Lipedema |
|
Edema |
OMIM:614103 |
Angioedema, Hereditary, 6 |
|
Facial edema, Angioedema, Edema of the dorsum of hands |
OMIM:619363 |
Lymphatic Malformation 11 |
|
Pedal edema, Lymphedema |
OMIM:619401 |
Dysplasia Of Head Of Femur, Meyer Type |
|
Multicentric femoral head ossification, Congenital hip dislocation, Leukocytosis, Delayed femoral... |
ORPHA:168621 |
Kaposi Sarcoma, Susceptibility To |
|
Edema |
OMIM:148000 |
Lymphatic Malformation 2 |
|
Lymphedema |
OMIM:611944 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
Angioedema, Hereditary, 5 |
|
Facial edema, Angioedema, Edema of the dorsum of hands |
OMIM:619361 |
Lissencephaly, X-Linked, 1 |
|
Ataxia, Postnatal growth retardation, Gray matter heterotopia, Lissencephaly, Pachygyria, Agenesi... |
OMIM:300067 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... |
OMIM:112910 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... |
OMIM:118651 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
Lissencephaly 3 |
|
Ataxia, Periventricular laminar heterotopia, Pachygyria, Gray matter heterotopia, Lissencephaly, ... |
OMIM:611603 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Edema, Pulmonary edema |
OMIM:178400 |
Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... |
OMIM:249700 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia |
OMIM:246570 |
Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Intrauterine growth retarda... |
OMIM:615411 |
Sub-Cortical Nodular Heterotopia |
|
Polymicrogyria, Subcortical heterotopia, Agenesis of corpus callosum, Abnormality of neuronal mig... |
ORPHA:101029 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome |
|
Lymphedema |
ORPHA:69061 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
Edema, Familial Idiopathic, Prepubertal |
|
Edema |
OMIM:129840 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormal repetitive mannerisms, Ataxia, Abnormality of neuronal migration, Attention deficit hype... |
OMIM:618709 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... |
OMIM:607778 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
Polymicrogyria Due To Tubb2B Mutation |
|
Perisylvian polymicrogyria, Gray matter heterotopia, Lateral ventricle dilatation, Lissencephaly,... |
ORPHA:300573 |
Chudley-Mccullough Syndrome |
|
Gray matter heterotopia, Partial agenesis of the corpus callosum, Polymicrogyria, Dysplastic corp... |
OMIM:604213 |
Macular Dystrophy, Dominant Cystoid |
|
Cystoid macular edema, Edema |
OMIM:153880 |
Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity, Impulsivity, Aggressive behavior, Pachygyria, Simplified gyral pattern, Abnormalit... |
OMIM:604317 |
Mesomelic Dysplasia, Savarirayan Type |
|
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat... |
OMIM:605274 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Lymphocytosis |
OMIM:606445 |
Lissencephaly 1 |
|
Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria |
OMIM:607432 |
Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... |
OMIM:612447 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema |
OMIM:618773 |
Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Follicular hyperplasia, Splenomegaly... |
OMIM:614470 |
Lymphatic Malformation 3 |
|
Lymphedema |
OMIM:613480 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... |
ORPHA:2756 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Macular atrophy, Mizuo p... |
OMIM:312700 |
Mismatch Repair Cancer Syndrome 4 |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:619101 |
Acute Peripheral Arterial Occlusion |
|
Myocardial infarction, Abnormal capillary physiology, Leukocytosis, Absent ankle pulse, Supravent... |
ORPHA:90064 |
Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
White Sponge Nevus 2 |
|
Edema |
OMIM:615785 |
Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... |
OMIM:135750 |
Microlissencephaly |
|
Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa... |
ORPHA:1083 |
Maternal Hyperthermia-Induced Birth Defects |
|
Intrauterine growth retardation, Short stature, Abnormality of neuronal migration, Cognitive impa... |
ORPHA:2216 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior |
ORPHA:208441 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... |
ORPHA:93322 |
Symmetrical Thalamic Calcifications |
|
Ataxia, Abnormality of neuronal migration, Cognitive impairment |
ORPHA:1314 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Gray matter heterotopia, Pachygyria, Agyria |
ORPHA:1084 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal... |
OMIM:201170 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... |
OMIM:263300 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Hyperactivity, Broad-based gait, Short stature, Anorexia, Aggressive behavior, Tr... |
ORPHA:3077 |
Glutathionuria |
|
Tremor, Gray matter heterotopia, Dysdiadochokinesis, Agenesis of corpus callosum, Action tremor |
OMIM:231950 |
Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
|
Periventricular nodular heterotopia, Periventricular heterotopia |
OMIM:608097 |
Band Heterotopia |
|
Subcortical band heterotopia, Gray matter heterotopia, Lateral ventricle dilatation, Polymicrogyr... |
OMIM:600348 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Short stature, Postnatal growth retardation, Abnormal fear-induced ... |
ORPHA:309246 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Anemia |
OMIM:619398 |
Lymphatic Malformation 10 |
|
Lymphedema |
OMIM:619369 |
Nodular Neuronal Heterotopia |
|
Abnormality of neuronal migration |
ORPHA:2149 |
Deafness, Unilateral, With Delayed Endolymphatic Hydrops |
|
Edema |
OMIM:612097 |
Lymphatic Malformation 9 |
|
Predominantly lower limb lymphedema |
OMIM:619319 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema |
OMIM:613611 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... |
ORPHA:93356 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Ataxia, Aggressive behavior, Abnormal neuron morphology, Abnormality of neuronal m... |
ORPHA:163681 |
Orofaciodigital Syndrome Ix |
|
Toe syndactyly, Hand polydactyly, Retinal coloboma, Camptodactyly, Short tibia |
OMIM:258865 |
Autosomal Recessive Primary Microcephaly |
|
Short stature, Growth delay, Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum |
ORPHA:2512 |
Blount Disease |
|
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... |
ORPHA:2768 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... |
OMIM:258860 |
Lymphedema And Cerebral Arteriovenous Anomaly |
|
Lymphedema |
OMIM:152900 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... |
OMIM:119100 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
Acromesomelic Dysplasia 2B |
|
Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... |
OMIM:228900 |
Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... |
OMIM:619924 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Periventricular nodular heterotopia, Abnormal repetitive mannerisms, Attention deficit hyperactiv... |
OMIM:620065 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Short stature, Periventricular heterotopia, Partial agenesis of the corpus callosum, Simplified g... |
OMIM:616171 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... |
ORPHA:988 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Follicular hyp... |
OMIM:619846 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of inadequate pro... |
ORPHA:75564 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... |
ORPHA:1106 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephaly, Dysphagia, Intrau... |
ORPHA:89844 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Retinal detachment, Short femur, Rhizomelia, Sandal gap, Hypoplasia of the radius,... |
OMIM:607143 |
Juvenile Temporal Arteritis |
|
Leukocytosis, Vasculitis, Cerebral ischemia, Eosinophilia |
ORPHA:26137 |
Eiken Syndrome |
|
Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip m... |
ORPHA:79106 |
Immunodeficiency 27A |
|
Hypoplasia of the femoral head, Splenomegaly, Leukocytosis, Enlarged mesenteric lymph node, Lymph... |
OMIM:209950 |
Stuve-Wiedemann Syndrome 1 |
|
Micrognathia, Femoral bowing, Knee flexion contracture, Tibial bowing, Short tibia, Short phalanx... |
OMIM:601559 |
Bilateral Striopallidodentate Calcinosis |
|
Intrauterine growth retardation, Abnormality of neuronal migration |
ORPHA:1980 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lymph node hypopl... |
OMIM:602450 |
Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig... |
ORPHA:85170 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle... |
ORPHA:85188 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha... |
OMIM:268305 |
Slc35A2-Cdg |
|
Camptodactyly of finger, Coxa valga, Metatarsus adductus, Abnormal long bone morphology, Talipes ... |
ORPHA:356961 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Lymphade... |
ORPHA:169154 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Splenomegaly, Vasculitis, Lymphadenopathy, Lymphocytosis, Hemophag... |
OMIM:308240 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Cone/cone-rod dystrophy, Short metacarpal, Rhizomelia, Metaphyseal widening, Coxa vara, Tibial bo... |
OMIM:608940 |
Microcephaly-Micromelia Syndrome |
|
Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, For... |
OMIM:251230 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Ankle swelling, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, ... |
ORPHA:514 |
Hemimegalencephaly |
|
Gray matter heterotopia, Pachygyria, Polymicrogyria, Abnormal neuron morphology |
ORPHA:99802 |
Lissencephaly 6 With Microcephaly |
|
Periventricular heterotopia, Pachygyria, Partial agenesis of the corpus callosum, Simplified gyra... |
OMIM:616212 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A... |
ORPHA:2378 |
Growth Hormone Deficiency, Isolated Partial |
|
Postnatal growth retardation, Short stature |
OMIM:615925 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... |
ORPHA:166016 |
Cinca Syndrome |
|
Papilledema, Eosinophilia, Leukocytosis, Patellar overgrowth, Lymphadenopathy, Hepatosplenomegaly... |
OMIM:607115 |
Acute Myelomonocytic Leukemia |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
ORPHA:517 |
Atelosteogenesis Type Iii |
|
Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han... |
ORPHA:56305 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Bent Bone Dysplasia Syndrome 2 |
|
Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short sternum, Short ri... |
OMIM:620076 |
Kimura Disease |
|
Eosinophilia, Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Intracranial hemorrhage, ... |
ORPHA:3226 |
Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Edema |
OMIM:610158 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Short stature, Tremor, Abnormality of neuronal migration, Depression, Gait disturbance |
OMIM:300957 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Tremor, Dysplastic corpus callosum, Memory impairment, Periventricular nodular heterotopia, Intra... |
OMIM:619737 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of naive T cells, Lymph node hypoplasia, Abnormally low T cell receptor exci... |
ORPHA:276 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... |
OMIM:609945 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocytosis, Abnormal lymph node morpholo... |
OMIM:612840 |
Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli... |
OMIM:171480 |
Yellow Nail Syndrome |
|
Predominantly lower limb lymphedema, Lymphedema |
OMIM:153300 |
Cerebral Palsy, Spastic Quadriplegic, 3 |
|
Gray matter heterotopia, Cognitive impairment, Dysphagia |
OMIM:617008 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
Subependymal Nodular Heterotopia |
|
Gray matter heterotopia, Partial agenesis of the corpus callosum, Polymicrogyria, Abnormality of ... |
ORPHA:101030 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul... |
ORPHA:2634 |
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Short stature, Periventricular heterotopia, Inability to walk, Unsteady gait, Simplified gyral pa... |
OMIM:618273 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Gray matter heterotopia, Pachygyria, Difficulty walking, Tip-toe gait |
ORPHA:370980 |
Ivic Syndrome |
|
Aplastic clavicle, Preaxial hand polydactyly, Leukocytosis, Hypoplasia of the radius, Short thumb... |
ORPHA:2307 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla... |
OMIM:227270 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
Femoral-Facial Syndrome |
|
Short femur, Micrognathia, Coxa vara, Abnormal fibula morphology, Abnormal pelvic girdle bone mor... |
ORPHA:1988 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... |
OMIM:613091 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal hemorrhage, Abnorm... |
ORPHA:86839 |
Acquired Partial Lipodystrophy |
|
Lymphocytosis |
ORPHA:79087 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short tibia, Tricuspid regurgitation, Talipes equinovarus, Short femur |
OMIM:620306 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, ... |
OMIM:616300 |
Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... |
OMIM:609441 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus... |
ORPHA:3320 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Tricuspid regurgitation, Retinal dystrophy, Preaxial hand polydactyly, Postaxial hand polydactyly... |
OMIM:263520 |
Acromelic Frontonasal Dysostosis |
|
Syndactyly, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Preaxial polydactyly... |
OMIM:603671 |
Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos... |
ORPHA:2751 |
Unclassified Myelodysplastic Syndrome |
|
Acute myeloid leukemia, Leukocytosis, Bone marrow hypocellularity |
ORPHA:98827 |
Chiari Malformation Type Ii |
|
Ataxia, Opisthotonus, Gray matter heterotopia, Dysphagia, Agenesis of corpus callosum |
OMIM:207950 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... |
ORPHA:86843 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Rickets of the lower limbs, Delayed epiphyseal ossif... |
OMIM:600785 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Peripheral retinal avascularization, Micrognathia, Tibial bowing, Hypoplastic iliac wing, Small p... |
ORPHA:96334 |
Radio-Tartaglia Syndrome |
|
Ataxia, Impulsivity, Aggressive behavior, Tremor, Gray matter heterotopia, Agenesis of corpus cal... |
OMIM:619312 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Impulsivity, Periventricular heterotopia, Interhypothalamic adhesion, Self-injurious behavior, At... |
OMIM:618929 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Abnormality of the spleen, Lymphadenopathy, Lymphocytosis, Hypotensi... |
ORPHA:79456 |
Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... |
OMIM:265300 |
Purine Nucleoside Phosphorylase Deficiency |
|
Cerebral vasculitis, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytope... |
OMIM:613179 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow... |
OMIM:602111 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
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Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ... |
OMIM:119800 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
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Short stature, Ataxia, Aggressive behavior, Periventricular heterotopia, Self-injurious behavior,... |
OMIM:619833 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Ataxia, Periventricular heterotopia, Intrauterine growth retardation, Pachygyria, Agenesis of cor... |
ORPHA:255138 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, ... |
ORPHA:98850 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Bowing of the long bones, Radial bowing, Micrognathia, Splenomegaly, Abnormality of the lower lim... |
ORPHA:3035 |
Omenn Syndrome |
|
Eosinophilia, Splenomegaly, Leukocytosis, Short toe, Lymphadenopathy, Abnormal metaphysis morphol... |
ORPHA:39041 |
Oculocerebrocutaneous Syndrome |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:164180 |
Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Absent thumb, Short thumb,... |
OMIM:147750 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Short stature, Abnormality of neuronal migration |
ORPHA:2204 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Gray matter heterotopia, Type II lissencephaly, Dysgyria |
ORPHA:352682 |
Omodysplasia 1 |
|
Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Limite... |
OMIM:258315 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Pachygyria, Short stature, Abnormality of neuronal migration |
OMIM:608840 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Short attention span, Exaggerated startle response, Short stature, Inability to walk, Irritability |
OMIM:617864 |
Brain Small Vessel Disease 2 |
|
Growth delay, Subcortical heterotopia, Polymicrogyria |
OMIM:614483 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walkin... |
ORPHA:100924 |
3-Hydroxyisobutyric Aciduria |
|
Abnormality of neuronal migration |
OMIM:236795 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Eosinophilia, Splenomegaly,... |
ORPHA:98849 |
Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Cervical lymphadenopathy, Vasculitis, Decreased mean platelet volume, Lymphadenopathy, Hematochez... |
OMIM:617718 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Mesomelia, Ulnar ... |
OMIM:164900 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... |
ORPHA:232 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Attention deficit hyperactivity disorder, Periventricular heterotopia |
OMIM:618974 |
Desmosterolosis |
|
Severe short stature, Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, ... |
ORPHA:35107 |
Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ataxia, Periventricular heterotopia, Inappropriate laughter, Cognitive impairment, Difficulty wal... |
OMIM:618476 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypopl... |
OMIM:617925 |
Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous syndactyly, Postaxial hand ... |
OMIM:206920 |
Stiff Person Spectrum Disorder |
|
Emotional lability, Exaggerated startle response, Falls, Difficulty walking |
ORPHA:3198 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... |
OMIM:608643 |
Walker-Warburg Syndrome |
|
Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph... |
ORPHA:899 |
Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg... |
OMIM:618150 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Cardiac arrest, Eosinophilia, Myocarditis, Lymphadenopathy, Lymphocytosis |
ORPHA:139402 |
Fragile X Syndrome |
|
Hyperactivity, Recurrent hand flapping, Self-biting, Periventricular heterotopia |
OMIM:300624 |
Immunodeficiency 92 |
|
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... |
OMIM:619652 |
Lissencephaly 5 |
|
Gray matter heterotopia, Subcortical band heterotopia, Type II lissencephaly |
OMIM:615191 |
Thanatophoric Dysplasia Type 2 |
|
Short stature, Abnormality of neuronal migration, Cognitive impairment |
ORPHA:93274 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Disproportionate short-limb short stature, Abnormality of neuronal migration, Intrauterine growth... |
ORPHA:2772 |
Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... |
OMIM:274000 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Congenital Disorder Of Deglycosylation 2 |
|
Partial agenesis of the corpus callosum, Gray matter heterotopia, Hypothalamic hamartoma, Dysphag... |
OMIM:619775 |
Periventricular Nodular Heterotopia 7 |
|
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria, Ataxia |
OMIM:617201 |
Sickle Cell Disease |
|
Hemolytic anemia, Splenomegaly, Leukocytosis, Splenic infarction, Hypertension, Retinopathy, Incr... |
OMIM:603903 |
16P13.11 Microdeletion Syndrome |
|
Short stature, Abnormality of neuronal migration, Self-injurious behavior, Compulsive behaviors, ... |
ORPHA:261236 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Agyria, Lissencephaly, Pachygyria, Agenesis of corpus callosum, Pol... |
OMIM:253800 |
Tay-Sachs Disease |
|
Short attention span, Exaggerated startle response, Dystonia, Tremor, Inability to walk, Dysmetri... |
ORPHA:845 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Lateral ventricle dilatation, Dystonia, Periventricular heterotopia |
OMIM:614105 |
Eiken Syndrome |
|
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... |
OMIM:600002 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Subcortical heterotopia, Agyria, Partial agenesis of the corpus callosum, Gray matter heterotopia... |
OMIM:614643 |
Acrofacial Dysostosis, Rodríguez Type |
|
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird... |
ORPHA:1788 |
Lymphatic Malformation 6 |
|
Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Periorbital edema,... |
OMIM:616843 |
Autoimmune Lymphoproliferative Syndrome |
|
Reticulocytosis, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia... |
ORPHA:3261 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Gray matter heterotopia, Polymicrogyria, Agenesis of corpus callosum, Type II lissencephaly |
ORPHA:370959 |
Tetrasomy 18P |
|
Gait disturbance, Abnormality of neuronal migration |
ORPHA:3307 |
Orofaciodigital Syndrome Type 6 |
|
Short stature, Ataxia, Tremor, Abnormality of neuronal migration, Growth delay, Gait disturbance,... |
ORPHA:2754 |
Atelosteogenesis, Type I |
|
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta... |
OMIM:108720 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Leukocytosis, Vasculitis, Lymphadenopathy, Increased proportion of CD4-positive T c... |
OMIM:617099 |
Periventricular Nodular Heterotopia 1 |
|
Gray matter heterotopia, Abnormality of neuronal migration |
OMIM:300049 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis |
OMIM:618042 |
Galloway-Mowat Syndrome |
|
Short stature, Abnormality of neuronal migration, Cognitive impairment, Intrauterine growth retar... |
ORPHA:2065 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Inability to walk, Exaggerated startle response, Depression |
OMIM:620114 |
Developmental And Epileptic Encephalopathy 49 |
|
Dysplastic corpus callosum, Hyperactivity, Exaggerated startle response |
OMIM:617281 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Retinal degeneration, Early ossification of capital femoral epiphyses, Co... |
OMIM:208500 |
Neonatal Adrenoleukodystrophy |
|
Short stature, Abnormality of neuronal migration |
ORPHA:44 |
Vici Syndrome |
|
Gray matter heterotopia, Agenesis of corpus callosum, Short stature |
ORPHA:1493 |
Acalvaria |
|
Abnormality of neuronal migration |
ORPHA:945 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... |
OMIM:300908 |
Cerebrofacioarticular Syndrome |
|
Ataxia, Short stature, Dysplastic corpus callosum, Gray matter heterotopia, Self-injurious behavi... |
ORPHA:314679 |
Pseudo-Torch Syndrome 2 |
|
Gray matter heterotopia, Lateral ventricle dilatation, Polymicrogyria |
OMIM:617397 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Simplified gyral pattern, Gray matter heterotopia, Colpocephaly, Lissencephaly, Agenesis of corpu... |
OMIM:615219 |
Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Hypopl... |
ORPHA:958 |
Leukodystrophy, Hypomyelinating, 13 |
|
Irritability, Exaggerated startle response, Ataxia |
OMIM:616881 |
Leber Congenital Amaurosis |
|
Abnormality of neuronal migration |
ORPHA:65 |
Man1B1-Cdg |
|
Resting tremor, Broad-based gait, Polyphagia, Periventricular heterotopia |
ORPHA:397941 |
Orofaciodigital Syndrome X |
|
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia |
OMIM:165590 |
Fibrochondrogenesis 1 |
|
Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia... |
OMIM:228520 |
Hypomelanosis Of Ito |
|
Gray matter heterotopia |
OMIM:300337 |
Kikuchi-Fujimoto Disease |
|
Generalized lymphadenopathy, Splenomegaly, Cervical lymphadenopathy, Vasculitis, Myocarditis, Thr... |
ORPHA:50918 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response, Short stature, Irritability, Lateral ventricle dilatation, Dysphagia |
OMIM:618367 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Gray matter heterotopia |
OMIM:619694 |
Joubert Syndrome |
|
Ataxia, Tremor, Abnormality of neuronal migration, Gait disturbance, Polymicrogyria |
ORPHA:475 |
Occipital Horn Syndrome |
|
Pes planus, Brachydactyly, Down-sloping shoulders, Aplastic clavicle, Aplasia/hypoplasia of the h... |
ORPHA:198 |
Tay-Sachs Disease |
|
Psychomotor deterioration, Exaggerated startle response, Dementia |
OMIM:272800 |
Omodysplasia 2 |
|
Short humerus, Micrognathia, Fibular hypoplasia, Hypoplastic distal humeri, Rhizomelic arm shorte... |
OMIM:164745 |
Meige Disease |
|
Lymph node hypoplasia, Pedal edema, Absence of lymph node germinal center |
ORPHA:90186 |
Thanatophoric Dysplasia |
|
Gray matter heterotopia, Disproportionate short-limb short stature, Intrauterine growth retardation |
ORPHA:2655 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Agitation |
OMIM:618056 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Short attention span, Broad-based gait, Exaggerated startle response, Ataxia, Dystonia |
ORPHA:438216 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormality of neuronal migration, Cognitive impairment |
ORPHA:2063 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplicatio... |
OMIM:236680 |
9Q21.13 Microdeletion Syndrome |
|
Postnatal growth retardation, Gray matter heterotopia, Difficulty walking |
ORPHA:531151 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Polymicrogyria, Pachygyria, Agenesis of corpus callosum, Abnormality of neuronal migration |
ORPHA:157 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Short stature, Attention deficit hyperactivity disorder, Periventricular heterotopia |
OMIM:618870 |
Developmental And Epileptic Encephalopathy 8 |
|
Frontal polymicrogyria, Exaggerated startle response |
OMIM:300607 |
Edinburgh Malformation Syndrome |
|
Abnormality of neuronal migration |
ORPHA:1895 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Intrauterine growth retardation, Exaggerated startle response, Dysgyria |
OMIM:620327 |
Wolcott-Rallison Syndrome |
|
Iron deficiency anemia, Metaphyseal dysplasia, Lymphocytosis, Neutropenia |
ORPHA:1667 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Intrauterine growth retardation, Short stature, Abnormality of neuronal migration |
ORPHA:2518 |
Neu-Laxova Syndrome |
|
Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Opisthoton... |
ORPHA:2671 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Opisthotonus, Depression |
OMIM:184850 |
Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Aplasia of the ulna, ... |
ORPHA:2879 |
Agammaglobulinemia, X-Linked |
|
Lymph node hypoplasia, T lymphocytopenia, B lymphocytopenia, Neutropenia, Anemia |
OMIM:300755 |
3C Syndrome |
|
Postnatal growth retardation, Short stature, Abnormality of neuronal migration |
ORPHA:7 |
6Q Terminal Deletion Syndrome |
|
Periventricular heterotopia, Abnormality of neuronal migration, Dysmetria, Gait ataxia, Gray matt... |
ORPHA:75857 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuronal migration |
OMIM:608836 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Abnormal cortical gyration, Cognitive impairment, Dysphagia |
OMIM:617527 |
Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missing ribs, Split h... |
OMIM:200980 |
Asparagine Synthetase Deficiency |
|
Exaggerated startle response, Tremor, Simplified gyral pattern, Irritability, Intrauterine growth... |
OMIM:615574 |
Bohring-Opitz Syndrome |
|
Short stature, Mesomelic/rhizomelic limb shortening, Gray matter heterotopia, Intrauterine growth... |
OMIM:605039 |
Coffin-Lowry Syndrome |
|
Self-injurious behavior, Gait disturbance, Abnormality of neuronal migration, Short stature |
ORPHA:192 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Severe short stature, Periventricular heterotopia, Pachygyria, Simplified gyral pattern, Self-inj... |
ORPHA:468631 |
Thanatophoric Dysplasia, Type I |
|
Neonatal death, Gray matter heterotopia, Lethal short-limbed short stature, Disproportionate shor... |
OMIM:187600 |
Poretti-Boltshauser Syndrome |
|
Gray matter heterotopia |
OMIM:615960 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Polymicrogyria, Pachygyria, Agenesis of corpus callosum, Abnormality of neuronal migration |
ORPHA:228308 |
Opitz-Kaveggia Syndrome |
|
Gray matter heterotopia, Partial agenesis of the corpus callosum, Short stature, Attention defici... |
OMIM:305450 |
Campomelic Dysplasia |
|
11 pairs of ribs, Bowing of the long bones, Small abnormally formed scapulae, Micrognathia, Hip d... |
ORPHA:140 |
Acromelic Frontonasal Dysplasia |
|
Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia |
ORPHA:1827 |
Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
Joubert Syndrome 30 |
|
Gray matter heterotopia |
OMIM:617622 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dementia, Dystonia |
OMIM:272750 |
16Q24.3 Microdeletion Syndrome |
|
Colpocephaly, Dysphagia, Periventricular heterotopia |
ORPHA:261250 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Dysplastic corpus callosum, Gray matter heterotopia, Colpocephaly, Attention deficit hyperactivit... |
OMIM:618820 |
Periventricular Nodular Heterotopia 9 |
|
Broad-based gait, Gray matter heterotopia, Compulsive behaviors, Attention deficit hyperactivity ... |
OMIM:618918 |
Alg11-Cdg |
|
Gray matter heterotopia, Ataxia, Opisthotonus |
ORPHA:280071 |
Sandhoff Disease |
|
Exaggerated startle response, Progressive psychomotor deterioration, Ataxia |
OMIM:268800 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Inability to walk, Gray matter heterotopia, Fatigable weakness of neck muscles, Dysphagia |
ORPHA:26791 |
Neuromuscular Oculoauditory Syndrome |
|
Unsteady gait, Agenesis of corpus callosum, Periventricular heterotopia |
OMIM:618733 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph... |
ORPHA:2211 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Frontal polymicrogyria, Short stature, Gray matter heterotopia, Dystonia, Neonatal death, Pachygyria |
OMIM:620024 |
Van Maldergem Syndrome 1 |
|
Subcortical band heterotopia, Simplified gyral pattern, Growth delay, Gray matter heterotopia, Pe... |
OMIM:601390 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Abnormality of neuronal migration, Birth length less than 3rd percentile, Gait disturbance, Atten... |
ORPHA:464311 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Inability to walk, Exaggerated startle response |
OMIM:609541 |
Campomelic Dysplasia |
|
Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor... |
OMIM:114290 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Abnormal cortical gyration, Progressive neurologic deterioration, Partial agenesis of the corpus ... |
OMIM:210710 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response, Ataxia |
OMIM:618598 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response, Difficulty walking |
ORPHA:320406 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Perianal abscess, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced natural killer c... |
OMIM:301074 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t... |
OMIM:276820 |
Joubert Syndrome With Hepatic Defect |
|
Tremor, Ataxia, Abnormality of neuronal migration, Gait disturbance |
ORPHA:1454 |
Aicardi Syndrome |
|
Postnatal growth retardation, Partial agenesis of the corpus callosum, Gray matter heterotopia, L... |
OMIM:304050 |
Koolen-De Vries Syndrome |
|
Hyperactivity, Short stature, Impulsivity, Gray matter heterotopia, Intrauterine growth retardation |
OMIM:610443 |
Plaa-Associated Neurodevelopmental Disorder |
|
Impaired oropharyngeal swallow response, Exaggerated startle response, Abnormal cortical gyration... |
ORPHA:521426 |
Joubert Syndrome With Oculorenal Defect |
|
Ataxia, Abnormality of neuronal migration |
ORPHA:2318 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Neonatal death, Gray matter heterotopia, Polymicrogyria |
OMIM:614887 |
Orofaciodigital Syndrome Xvi |
|
Inability to walk, Gray matter heterotopia, Ataxia |
OMIM:617563 |
Bilateral Perisylvian Polymicrogyria |
|
Perisylvian predominant thick cortex pachygyria, Abnormality of neuronal migration, Bilateral per... |
ORPHA:98889 |
Charge Syndrome |
|
Hypoplasia of the ulna, Down-sloping shoulders, Micrognathia, Absent radius, Short thumb, Hand mo... |
OMIM:214800 |
Vici Syndrome |
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Postnatal growth retardation, Gray matter heterotopia, Agenesis of corpus callosum, Dysphagia |
OMIM:242840 |
Nijmegen Breakage Syndrome |
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Mental deterioration, Short stature, Abnormality of neuronal migration, Attention deficit hyperac... |
ORPHA:647 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
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Growth delay, Exaggerated startle response |
OMIM:608800 |
Hyperekplexia-Epilepsy Syndrome |
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Exaggerated startle response |
ORPHA:163985 |
Neurocutaneous Melanocytosis |
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Abnormality of neuronal migration |
ORPHA:2481 |
Thanatophoric Dysplasia Type 1 |
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Gray matter heterotopia, Lethal short-limbed short stature |
ORPHA:1860 |
Periventricular Nodular Heterotopia |
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Periventricular heterotopia |
ORPHA:98892 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
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Unsteady gait, Gray matter heterotopia, Dysphagia, Loss of ambulation, Polymicrogyria |
OMIM:214100 |
Alkuraya-Kucinskas Syndrome |
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Gray matter heterotopia, Lissencephaly |
OMIM:617822 |
Glycine Encephalopathy With Normal Serum Glycine |
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Exaggerated startle response, Dysphagia |
OMIM:617301 |
Orofaciodigital Syndrome I |
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Short stature, Abnormal cortical gyration, Gray matter heterotopia, Hypothalamic hamartoma, Agene... |
OMIM:311200 |
Developmental And Epileptic Encephalopathy 68 |
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Exaggerated startle response |
OMIM:618201 |
Miller-Dieker Lissencephaly Syndrome |
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Gray matter heterotopia, Lissencephaly, Intrauterine growth retardation, Pachygyria, Agyria |
OMIM:247200 |
Van Maldergem Syndrome 2 |
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Growth delay, Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band hete... |
OMIM:615546 |
Cranioectodermal Dysplasia 1 |
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Broad toe, Brachydactyly, Short humerus, Rhizomelia, Retinal dystrophy, Broad distal phalanges of... |
OMIM:218330 |
Mismatch Repair Cancer Syndrome 1 |
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Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:276300 |
Otopalatodigital Syndrome, Type Ii |
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Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Short ... |
OMIM:304120 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Hyperactivity, Abnormal lateral ventricle morphology, Short stature, Impulsivity, Aggressive beha... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Hyperactivity, Abnormal lateral ventricle morphology, Short stature, Impulsivity, Aggressive beha... |
ORPHA:353277 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
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Inability to walk, Growth delay, Gray matter heterotopia, Bruxism, Agenesis of corpus callosum |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
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Inability to walk, Growth delay, Gray matter heterotopia, Bruxism, Agenesis of corpus callosum |
ORPHA:352665 |
Hyperekplexia 3 |
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Exaggerated startle response |
OMIM:614618 |
Hyperekplexia 2 |
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Exaggerated startle response |
OMIM:614619 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
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Gray matter heterotopia |
OMIM:618797 |
Holoprosencephaly |
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Abnormality of neuronal migration, Cognitive impairment, Dystonia |
ORPHA:2162 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Hyperactivity, Short stature, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, S... |
ORPHA:353281 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
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Gray matter heterotopia, Intrauterine growth retardation, Bruxism |
ORPHA:453499 |
Gm1 Gangliosidosis Type 1 |
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Intrauterine growth retardation, Exaggerated startle response, Dystonia |
ORPHA:79255 |
Holoprosencephaly 14 |
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Gray matter heterotopia, Partial agenesis of the corpus callosum, Periventricular heterotopia |
OMIM:619895 |
Sandhoff Disease, Infantile Form |
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Exaggerated startle response |
ORPHA:309155 |
Orofaciodigital Syndrome Type 4 |
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Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand polydactyly, ... |
ORPHA:2753 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
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Gray matter heterotopia |
OMIM:608624 |
Hyperekplexia 1 |
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Exaggerated startle response |
OMIM:149400 |
Smith-Lemli-Opitz Syndrome |
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Hyperactivity, Short stature, Aggressive behavior, Periventricular heterotopia, Partial agenesis ... |
OMIM:270400 |
Arima Syndrome |
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Growth delay, Gray matter heterotopia, Polydipsia, Ataxia |
OMIM:243910 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
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Gray matter heterotopia, Agenesis of corpus callosum, Type II lissencephaly |
OMIM:615287 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Exaggerated startle response, Short stature, Growth delay, Attention deficit hyperactivity disord... |
OMIM:619522 |
Liver Disease, Severe Congenital |
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Micrognathia, Splenomegaly, Abnormal left ventricular function, Leukopenia, Anemia, Lymphocytosis... |
OMIM:619991 |
Ventriculomegaly With Cystic Kidney Disease |
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Gray matter heterotopia |
OMIM:219730 |
Fontaine Progeroid Syndrome |
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Short stature, Periventricular heterotopia, Gray matter heterotopia, Neonatal death, Intrauterine... |
OMIM:612289 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Broad-based gait, Exaggerated startle response, Short stature, Dystonia, Inability to walk, Dysph... |
ORPHA:438213 |
Genitopatellar Syndrome |
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Periventricular heterotopia, Colpocephaly, Dysphagia, Pachygyria, Agenesis of corpus callosum |
OMIM:606170 |
Orofaciodigital Syndrome Xiv |
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Partial agenesis of the corpus callosum, Polymicrogyria, Simplified gyral pattern, Periventricula... |
OMIM:615948 |
Pagod Syndrome |
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Short stature, Abnormality of neuronal migration |
ORPHA:991 |
Orofaciodigital Syndrome Type 14 |
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Partial agenesis of the corpus callosum, Periventricular heterotopia |
ORPHA:434179 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
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Abnormality of neuronal migration |
ORPHA:3186 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Broad-based gait, Short stature, Periventricular heterotopia, Inability to walk, Dysphagia, Agene... |
ORPHA:261537 |
Mowat-Wilson Syndrome |
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Broad-based gait, Ataxia, Short stature, Periventricular heterotopia, Inability to walk, Dysphagi... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Broad-based gait, Short stature, Periventricular heterotopia, Inability to walk, Dysphagia, Agene... |
ORPHA:261552 |
Proteus Syndrome |
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Gray matter heterotopia |
ORPHA:744 |