eosinophilia, Leukocytosis |
ORPHA:26137 |
Ulnar/Fibular Ray Defect And Brachydactyly |
|
Atrial septal defect, Bilateral talipes equinovarus, Brachydactyly, Postaxial oligodactyly, Lower... |
OMIM:608571 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphocytosis, Abnormality of the lymph nodes, Eosinophilia, Hepatosplenomegaly, Autoimmune throm... |
ORPHA:911 |
Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Edema |
OMIM:610158 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Dysplastic corpus callosum, Periventricular nodular heterotopia, Memory impairment, Tremor, Intra... |
OMIM:619737 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Acetabular spurs, Absent tibia, Talipes equinovarus, Metaphyseal spurs, Short ribs, Postaxial pol... |
OMIM:613091 |
Acheiropodia |
|
Aplasia of the ulna, Absent hand, Upper limb phocomelia, Short humerus, Abnormal epiphysis morpho... |
ORPHA:931 |
Metaphyseal Acroscyphodysplasia |
|
Cone-shaped metacarpal epiphyses, Cone-shaped epiphyses of the phalanges of the hand, Short toe, ... |
OMIM:250215 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Mesomelic arm shortening, Short humerus, Shoulder dislocation, G... |
OMIM:171480 |
Tularemia |
|
Leukocytosis, Abnormal nasopharyngeal adenoid morphology, Anemia, Cervical lymphadenopathy, Tachy... |
ORPHA:3392 |
Acute Panmyelosis With Myelofibrosis |
|
Lymphocytosis, Acute myelomonocytic leukemia, Splenomegaly, Pancytopenia, Bone marrow hypocellula... |
ORPHA:86843 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Right atrial enlargement, Atrioventricular block, Hepatomegaly, Myofiber disarray, Left bundle br... |
OMIM:115197 |
Isolated Right Ventricular Hypoplasia |
|
Right atrial enlargement, Congestive heart failure, Atrial septal defect, Tricuspid regurgitation... |
ORPHA:439 |
Diffuse Cutaneous Mastocytosis |
|
Hepatomegaly, Lymphocytosis, Myeloproliferative disorder, Abnormality of the spleen, Hypotension,... |
ORPHA:79456 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Abnormal morphology of ulna, Micromelia, Synostosis of carpal bones, Abnormality of tibia morphol... |
ORPHA:2634 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Intracranial hemorrhage, A... |
ORPHA:3226 |
Yellow Nail Syndrome |
|
Predominantly lower limb lymphedema, Lymphedema |
OMIM:153300 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Pachygyria, Gray matter heterotopia, Difficulty walking, Tip-toe gait |
ORPHA:370980 |
Cinca Syndrome |
|
Patellar overgrowth, Leukocytosis, Eosinophilia, Hepatosplenomegaly, Anemia, Lymphadenopathy |
OMIM:607115 |
Subependymal Nodular Heterotopia |
|
Partial agenesis of the corpus callosum, Gray matter heterotopia, Abnormality of neuronal migrati... |
ORPHA:101030 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the radius, Micrognathia, Short 5th finger, Hypoplasia of the ulna, Talipes, Radial... |
OMIM:227270 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Periventricular heterotopia, Impulsivity, Self-injurious behavior, Anxiety, Attention deficit hyp... |
OMIM:618929 |
Omodysplasia 1 |
|
Atrial septal defect, Limited knee flexion/extension, Increased fibular diameter, Micrognathia, L... |
OMIM:258315 |
Ivic Syndrome |
|
Leukocytosis, Hypoplasia of the radius, Preaxial hand polydactyly, Synostosis of carpal bones, Ar... |
ORPHA:2307 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Atrial septal defect, Tricuspid regurgitation, Short ribs, Brachydactyly, Postaxial polysyndactyl... |
OMIM:263520 |
Acquired Partial Lipodystrophy |
|
Lymphocytosis |
ORPHA:79087 |
Femoral-Facial Syndrome |
|
Coxa vara, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Short femur, Micrognathia, Radio... |
ORPHA:1988 |
Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Short toe, Talipes equinovarus, Bilateral talipes equinovarus, Short 1st metac... |
OMIM:609441 |
Ivic Syndrome |
|
Carpal synostosis, Short clavicles, Leukocytosis, Limited interphalangeal movement, Absent thumb,... |
OMIM:147750 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Cardiac shunt, Anomalous p... |
ORPHA:860 |
Omenn Syndrome |
|
Short toe, Hepatomegaly, Leukocytosis, Splenomegaly, Eosinophilia, Abnormal lymphocyte morphology... |
ORPHA:39041 |
Purine Nucleoside Phosphorylase Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegaly, Cerebral vasculi... |
OMIM:613179 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Lymphadenopathy, Leukocytosis, Splenomegaly |
OMIM:611762 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Flexion contracture of thumb, Hepatomegaly, Absent glenoid fossa, Clinodactyly of the 3rd finger,... |
ORPHA:96334 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets of the lower limbs, Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossificat... |
OMIM:600785 |
Timothy Syndrome |
|
Cutaneous syndactyly, Syndactyly, Tetralogy of Fallot, Ventricular septal defect, Patent foramen ... |
OMIM:601005 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Tibial bowing, Radial bowing, Splenomegaly, Micrognathia, Abnormality of fibula morphology, Abnor... |
ORPHA:3035 |
Unclassified Myelodysplastic Syndrome |
|
Bone marrow hypocellularity, Acute myeloid leukemia, Leukocytosis |
ORPHA:98827 |
Primary Myelofibrosis |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Throm... |
ORPHA:824 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Split foot, Aplasia/Hypoplasia of the fibula, Brachydactyly, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
Aggressive Systemic Mastocytosis |
|
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Hypotension, Thromb... |
ORPHA:98850 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... |
OMIM:602111 |
Familial Atrial Myxoma |
|
Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation, Heart murmur, Pulmonic... |
ORPHA:615 |
Naxos Disease |
|
Prolonged QRS complex, Congestive heart failure, Premature ventricular contraction, Right ventric... |
OMIM:601214 |
Lymphangiectasia, Pulmonary, Congenital |
|
Facial edema, Chylothorax, Chylous ascites, Palpebral edema, Nonimmune hydrops fetalis, Polyhydra... |
OMIM:265300 |
X-Linked Lymphoproliferative Disease |
|
Hemophagocytosis, Cervical lymphadenopathy, Aplastic anemia, Myocarditis, B lymphocytopenia, Incr... |
ORPHA:2442 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Periventricular heterotopia, Ataxia, Pachygyria, Intrauterine growth retardation, Agenesis of cor... |
ORPHA:255138 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Talipes equinovarus, Bilateral talipes equinovarus, Mirror image foot polydactyly, Patellar hypop... |
OMIM:119800 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Abnormal mast cell morphology, Hepatomegaly, Neutrophilia, Splenomegaly, Leukocytosis, Myeloproli... |
ORPHA:98849 |
Stiff Person Spectrum Disorder |
|
Agoraphobia, Exaggerated startle response, Anxiety, Falls, Difficulty walking, Emotional lability |
ORPHA:3198 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Narrow greater sciatic notch, Short ribs, Postaxial polydactyly, Micrognathia, Preaxial polydacty... |
OMIM:617925 |
Orofaciodigital Syndrome Type 2 |
|
Mesomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Broad first metatar... |
ORPHA:2751 |
Tropical Endomyocardial Fibrosis |
|
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Decreased QRS voltage, Pedal ... |
ORPHA:75565 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Intrauterine growth retardation, Periventricular heterotopia, Ataxia, Self-injurious behavior, Sh... |
OMIM:619833 |
Immunodeficiency 92 |
|
Hepatomegaly, Lymphocytosis, Leukocytosis, B lymphocytopenia, Thrombocytosis, Decreased proportio... |
OMIM:619652 |
Oculocerebrocutaneous Syndrome |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:164180 |
Attrv30M Amyloidosis |
|
Atrioventricular block, Arrhythmia, Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
Complete Atrioventricular Septal Defect |
|
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Elevated pulmonary artery pre... |
ORPHA:1329 |
Familial Short Qt Syndrome |
|
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... |
ORPHA:51083 |
Radio-Tartaglia Syndrome |
|
Gait imbalance, Ataxia, Gray matter heterotopia, Impulsivity, Tremor, Attention deficit hyperacti... |
OMIM:619312 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Abnormality of neuronal migration, Pachygyria, Short stature |
OMIM:608840 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Type II lissencephaly, Gray matter heterotopia, Dysgyria |
ORPHA:352682 |
Thrombocytopenia-Absent Radius Syndrome |
|
Absent thumb, Atrioventricular canal defect, Hypoplasia of the radius, Femoral bowing, Ventricula... |
OMIM:274000 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Mental deterioration, Periventricular heterotopia, Agenesis of corpus callosum, Ataxia |
OMIM:618476 |
Dysplastic Cortical Hyperostosis |
|
Abnormality of neuronal migration, Short stature |
ORPHA:2204 |
Danon Disease |
|
Myocardial fibrosis, Wolff-Parkinson-White syndrome, Myocardial necrosis, Pes cavus, Arrhythmia, ... |
OMIM:300257 |
Cirrhotic Cardiomyopathy |
|
Fourth heart sound, Right atrial enlargement, Hepatomegaly, Left ventricular hypertrophy, Left ve... |
ORPHA:57777 |
Refractory Anemia With Excess Blasts |
|
Anemia of inadequate production, Leukocytosis, Palpitations, Abnormal mean corpuscular volume, Re... |
ORPHA:86839 |
Tay-Sachs Disease |
|
Apathy, Psychomotor deterioration, Exaggerated startle response, Dementia |
OMIM:272800 |
Chiari Malformation Type Ii |
|
Ataxia, Gray matter heterotopia, Agenesis of corpus callosum, Opisthotonus |
OMIM:207950 |
Ulna And Fibula, Hypoplasia Of |
|
Hypoplasia of the ulna, Fibular hypoplasia |
OMIM:191400 |
Brain Small Vessel Disease 2 |
|
Growth delay, Subcortical heterotopia, Polymicrogyria |
OMIM:614483 |
3-Hydroxyisobutyric Aciduria |
|
Abnormality of neuronal migration |
OMIM:236795 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Cerebral Palsy, Spastic Quadriplegic, 3 |
|
Gray matter heterotopia, Cognitive impairment |
OMIM:617008 |
Sickle Cell Anemia |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Hemolytic anemia, Target cells, Hypertension, Cardiomeg... |
OMIM:603903 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Ulnar deviated club hands, Mesomelia,... |
OMIM:164900 |
Desmosterolosis |
|
Severe short stature, Macrogyria, Abnormal cortical gyration, Polymicrogyria, Lissencephaly, Abno... |
ORPHA:35107 |
Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
Adult-Onset Still Disease |
|
Hepatomegaly, Neutrophilia, Leukocytosis, Splenomegaly, Myocarditis, Generalized lymphadenopathy,... |
ORPHA:829 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Cervical lymphadenopathy, Ventricular septal defect, Facial telangiectasia, Rocker ... |
OMIM:602782 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Simplified gyral pattern, Gray matter heterotopia, Colpocephaly, Lissencephaly |
OMIM:615219 |
Fragile X Syndrome |
|
Periventricular heterotopia, Hyperactivity, Self-biting |
OMIM:300624 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Lymphocytosis, Eosinophilia, Myocarditis, Lymphadenopathy, Cardiac arrest |
ORPHA:139402 |
Walker-Warburg Syndrome |
|
Macrogyria, Abnormal cortical gyration, Polymicrogyria, Lissencephaly, Abnormality of neuronal mi... |
ORPHA:899 |
Acromelic Frontonasal Dysostosis |
|
Periventricular nodular heterotopia, Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:603671 |
Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Abnormality of neuronal migration, Disproportionate short-limb short stature, Intrauterine growth... |
ORPHA:2772 |
Thanatophoric Dysplasia Type 2 |
|
Abnormality of neuronal migration, Short stature, Cognitive impairment |
ORPHA:93274 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Right atrial enlargement, Atrioventricular block, Hepatomegaly, Complete heart block with narrow ... |
ORPHA:1677 |
Lissencephaly 5 |
|
Type II lissencephaly, Gray matter heterotopia, Subcortical band heterotopia |
OMIM:615191 |
Microphthalmia With Limb Anomalies |
|
Tibial bowing, Talipes equinovarus, Hand oligodactyly, Camptodactyly of 2nd-5th fingers, Postaxia... |
OMIM:206920 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Mobitz I atrioventricular block, Heart murmur, Ventricular septal defect, Sick sinus syndrome, Ab... |
ORPHA:216694 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Leukocytosis, Splenomegaly |
OMIM:618042 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Cerebral hemorrhage, Leukocytosis, ST segment depression, Left ventricular hypertrophy, Cerebral ... |
ORPHA:90065 |
Osteofibrous Dysplasia, Susceptibility To |
|
Fibular hypoplasia, Pseudoarthrosis |
OMIM:607278 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Type II lissencephaly, Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:615287 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Abnormality of neuronal migration |
OMIM:614887 |
Autoimmune Lymphoproliferative Syndrome |
|
Abnormal proportion of CD8-positive T cells, Hepatomegaly, Lymphopenia, Coombs-positive hemolytic... |
ORPHA:3261 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Splenomegaly, Heinz bodies, Anisocytosis, Poikilocytosis, Fava bean-induced hemolyt... |
OMIM:300908 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Long hallux, Delayed tarsal ossification, Delayed ossification o... |
OMIM:600002 |
16P13.11 Microdeletion Syndrome |
|
Abnormality of neuronal migration, Self-injurious behavior, Agenesis of corpus callosum, Short st... |
ORPHA:261236 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Gray matter heterotopia, Polymicrogyria, Partial agenesis of the corpus callosum, Agyria, Type II... |
OMIM:614643 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... |
OMIM:608203 |
Tetrasomy 18P |
|
Abnormality of neuronal migration, Gait disturbance |
ORPHA:3307 |
Gaucher Disease, Type Iiic |
|
Mitral stenosis, Aortic valve calcification, Hepatomegaly, Splenomegaly, Pes cavus, Mitral valve ... |
OMIM:231005 |
Gm2-Gangliosidosis, Ab Variant |
|
Dystonia, Apathy, Exaggerated startle response, Dementia |
OMIM:272750 |
Cerebrofacioarticular Syndrome |
|
Ataxia, Gray matter heterotopia, Dysplastic corpus callosum, Self-injurious behavior, Short statu... |
ORPHA:314679 |
Hydrolethalus Syndrome 1 |
|
Talipes equinovarus, Micrognathia, Accessory spleen, Proximal tibial hypoplasia, Upper limb under... |
OMIM:236680 |
Atelosteogenesis, Type I |
|
Aplasia/Hypoplasia of the ulna, 11 pairs of ribs, Rhizomelia, Clubbing, Multinucleated giant chon... |
OMIM:108720 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Leukocytosis, Vasculitis, Increased proportion of CD4-positive T cells, Lymphadenop... |
OMIM:617099 |
Orofaciodigital Syndrome Type 6 |
|
Ataxia, Short stature, Hypothalamic hamartoma, Gait disturbance, Tremor, Abnormality of neuronal ... |
ORPHA:2754 |
Lymphatic Malformation 6 |
|
Facial edema, Chylothorax, Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, ... |
OMIM:616843 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Type II lissencephaly, Gray matter heterotopia, Agenesis of corpus callosum, Polymicrogyria |
ORPHA:370959 |
Otopalatodigital Syndrome, Type Ii |
|
Radial deviation of the 2nd finger, Femoral bowing, Congenital hip dislocation, Rudimentary fibul... |
OMIM:304120 |
Systemic Capillary Leak Syndrome |
|
Leukocytosis, Arrhythmia, Myocarditis, Hypotension, Pedal edema, Pericarditis |
ORPHA:188 |
Vici Syndrome |
|
Gray matter heterotopia, Agenesis of corpus callosum, Short stature |
ORPHA:1493 |
Periventricular Nodular Heterotopia 1 |
|
Abnormality of neuronal migration, Gray matter heterotopia |
OMIM:300049 |
Galloway-Mowat Syndrome |
|
Short stature, Cognitive impairment, Abnormality of neuronal migration, Pachygyria, Intrauterine ... |
ORPHA:2065 |
Acalvaria |
|
Abnormality of neuronal migration |
ORPHA:945 |
Fibrochondrogenesis 1 |
|
Short palm, Clinodactyly of the 5th finger, Narrow greater sciatic notch, Short ribs, Small hand,... |
OMIM:228520 |
Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Lymphocytosis, Vasculitis in the skin, Splenomegaly, Cervical lymphadenopathy, Abno... |
ORPHA:50918 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Blepharospasm, Exaggerated startle response, Oculogyric crisis, Athetosis, Choreoath... |
OMIM:608643 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Polymicrogyria, Type II lissencephaly, Agyria, Lissencephaly, Pachy... |
OMIM:253800 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Periventricular heterotopia, Attention deficit hyperactivity disorder |
OMIM:618974 |
Wolcott-Rallison Syndrome |
|
Double outlet right ventricle, Metaphyseal dysplasia, Hepatomegaly, Lymphocytosis, Atrial septal ... |
ORPHA:1667 |
Necrotizing Enterocolitis |
|
Leukocytosis, Hypotension, Shock, Bradycardia, Neutropenia, Thrombocytopenia, Abnormal heart morp... |
ORPHA:391673 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Congestive heart failure, Hypotension, Shortened PR interval, Biventricular hypertrophy, Cardiomy... |
OMIM:261740 |
Acrofacial Dysostosis, Rodríguez Type |
|
Aplasia/Hypoplasia of the ulna, Microretrognathia, Talipes equinovarus, Hand oligodactyly, Radiou... |
ORPHA:1788 |
Neonatal Adrenoleukodystrophy |
|
Abnormality of neuronal migration, Short stature |
ORPHA:44 |
Brachymesomelia-Renal Syndrome |
|
Hypoplasia of the radius, Micrognathia, Mesomelic arm shortening, Fibular hypoplasia, Ulnar bowing |
OMIM:113470 |
Leber Congenital Amaurosis |
|
Abnormality of neuronal migration |
ORPHA:65 |
Congenital Disorder Of Deglycosylation 2 |
|
Partial agenesis of the corpus callosum, Gray matter heterotopia, Polymicrogyria, Hypothalamic ha... |
OMIM:619775 |
Tay-Sachs Disease |
|
Inability to walk, Laryngeal dystonia, Exaggerated startle response, Dysmetria, Depression, Anxie... |
ORPHA:845 |
Acro-Renal-Mandibular Syndrome |
|
Split foot, Hypoplasia of the radius, Micrognathia, Rudimentary fibula, Rudimentary to absent tib... |
ORPHA:958 |
Joubert Syndrome |
|
Ataxia, Polymicrogyria, Gait disturbance, Tremor, Abnormality of neuronal migration |
ORPHA:475 |
Stiff-Person Syndrome |
|
Agoraphobia, Exaggerated startle response, Opisthotonus, Depression, Anxiety |
OMIM:184850 |
Orofaciodigital Syndrome X |
|
Preaxial hand polydactyly, Coalescence of tarsal bones, Fibular aplasia, Hand oligodactyly |
OMIM:165590 |
Beta-Thalassemia Intermedia |
|
Anemia of inadequate production, Decreased mean corpuscular volume, High-output congestive heart ... |
ORPHA:231222 |
Hypomelanosis Of Ito |
|
Gray matter heterotopia |
OMIM:300337 |
Thanatophoric Dysplasia |
|
Disproportionate short-limb short stature, Gray matter heterotopia, Intrauterine growth retardation |
ORPHA:2655 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... |
ORPHA:555874 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormality of neuronal migration, Cognitive impairment |
ORPHA:2063 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Gray matter heterotopia |
OMIM:619694 |
Agammaglobulinemia, X-Linked |
|
Cor pulmonale, B lymphocytopenia, T lymphocytopenia, Neutropenia, Lymph node hypoplasia, Anemia |
OMIM:300755 |
Occipital Horn Syndrome |
|
Coxa vara, Large iliac wing, Coxa valga, Aplasia/hypoplasia of the humerus, Abnormality of the pu... |
ORPHA:198 |
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies |
|
Radial bowing, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Postaxial foot polydactyly, ... |
OMIM:601027 |
Meige Disease |
|
Lymph node hypoplasia, Pedal edema, Absence of lymph node germinal center |
ORPHA:90186 |
Kyphomelic Dysplasia |
|
Tibial bowing, Radial bowing, Talipes equinovarus, Short femur, Femoral bowing, Micrognathia, Sho... |
OMIM:211350 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Abnormality of neuronal migration, Pachygyria, Agenesis of corpus callosum, Polymicrogyria |
ORPHA:157 |
Aorta Coarctation |
|
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Hyperte... |
ORPHA:1457 |
9Q21.13 Microdeletion Syndrome |
|
Postnatal growth retardation, Difficulty walking, Gray matter heterotopia |
ORPHA:531151 |
Edinburgh Malformation Syndrome |
|
Abnormality of neuronal migration |
ORPHA:1895 |
Man1B1-Cdg |
|
Broad-based gait, Periventricular heterotopia, Resting tremor |
ORPHA:397941 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Abnormality of neuronal migration, Intrauterine growth retardation, Short stature |
ORPHA:2518 |
Neu-Laxova Syndrome |
|
Opisthotonus, Polymicrogyria, Abnormal cortical gyration, Lissencephaly, Abnormality of neuronal ... |
ORPHA:2671 |
3C Syndrome |
|
Abnormality of neuronal migration, Postnatal growth retardation, Short stature |
ORPHA:7 |
Coffin-Lowry Syndrome |
|
Abnormality of neuronal migration, Gait disturbance, Self-injurious behavior, Short stature |
ORPHA:192 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Broad-based gait, Ataxia, Exaggerated startle response, Anxiety, Dystonia |
ORPHA:438216 |
Phocomelia, Schinzel Type |
|
Aplasia of the ulna, Ectrodactyly, Radial bowing, Hand oligodactyly, Hypoplasia of the radius, Mi... |
ORPHA:2879 |
6Q Terminal Deletion Syndrome |
|
Periventricular heterotopia, Gray matter heterotopia, Dysmetria, Polymicrogyria, Gait ataxia, Abn... |
ORPHA:75857 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Abnormality of neuronal migration, Agenesis of corpus callosum, Polymicrogyria |
OMIM:608836 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Short ribs, Pulmona... |
OMIM:208500 |
Bohring-Opitz Syndrome |
|
Gray matter heterotopia, Short stature, Mesomelic/rhizomelic limb shortening, Intrauterine growth... |
OMIM:605039 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Atrioventricular canal defect, Congenital hip dislocation, Enlarged kidney, Ventric... |
OMIM:306955 |
Acrorenal-Mandibular Syndrome |
|
Split foot, Hypoplasia of the radius, Micrognathia, Hand polydactyly, Rudimentary fibula, Rudimen... |
OMIM:200980 |
Absence Of The Pulmonary Artery |
|
Abnormal cardiac septum morphology, Congestive heart failure, Atrial septal defect, Systolic hear... |
ORPHA:980 |
Koolen-De Vries Syndrome |
|
Conspicuously happy disposition, Gray matter heterotopia, Impulsivity, Hyperactivity, Short statu... |
OMIM:610443 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Abnormality of neuronal migration, Pachygyria, Agenesis of corpus callosum, Polymicrogyria |
ORPHA:228308 |
Campomelic Dysplasia |
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Small abnormally formed scapulae, Tibial bowing, Talipes equinovarus, Femoral bowing, Micrognathi... |
ORPHA:140 |
Thanatophoric Dysplasia, Type I |
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Disproportionate short-limb short stature, Gray matter heterotopia, Neonatal death, Lethal short-... |
OMIM:187600 |
Poretti-Boltshauser Syndrome |
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Gray matter heterotopia |
OMIM:615960 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
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Periventricular heterotopia, Self-injurious behavior, Severe short stature, Polymicrogyria, Lisse... |
ORPHA:468631 |
Joubert Syndrome 30 |
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Gray matter heterotopia |
OMIM:617622 |
Onychotrichodysplasia And Neutropenia |
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Chronic neutropenia, Lymphocytosis, Neutropenia |
OMIM:258360 |
Crimean-Congo Hemorrhagic Fever |
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Melena, Hepatomegaly, Neutrophilia, Hemoperitoneum, Subdural hemorrhage, Hemothorax, Myocarditis,... |
ORPHA:99827 |
Alg11-Cdg |
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Ataxia, Gray matter heterotopia, Opisthotonus |
ORPHA:280071 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
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Abnormal cortical gyration, Polymicrogyria, Lissencephaly, Abnormality of neuronal migration, Pac... |
ORPHA:2211 |
Acromelic Frontonasal Dysplasia |
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Patellar hypoplasia, Preaxial foot polydactyly, Talipes equinovarus, Aplasia/Hypoplasia of the tibia |
ORPHA:1827 |
Campomelic Dysplasia |
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Femoral bowing, Short 1st metacarpal, 11 pairs of ribs, Bowing of the long bones, Anterior tibial... |
OMIM:114290 |
Van Maldergem Syndrome 1 |
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Growth delay, Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band hete... |
OMIM:601390 |
Neuromuscular Oculoauditory Syndrome |
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Periventricular heterotopia, Agenesis of corpus callosum, Unsteady gait |
OMIM:618733 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
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Periventricular heterotopia, Attention deficit hyperactivity disorder, Short stature |
OMIM:618870 |
Truncus Arteriosus |
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Abnormal heart valve physiology, Atrial septal defect, Right ventricular hypertrophy, Pulmonic st... |
ORPHA:3384 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
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Gray matter heterotopia, Short stature, Neonatal death, Frontal polymicrogyria, Pachygyria, Dystonia |
OMIM:620024 |
Charge Syndrome |
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Double outlet right ventricle, Absent tibia, Secundum atrial septal defect, Atrial septal defect,... |
OMIM:214800 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
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Anxiety, Birth length less than 3rd percentile, Gait disturbance, Attention deficit hyperactivity... |
ORPHA:464311 |
Schneckenbecken Dysplasia |
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Hypoplastic vertebral bodies, Short ribs, Increased fibular diameter, Hypoplastic ilia, Micromeli... |
ORPHA:3144 |
Vici Syndrome |
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Growth delay, Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:242840 |
Opitz-Kaveggia Syndrome |
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Partial agenesis of the corpus callosum, Gray matter heterotopia, Attention deficit hyperactivity... |
OMIM:305450 |
Joubert Syndrome With Oculorenal Defect |
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Abnormality of neuronal migration, Ataxia |
ORPHA:2318 |
Orofaciodigital Syndrome Xvi |
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Ataxia, Gray matter heterotopia, Inability to walk |
OMIM:617563 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Hypoplasia of the radius, Femoral bowing, Aplasia/Hypoplasia of the phalanges of the hand, Carpal... |
OMIM:276820 |
Joubert Syndrome With Hepatic Defect |
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Abnormality of neuronal migration, Tremor, Ataxia, Gait disturbance |
ORPHA:1454 |
Sandhoff Disease |
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Ataxia, Exaggerated startle response, Progressive psychomotor deterioration |
OMIM:268800 |
Pyomyositis |
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Sudden cardiac death, Leukocytosis, Recurrent cutaneous abscess formation |
ORPHA:764 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
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Fatigable weakness of neck muscles, Gray matter heterotopia, Inability to walk |
ORPHA:26791 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Exaggerated startle response, Short stature |
OMIM:618367 |
16Q24.3 Microdeletion Syndrome |
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Periventricular heterotopia, Colpocephaly |
ORPHA:261250 |
Aicardi Syndrome |
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Gray matter heterotopia, Polymicrogyria, Partial agenesis of the corpus callosum, Postnatal growt... |
OMIM:304050 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
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Lymphocytosis, Iron deficiency anemia, Thrombocytosis, Perianal abscess, Reduced natural killer c... |
OMIM:301074 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
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Inability to walk, Exaggerated startle response |
OMIM:609541 |
Genitourinary And/Or Brain Malformation Syndrome |
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Gray matter heterotopia, Dysplastic corpus callosum, Polymicrogyria, Attention deficit hyperactiv... |
OMIM:618820 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
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Exaggerated startle response, Abnormal cortical gyration, Cognitive impairment |
OMIM:617527 |
Asparagine Synthetase Deficiency |
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Simplified gyral pattern, Exaggerated startle response |
OMIM:615574 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
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Ataxia, Exaggerated startle response |
OMIM:618598 |
Alkuraya-Kucinskas Syndrome |
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Gray matter heterotopia, Lissencephaly |
OMIM:617822 |
Periventricular Nodular Heterotopia |
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Periventricular heterotopia |
ORPHA:98892 |
Van Maldergem Syndrome 2 |
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Periventricular nodular heterotopia, Gray matter heterotopia, Growth delay, Subcortical band hete... |
OMIM:615546 |
Nijmegen Breakage Syndrome |
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Mental deterioration, Attention deficit hyperactivity disorder, Abnormality of neuronal migration... |
ORPHA:647 |
Thanatophoric Dysplasia Type 1 |
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Gray matter heterotopia, Lethal short-limbed short stature |
ORPHA:1860 |
Kawasaki Disease |
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Leukocytosis, Double outlet right ventricle with subpulmonary ventricular septal defect without p... |
ORPHA:2331 |
Neurocutaneous Melanocytosis |
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Abnormality of neuronal migration |
ORPHA:2481 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
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Difficulty walking, Exaggerated startle response |
ORPHA:320406 |
Orofaciodigital Syndrome I |
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Gray matter heterotopia, Short stature, Hypothalamic hamartoma, Abnormal cortical gyration, Agene... |
OMIM:311200 |
Miller-Dieker Lissencephaly Syndrome |
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Gray matter heterotopia, Agyria, Lissencephaly, Pachygyria, Intrauterine growth retardation |
OMIM:247200 |
Pseudo-Torch Syndrome 2 |
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Gray matter heterotopia, Polymicrogyria |
OMIM:617397 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
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Unsteady gait, Loss of ambulation, Gray matter heterotopia, Polymicrogyria |
OMIM:214100 |
Developmental And Epileptic Encephalopathy 8 |
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Exaggerated startle response |
OMIM:300607 |
Periventricular Nodular Heterotopia 9 |
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Broad-based gait, Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria, A... |
OMIM:618918 |
Mismatch Repair Cancer Syndrome 1 |
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Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:276300 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Stillbirth, Gray matter heterotopia, Disproportionate short stature, Pachygyria, Intrauterine gro... |
OMIM:210710 |
Hyperekplexia 3 |
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Exaggerated startle response |
OMIM:614618 |
Cranioectodermal Dysplasia 1 |
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Short distal phalanx of finger, Bicuspid aortic valve, Short toe, Hepatomegaly, Short ribs, Short... |
OMIM:218330 |
Holoprosencephaly |
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Abnormality of neuronal migration, Dystonia, Cognitive impairment |
ORPHA:2162 |
Hyperekplexia-Epilepsy Syndrome |
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Exaggerated startle response |
ORPHA:163985 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
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Gray matter heterotopia |
OMIM:618797 |
Liver Disease, Severe Congenital |
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Abnormal left ventricular function, Hepatomegaly, Atrial septal defect, Lymphocytosis, Splenomega... |
OMIM:619991 |
Bilateral Perisylvian Polymicrogyria |
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Bilateral perisylvian polymicrogyria, Dysmetria, Abnormality of neuronal migration, Perisylvian p... |
ORPHA:98889 |
Camptodactyly Syndrome, Guadalajara, Type I |
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Absent ethmoidal sinuses, Short metatarsal, Camptodactyly of 2nd-5th fingers, Brachydactyly, Shor... |
OMIM:211910 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
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Growth delay, Gray matter heterotopia, Inability to walk, Agenesis of corpus callosum |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
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Growth delay, Gray matter heterotopia, Inability to walk, Agenesis of corpus callosum |
ORPHA:352665 |
Osteopathia Striata With Cranial Sclerosis |
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Clinodactyly of the 5th finger, Atrial septal defect, Talipes equinovarus, Paranasal sinus hypopl... |
OMIM:300373 |
Holoprosencephaly 14 |
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Partial agenesis of the corpus callosum, Periventricular heterotopia, Gray matter heterotopia |
OMIM:619895 |
Developmental And Epileptic Encephalopathy 68 |
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Exaggerated startle response |
OMIM:618201 |
Plaa-Associated Neurodevelopmental Disorder |
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Dystonia, Exaggerated startle response, Abnormal cortical gyration |
ORPHA:521426 |
Orofaciodigital Syndrome Type 4 |
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Aplasia/Hypoplasia of the tibia, Finger syndactyly, Micrognathia, Preaxial hand polydactyly, Camp... |
ORPHA:2753 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
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Gray matter heterotopia |
OMIM:608624 |
Smith-Lemli-Opitz Syndrome |
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Intrauterine growth retardation, Periventricular heterotopia, Hyperactivity, Self-mutilation, Sho... |
OMIM:270400 |
Hyperekplexia 2 |
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Exaggerated startle response |
OMIM:614619 |
Hyperekplexia 1 |
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Exaggerated startle response |
OMIM:149400 |
Congenital Total Pulmonary Venous Return Anomaly |
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Hepatomegaly, Supracardiac total anomalous pulmonary venous connection, Ventricular septal defect... |
ORPHA:99125 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
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Gray matter heterotopia, Intrauterine growth retardation |
ORPHA:453499 |
Gm1 Gangliosidosis Type 1 |
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Intrauterine growth retardation, Exaggerated startle response |
ORPHA:79255 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Hypoplasia of proximal radius, Small hand, Micrognathia, Brachydactyly, Ventricular septal defect... |
ORPHA:444077 |
Glycine Encephalopathy With Normal Serum Glycine |
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Exaggerated startle response |
OMIM:617301 |
Ventriculomegaly With Cystic Kidney Disease |
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Gray matter heterotopia |
OMIM:219730 |
Arima Syndrome |
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Ataxia, Gray matter heterotopia |
OMIM:243910 |
Fontaine Progeroid Syndrome |
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Periventricular heterotopia, Gray matter heterotopia, Short stature, Neonatal death, Intrauterine... |
OMIM:612289 |
Pagod Syndrome |
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Abnormality of neuronal migration, Short stature |
ORPHA:991 |
Genitopatellar Syndrome |
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Periventricular heterotopia, Colpocephaly, Agenesis of corpus callosum |
OMIM:606170 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Exaggerated startle response, Short stature, Attention deficit hyperactivity disorder, Growth del... |
OMIM:619522 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
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Abnormality of neuronal migration |
ORPHA:3186 |
Orofaciodigital Syndrome Type 14 |
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Partial agenesis of the corpus callosum, Periventricular heterotopia |
ORPHA:434179 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Broad-based gait, Inability to walk, Exaggerated startle response, Short stature, Dystonia |
ORPHA:438213 |
Mowat-Wilson Syndrome |
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Broad-based gait, Happy demeanor, Periventricular heterotopia, Ataxia, Inability to walk, Short s... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Broad-based gait, Happy demeanor, Periventricular heterotopia, Inability to walk, Short stature, ... |
ORPHA:261537 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Broad-based gait, Happy demeanor, Periventricular heterotopia, Inability to walk, Short stature, ... |
ORPHA:261552 |
Orofaciodigital Syndrome Xiv |
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Simplified gyral pattern, Periventricular heterotopia, Polymicrogyria |
OMIM:615948 |
Proteus Syndrome |
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Gray matter heterotopia |
ORPHA:744 |