| Lipedema |
|
Edema |
OMIM:614103 |
| Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
| Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
| Angioedema, Hereditary, 6 |
|
Angioedema, Facial edema, Edema of the dorsum of hands |
OMIM:619363 |
| Lymphatic Malformation 11 |
|
Pedal edema, Lymphedema |
OMIM:619401 |
| Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
| Kaposi Sarcoma, Susceptibility To |
|
Edema |
OMIM:148000 |
| Lymphatic Malformation 2 |
|
Lymphedema |
OMIM:611944 |
| Angioedema, Hereditary, 5 |
|
Angioedema, Facial edema, Edema of the dorsum of hands |
OMIM:619361 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
| Nephrosialidosis |
|
Pericardial effusion, Ascites, Bone-marrow foam cells |
OMIM:256150 |
| Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated circulating creatine kinase concentration, Elevated creatine kinase after exercise |
ORPHA:206599 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria, Intraut... |
OMIM:615411 |
| Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Edema, Pulmonary edema |
OMIM:178400 |
| Lissencephaly 1 |
|
Gray matter heterotopia, Dilation of Virchow-Robin spaces, Agyria, Lissencephaly, Subcortical ban... |
OMIM:607432 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome |
|
Lymphedema |
ORPHA:69061 |
| Edema, Familial Idiopathic, Prepubertal |
|
Edema |
OMIM:129840 |
| Lymphatic Malformation 8 |
|
Polyhydramnios, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Stillbirth, Ge... |
OMIM:618773 |
| Primary Effusion Lymphoma |
|
Pericardial effusion, Pleural effusion |
ORPHA:48686 |
| Lymphatic Malformation 7 |
|
Anemia, Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Atrial sept... |
OMIM:617300 |
| Macular Dystrophy, Dominant Cystoid |
|
Edema, Cystoid macular edema |
OMIM:153880 |
| Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema |
OMIM:613611 |
| Meckel Syndrome, Type 8 |
|
Pericardial effusion, Occipital encephalocele, Encephalocele |
OMIM:613885 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Oligohydramnios, Pleural effusion, Hypertrophic cardiomyopathy, Cardiomegal... |
OMIM:614702 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Abnormality of neuronal migration |
OMIM:618709 |
| Hydrops Fetalis |
|
Polyhydramnios, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Ab... |
ORPHA:1041 |
| Lymphatic Malformation 3 |
|
Lymphedema |
OMIM:613480 |
| Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death |
OMIM:611369 |
| Microlissencephaly |
|
Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa... |
ORPHA:1083 |
| Cantu Syndrome |
|
Patent ductus arteriosus, Congenital hypertrophy of left ventricle, Lymphedema, Pericardial effus... |
OMIM:239850 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma, Posterior lenticonus |
ORPHA:231736 |
| Chudley-Mccullough Syndrome |
|
Gray matter heterotopia, Hydrocephalus, Polymicrogyria |
OMIM:604213 |
| Congenital Pulmonary Lymphangiectasia |
|
Hydrops fetalis, Pulmonic stenosis, Chylopericardium, Pleural effusion, Ascites, Splenomegaly |
ORPHA:2414 |
| White Sponge Nevus 2 |
|
Edema |
OMIM:615785 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Gray matter heterotopia, Hydrocephalus, Dysgyria, Type II lissencephaly, Occipital encephalocele |
ORPHA:352682 |
| Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Gray matter heterotopia, Agyria, Pachygyria |
ORPHA:1084 |
| Lissencephaly 3 |
|
Gray matter heterotopia, Agyria, Lissencephaly, Pachygyria, Periventricular laminar heterotopia, ... |
OMIM:611603 |
| Acalvaria |
|
Spina bifida, Holoprosencephaly, Hydrocephalus, Abnormality of neuronal migration |
ORPHA:945 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Abnormal cardiac septum morphology, Pericardial effusion, Hepatosplenomegaly, Edema, Ascites |
OMIM:608776 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Ventricular septal defect, Pericardial effusion, Hypertrophic cardiomyopathy, Persistent left sup... |
OMIM:618775 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Restrictive cardiomyopathy, Hypoplasia of the thymus, T lympho... |
OMIM:619313 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Myofiber disarray, Pulmonary edema, Pericardial effusion, Transient isch... |
OMIM:115197 |
| Craniofaciofrontodigital Syndrome |
|
Patent ductus arteriosus, Polyhydramnios, Anomalous branches of internal carotid artery, Ventricu... |
ORPHA:363705 |
| Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
|
Periventricular heterotopia, Periventricular nodular heterotopia |
OMIM:608097 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Ventricular septal defect, Lymphedema, Pericardial effusion, Thyroid lymphangiectasia, Pulmonary ... |
OMIM:235510 |
| Sub-Cortical Nodular Heterotopia |
|
Subcortical heterotopia, Abnormality of neuronal migration, Polymicrogyria |
ORPHA:101029 |
| Nodular Neuronal Heterotopia |
|
Abnormality of neuronal migration |
ORPHA:2149 |
| Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Pericardial effusion |
OMIM:614684 |
| Lissencephaly, X-Linked, 1 |
|
Gray matter heterotopia, Lissencephaly, Agyria, Pachygyria |
OMIM:300067 |
| Periventricular Nodular Heterotopia 1 |
|
Patent ductus arteriosus, Gray matter heterotopia, Abnormality of neuronal migration, Cerebral he... |
OMIM:300049 |
| Subependymal Nodular Heterotopia |
|
Meningocele, Gray matter heterotopia, Myelomeningocele, Abnormality of neuronal migration, Occipi... |
ORPHA:101030 |
| Alkuraya-Kucinskas Syndrome |
|
Gray matter heterotopia, Pericardial effusion, Hydrocephalus, Lissencephaly, Pleural effusion, Edema |
OMIM:617822 |
| Congenital Tricuspid Valve Dysplasia |
|
Patent foramen ovale, Cardiomegaly, Pericardial effusion, Abnormal tricuspid valve leaflet morpho... |
ORPHA:555874 |
| Congenital Enterovirus Infection |
|
Leukopenia, Anemia, Polyhydramnios, Hydrops fetalis, Neutropenia, Abnormal macrophage morphology,... |
ORPHA:292 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Spinal cord compression, Myelopathy |
OMIM:602475 |
| Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Pericardial effusion, Pancytopenia, Autoimmune thrombocytopenia, Pleural effu... |
OMIM:613011 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Spina bifida, Anencephaly, Hypoplastic left heart, Ventricular septal defect |
ORPHA:2476 |
| Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Polyhydramnios, Pericardial effusion, Aortic aneurysm, Atrial septal defect, Multiple muscular ve... |
OMIM:620070 |
| Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia, Abnormality of neuronal migration, Intrauterine growth retardation |
ORPHA:1980 |
| Thanatophoric Dysplasia Type 2 |
|
Patent ductus arteriosus, Polyhydramnios, Encephalocele, Abnormality of neuronal migration, Hydro... |
ORPHA:93274 |
| Lymphatic Malformation 9 |
|
Predominantly lower limb lymphedema |
OMIM:619319 |
| Lymphatic Malformation 10 |
|
Lymphedema |
OMIM:619369 |
| Hypocomplementemic Urticarial Vasculitis |
|
Angioedema, Small vessel vasculitis, Pericardial effusion, Abnormal heart valve morphology, Pleur... |
ORPHA:36412 |
| Primary Intestinal Lymphangiectasia |
|
Anemia, Reduced proportion of CD4+ effector memory T cells, Pericardial effusion, Lymphopenia, Pl... |
ORPHA:90362 |
| Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Gray matter heterotopia, Abnormality of neuronal migration, Simplified gyral pattern, Lissencepha... |
OMIM:604317 |
| Deafness, Unilateral, With Delayed Endolymphatic Hydrops |
|
Edema |
OMIM:612097 |
| Drug-Induced Lupus Erythematosus |
|
Pericardial effusion, Thrombocytopenia, Pericarditis, Anemia |
ORPHA:231111 |
| Lissencephaly 5 |
|
Gray matter heterotopia, Hydrocephalus, Type II lissencephaly, Subcortical band heterotopia, Occi... |
OMIM:615191 |
| Lymphedema And Cerebral Arteriovenous Anomaly |
|
Lymphedema |
OMIM:152900 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Polyhydramnios, Gray matter heterotopia, Vascular dilatation, Ventricular septal defect, Hydrocep... |
OMIM:219730 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Patent foramen ovale, Abnormality of neuronal migration, 4-layered lissencephaly, Atrial septal d... |
ORPHA:89844 |
| Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies |
|
Neonatal death, Abnormal cortical gyration, Polymicrogyria |
OMIM:619602 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Hypoplastic left heart, Abnormality of neuronal migration, Intrauterine growth retardation, Ventr... |
ORPHA:2772 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Pulmonary edema, Pericardial effusion, Hydrocephalus, Pleural effusion, Hypertrophic cardiomyopat... |
OMIM:261740 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Pleural effusion |
ORPHA:411703 |
| Gaucher Disease Type 1 |
|
Leukopenia, Anemia, Pedal edema, Pericardial effusion, Hypersplenism, Pancytopenia, Ascites, Thro... |
ORPHA:77259 |
| Symmetrical Thalamic Calcifications |
|
Polyhydramnios, Abnormality of neuronal migration |
ORPHA:1314 |
| Band Heterotopia |
|
Gray matter heterotopia, Hydrocephalus, Subcortical band heterotopia, Polymicrogyria |
OMIM:600348 |
| Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
| Maternal Hyperthermia-Induced Birth Defects |
|
Abnormality of neuronal migration, Intrauterine growth retardation |
ORPHA:2216 |
| Thanatophoric Dysplasia |
|
Patent ductus arteriosus, Polyhydramnios, Gray matter heterotopia, Hydrocephalus, Atrial septal d... |
ORPHA:2655 |
| Chiari Malformation Type Ii |
|
Gray matter heterotopia, Myelomeningocele, Spina bifida, Hydrocephalus, Syringomyelia, Cervical m... |
OMIM:207950 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Exencephaly, Encephalocele, Abnormality of neuronal migration, Abnormal cortical gyration, Macrog... |
ORPHA:2211 |
| Pediatric Systemic Lupus Erythematosus |
|
Leukopenia, Pericardial effusion, Microangiopathic hemolytic anemia, Lymphopenia, Pleural effusio... |
ORPHA:93552 |
| Cardiac-Urogenital Syndrome |
|
Patent ductus arteriosus, Cor triatrium sinister, Ventricular septal defect, Coronary sinus enlar... |
OMIM:618280 |
| Acute Interstitial Pneumonia |
|
Pericardial effusion, Reduced hematocrit, Pleural effusion, Peripheral edema |
ORPHA:79126 |
| Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Periventricular hetero... |
OMIM:618974 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
| Aicardi-Goutieres Syndrome 9 |
|
Anemia, Hemolytic anemia, Pericardial effusion, Left ventricular hypertrophy, Hepatosplenomegaly,... |
OMIM:619487 |
| Q Fever |
|
Endocarditis, Splenomegaly, Anemia, Pericardial effusion, Hepatosplenomegaly, Pericarditis, Pleur... |
ORPHA:781 |
| Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Pericardial effusion, Cardiomyopathy |
OMIM:620089 |
| Juvenile Idiopathic Arthritis |
|
Pericardial effusion, Joint swelling, Splenomegaly |
ORPHA:92 |
| Leber Congenital Amaurosis |
|
Encephalocele, Abnormality of neuronal migration |
ORPHA:65 |
| Cardiomyopathy, Dilated, 1A |
|
Pericardial effusion, Dilated cardiomyopathy |
OMIM:115200 |
| Periventricular Nodular Heterotopia |
|
Patent ductus arteriosus, Aortic aneurysm, Abnormal heart valve morphology, Periventricular heter... |
ORPHA:98892 |
| Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Edema |
OMIM:610158 |
| Pulmonary Capillary Hemangiomatosis |
|
Pedal edema, Pulmonary edema, Pericardial effusion, Pleural effusion, Abnormal pulmonary vein mor... |
ORPHA:199241 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Patent foramen ovale, Ventricular septal defect, Pericardial effusion, Dilated cardiomyopathy, At... |
ORPHA:26793 |
| Dysplastic Cortical Hyperostosis |
|
Polyhydramnios, Abnormality of neuronal migration, Hydrops fetalis, Splenomegaly |
ORPHA:2204 |
| Optic Nerve Hypoplasia, Bilateral |
|
Remnants of the hyaloid vascular system, Optic nerve aplasia, Optic nerve hypoplasia |
OMIM:165550 |
| Kaposiform Lymphangiomatosis |
|
Anemia, Pericardial effusion, Epidural hemorrhage, Abnormal spleen morphology, Hepatosplenomegaly... |
ORPHA:464329 |
| Neurocutaneous Melanocytosis |
|
Meningocele, Intracranial hemorrhage, Abnormality of neuronal migration, Syringomyelia |
ORPHA:2481 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Pericardial effusion, Dilated cardiomyopathy, Abnormal myocardium morphology |
ORPHA:300751 |
| Yellow Nail Syndrome |
|
Predominantly lower limb lymphedema, Lymphedema |
OMIM:153300 |
| Progressive Supranuclear Palsy |
|
Falls, Impulsivity, Abnormal synaptic transmission, Dysphagia, Unsteady gait |
ORPHA:683 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Aortic root aneurysm, Carotid artery stenosis, Pericardial effusion, Mitral valve prolapse, Varic... |
ORPHA:536532 |
| Poems Syndrome |
|
Pericardial effusion, Polycythemia, Pleural effusion, Edema, Thrombocytosis, Ascites |
ORPHA:2905 |
| 3C Syndrome |
|
Atrioventricular canal defect, Ventricular septal defect, Abnormal mitral valve morphology, Abnor... |
ORPHA:7 |
| Gaucher Disease Type 3 |
|
Splenomegaly, Anemia, Hydrops fetalis, Pericardial effusion, Abnormal heart valve morphology, Pan... |
ORPHA:77261 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Pericardial effusion, Nonimmune hydrops fetalis, Pericarditis, Edema, Stroke-like episode, Thromb... |
OMIM:212065 |
| Mismatch Repair Cancer Syndrome 4 |
|
Gray matter heterotopia |
OMIM:619101 |
| Hennekam Syndrome |
|
Hydrops fetalis, Lymphedema, Pericardial effusion, Arteriovenous malformation, Pulmonary lymphang... |
ORPHA:2136 |
| Pseudo-Torch Syndrome 2 |
|
Patent ductus arteriosus, Gray matter heterotopia, Cerebral hemorrhage, Secundum atrial septal de... |
OMIM:617397 |
| Chédiak-Higashi Syndrome |
|
Anemia, Neutropenia, Pericardial effusion, Pancytopenia, Hepatosplenomegaly, Pleural effusion, Ed... |
ORPHA:167 |
| Desmosterolosis |
|
Patent ductus arteriosus, Abnormality of neuronal migration, Abnormal cortical gyration, Macrogyr... |
ORPHA:35107 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Right aortic arch, Hypoplastic pulmonary veins, Ventricular septal... |
OMIM:613854 |
| Pagod Syndrome |
|
Meningocele, Abnormal aortic morphology, Encephalocele, Abnormality of neuronal migration, Spina ... |
ORPHA:991 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Cardiomyopathy, Gray matter heterotopia, Hydrocephalus, Type II lissencephaly, Occipital encephal... |
ORPHA:370959 |
| Periventricular Nodular Heterotopia 7 |
|
Gray matter heterotopia, Ventricular septal defect, Periventricular nodular heterotopia, Polymicr... |
OMIM:617201 |
| Lymphangiectasia, Pulmonary, Congenital |
|
Polyhydramnios, Pedal edema, Nonimmune hydrops fetalis, Pleural effusion, Edema, Chylous ascites,... |
OMIM:265300 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyhydramnios, Pericardial effusion, Pleural effusion, Anasarca, Ascites |
OMIM:618183 |
| Joubert Syndrome |
|
Encephalocele, Abnormality of neuronal migration, Hydrocephalus, Situs inversus totalis, Polymicr... |
ORPHA:475 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Periventricular heterotopia, Simplified gyral pattern, Intrauterine growth retardation |
OMIM:616171 |
| Alg9-Cdg |
|
Hydrops fetalis, Ventricular septal defect, Pericardial effusion, Abnormal left ventricular outfl... |
ORPHA:79328 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Gray matter heterotopia, Perisylvian polymicrogyria, Lissencephaly, Pachygyria, Polymicrogyria |
ORPHA:300573 |
| Hemimegalencephaly |
|
Gray matter heterotopia, Pachygyria, Polymicrogyria |
ORPHA:99802 |
| Aicardi-Goutieres Syndrome 7 |
|
Splenomegaly, Anemia, Hemolytic anemia, Pericardial effusion, Pancytopenia, Oligohydramnios, Hype... |
OMIM:615846 |
| Brain Small Vessel Disease 2 |
|
Subcortical heterotopia, Intracranial hemorrhage, Polymicrogyria |
OMIM:614483 |
| Aymé-Gripp Syndrome |
|
Pericardial effusion, Hydrocephalus, Pericarditis, Patent ductus arteriosus |
ORPHA:1272 |
| Oculocerebrocutaneous Syndrome |
|
Gray matter heterotopia, Orbital encephalocele |
OMIM:164180 |
| 9Q21.13 Microdeletion Syndrome |
|
Gray matter heterotopia, Abnormal heart morphology, Syringomyelia |
ORPHA:531151 |
| 3-Hydroxyisobutyric Aciduria |
|
Abnormality of neuronal migration |
OMIM:236795 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response, Frontal polymicrogyria |
OMIM:300607 |
| Thanatophoric Dysplasia Type 1 |
|
Patent ductus arteriosus, Polyhydramnios, Gray matter heterotopia, Hydrocephalus, Atrial septal d... |
ORPHA:1860 |
| Lymphangioleiomyomatosis |
|
Lymphedema, Hydrocephalus, Chylopericardium, Chylothorax, Ascites, Pulmonary lymphangiomyomatosis |
ORPHA:538 |
| Coloboma, Ocular, Autosomal Dominant |
|
Remnants of the hyaloid vascular system, Optic disc coloboma, Optic nerve aplasia, Chorioretinal ... |
OMIM:120200 |
| Congenital Muscular Dystrophy Without Intellectual Disability |
|
Gray matter heterotopia, Pachygyria |
ORPHA:370980 |
| Lissencephaly 6 With Microcephaly |
|
Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Microlissencephaly, Pachygy... |
OMIM:616212 |
| Holoprosencephaly 14 |
|
Double outlet right ventricle, Aortic valve atresia, Gray matter heterotopia, Aqueductal stenosis... |
OMIM:619895 |
| Myhre Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Pericardial effusion, Atrial septal defect, ... |
OMIM:139210 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus, Abnormality of neuronal migration |
ORPHA:1895 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Atrioventricular canal defect, Gray matter heterotopia, Ascending tubular aorta aneurysm, Branchi... |
ORPHA:453499 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Abnormal spinal cord morphology, Hydrocephalus |
ORPHA:99947 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Abnormality of neuronal migration, Pachygyria |
OMIM:608840 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Gray matter heterotopia, Subcortical heterotopia, Encephalocele, Agyria, Hydrocephalus, Lissencep... |
OMIM:614643 |
| Fragile X Syndrome |
|
Mitral valve prolapse, Periventricular heterotopia |
OMIM:300624 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Left superior ven... |
OMIM:619702 |
| Walker-Warburg Syndrome |
|
Abnormality of neuronal migration, Abnormal cortical gyration, Macrogyria, Hydrocephalus, Lissenc... |
ORPHA:899 |
| 16P13.11 Microdeletion Syndrome |
|
Holoprosencephaly, Abnormality of neuronal migration, Ventricular septal defect, Atrial septal de... |
ORPHA:261236 |
| Neu-Laxova Syndrome |
|
Polyhydramnios, Abnormality of neuronal migration, Abnormal cortical gyration, Spina bifida, Macr... |
ORPHA:2671 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
| Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Patent ductus arteriosus, Gray matter heterotopia, Ventricular septal defect, Coronary artery fis... |
OMIM:620024 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Periventricular hetero... |
OMIM:618870 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Abnormality of neuronal migration, Hydrocephalus, Polymicrogyria, Pachygyria, Cardiomegaly, Abnor... |
ORPHA:228308 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Cardiomyopathy, Abnormality of neuronal migration, Hydrocephalus, Pachygyria, Polymicrogyria |
ORPHA:157 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Polyhydramnios, Hydrops fetalis, Arterial calcification, Abnormal retina... |
ORPHA:51608 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Simplified gyral pattern, Gray matter heterotopia, Communicating hydrocephalus, Lissencephaly |
OMIM:615219 |
| Autosomal Recessive Primary Microcephaly |
|
Gray matter heterotopia, Pachygyria |
ORPHA:2512 |
| Holoprosencephaly |
|
Abnormal aortic morphology, Spinal dysraphism, Encephalocele, Branchial anomaly, Ventricular sept... |
ORPHA:2162 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Pericardial effusion, Dilated cardiomyopathy, Pulmonary edema |
ORPHA:73224 |
| Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system |
OMIM:257910 |
| Limb Body Wall Complex |
|
Myelomeningocele, Encephalocele, Ventricular septal defect, Spina bifida, Short umbilical cord, A... |
ORPHA:2369 |
| Glutathionuria |
|
Gray matter heterotopia |
OMIM:231950 |
| Thanatophoric Dysplasia, Type I |
|
Polyhydramnios, Gray matter heterotopia, Hydrocephalus, Neonatal death |
OMIM:187600 |
| Joubert Syndrome With Oculorenal Defect |
|
Hydrocephalus, Encephalocele, Abnormality of neuronal migration |
ORPHA:2318 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Exaggerated startle response, Blepharospasm, Limb dystonia, Torticollis, Choreoathetosis, Oculogy... |
OMIM:608643 |
| Hydrolethalus Syndrome 1 |
|
Polyhydramnios, Gray matter heterotopia, Ventricular septal defect, Abnormal cortical gyration, A... |
OMIM:236680 |
| Crimean-Congo Hemorrhagic Fever |
|
Leukopenia, Pericardial effusion, Neutrophilia, Pancytopenia, Subdural hemorrhage, Leukocytosis, ... |
ORPHA:99827 |
| Gitelman Syndrome |
|
Pericardial effusion, Iron deficiency anemia, Varicose veins |
ORPHA:358 |
| Hypomelanosis Of Ito |
|
Gray matter heterotopia |
OMIM:300337 |
| Galloway-Mowat Syndrome |
|
Abnormality of neuronal migration, Intrauterine growth retardation, Aqueductal stenosis, Pachygyria |
ORPHA:2065 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Antenatal intracerebral hemorrhage, Abnormality of neuronal migration, Dilated cardiomyopathy, Ol... |
OMIM:608836 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Atrioventricular canal defect, Dextrocardia, Periventricular heterotopia, Coarctation of aorta |
OMIM:618929 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Gray matter heterotopia |
OMIM:619694 |
| Miller-Dieker Lissencephaly Syndrome |
|
Polyhydramnios, Gray matter heterotopia, Agyria, Lissencephaly, Abnormal heart morphology, Pachyg... |
OMIM:247200 |
| Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Simplified gyral pattern, Periventricular heterotopia |
OMIM:618273 |
| Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
| Sarcoidosis, Susceptibility To, 1 |
|
Pericardial effusion, Pleural effusion, Splenomegaly, Pancytopenia |
OMIM:181000 |
| Tetrasomy 18P |
|
Abnormality of neuronal migration |
ORPHA:3307 |
| Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
| Radio-Tartaglia Syndrome |
|
Gray matter heterotopia, Ventricular septal defect |
OMIM:619312 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Periventricular heterotopia, Polyhydramnios, Hydrocephalus, Intrauterine growth retardation |
OMIM:619833 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
| Spinal Arteriovenous Metameric Syndrome |
|
Arteriovenous malformation, Abnormal spinal cord morphology, Spinal arteriovenous malformation |
ORPHA:53721 |
| Koolen-De Vries Syndrome |
|
Patent ductus arteriosus, Aortic root aneurysm, Gray matter heterotopia, Ventricular septal defec... |
OMIM:610443 |
| Neonatal Adrenoleukodystrophy |
|
Abnormality of neuronal migration |
ORPHA:44 |
| Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Abnormal spinal cord morphology |
ORPHA:139578 |
| Vici Syndrome |
|
Gray matter heterotopia, Cardiomyopathy |
ORPHA:1493 |
| Coffin-Lowry Syndrome |
|
Abnormal aortic valve morphology, Abnormal tricuspid valve morphology, Abnormality of neuronal mi... |
ORPHA:192 |
| Tsh-Secreting Pituitary Adenoma |
|
Pericardial effusion |
ORPHA:91347 |
| Cerebral Palsy, Spastic Quadriplegic, 3 |
|
Gray matter heterotopia |
OMIM:617008 |
| Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
| Bohring-Opitz Syndrome |
|
Polyhydramnios, Gray matter heterotopia, Ventricular septal defect, Atrial septal defect, Intraut... |
OMIM:605039 |
| Keratoderma Hereditarium Mutilans |
|
Abnormal spinal cord morphology |
ORPHA:494 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Abnormality of neuronal migration |
OMIM:300957 |
| Orofaciodigital Syndrome Vi |
|
Arrhinencephaly, Periventricular nodular heterotopia, Coarctation of aorta, Hypoplastic left hear... |
OMIM:277170 |
| Orofaciodigital Syndrome I |
|
Gray matter heterotopia, Vascular dilatation, Myelomeningocele, Abnormal cortical gyration, Hydro... |
OMIM:311200 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Holoprosencephaly, Overriding aorta, Tetralogy of Fallot, Abnormality of neuronal migration |
ORPHA:3186 |
| Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Patent ductus arteriosus, Bicuspid aortic valve, Mitral valve prolapse, Periventricular nodular h... |
ORPHA:555877 |
| Poretti-Boltshauser Syndrome |
|
Gray matter heterotopia |
OMIM:615960 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Gray matter heterotopia, Abnormal heart morphology, Cardiomyopathy |
ORPHA:26791 |
| Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
ORPHA:309246 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Gray matter heterotopia, Hydromyelia, Anencephaly, Hydrocephalus, Communicating hydrocephalus, Ty... |
OMIM:615287 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Patent ductus arteriosus, Polyhydramnios, Abnormality of neuronal migration, Ventricular septal d... |
ORPHA:464311 |
| Cerebrofacioarticular Syndrome |
|
Pulmonic stenosis, Gray matter heterotopia, Abnormal heart morphology, Lymphedema |
ORPHA:314679 |
| Joubert Syndrome 30 |
|
Gray matter heterotopia |
OMIM:617622 |
| 16Q24.3 Microdeletion Syndrome |
|
Periventricular heterotopia, Ventricular septal defect, Dilated cardiomyopathy, Increased mean co... |
ORPHA:261250 |
| Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Abnormality of neuronal migration, Intrauterine growth retardation |
ORPHA:2518 |
| Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Hydrocephalus, Splenomegaly, Abnormality of neuronal migration |
ORPHA:1454 |
| Solitary Bone Cyst |
|
Abnormal spinal cord morphology, Muscular edema |
ORPHA:83468 |
| Persistent Hyperplastic Primary Vitreous |
|
Tractional retinal detachment, Remnants of the hyaloid vascular system, Hyaloid vascular remnant ... |
ORPHA:91495 |
| Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
| Asparagine Synthetase Deficiency |
|
Simplified gyral pattern, Exaggerated startle response |
OMIM:615574 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Agyria, Lissencephaly, Type II lissencephaly, Pachygyria, Polymicro... |
OMIM:253800 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Patent ductus arteriosus, Gray matter heterotopia, Ventricular septal defect, Polymicrogyria |
OMIM:214100 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
| Opitz-Kaveggia Syndrome |
|
Gray matter heterotopia, Hydrocephalus, Abnormal heart morphology, Umbilical hernia |
OMIM:305450 |
| Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response |
ORPHA:320406 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Patent foramen ovale, Gray matter heterotopia, Ventricular septal defect, Abnormal cortical gyrat... |
OMIM:210710 |
| Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Periventricular heterotopia, Intrauterine growth retardation, Pachygyria |
ORPHA:255138 |
| Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Truncal titubation, Exaggerated startle response, Tremor |
OMIM:618056 |
| Orofaciodigital Syndrome Type 6 |
|
Abnormality of neuronal migration, Abnormal heart morphology |
ORPHA:2754 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
| Fontaine Progeroid Syndrome |
|
Patent ductus arteriosus, Gray matter heterotopia, Periventricular heterotopia, Bicuspid aortic v... |
OMIM:612289 |
| Stiff-Person Syndrome |
|
Exaggerated startle response, Opisthotonus |
OMIM:184850 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Gray matter heterotopia, Branchial anomaly, Ventricular septal defect, Bicuspid aortic valve, Aor... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Gray matter heterotopia, Branchial anomaly, Ventricular septal defect, Bicuspid aortic valve, Aor... |
ORPHA:352665 |
| Orofaciodigital Syndrome Xiv |
|
Patent ductus arteriosus, Ventricular septal defect, Periventricular heterotopia, Simplified gyra... |
OMIM:615948 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response |
OMIM:620114 |
| Tetrasomy 9P |
|
Juxtaductal coarctation of the aorta, Patent foramen ovale, Abnormal cardiac septum morphology, A... |
ORPHA:3310 |
| Acromelic Frontonasal Dysostosis |
|
Gray matter heterotopia, Encephalocele, Periventricular nodular heterotopia, Dilation of Virchow-... |
OMIM:603671 |
| Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
OMIM:272750 |
| Vici Syndrome |
|
Leukopenia, Gray matter heterotopia, T lymphocytopenia, Left ventricular hypertrophy, Dilated car... |
OMIM:242840 |
| Van Maldergem Syndrome 1 |
|
Gray matter heterotopia, Simplified gyral pattern, Periventricular nodular heterotopia, Subcortic... |
OMIM:601390 |
| Man1B1-Cdg |
|
Periventricular heterotopia |
ORPHA:397941 |
| Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormality of neuronal migration |
ORPHA:2063 |
| Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Gray matter heterotopia, Neonatal death, Polymicrogyria |
OMIM:614887 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
| Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Abnormal spinal cord morphology, Myelopathy |
ORPHA:139396 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response |
OMIM:616881 |
| Mosaic Trisomy 20 |
|
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal spinal cord morphology, Dys... |
ORPHA:1724 |
| Pierson Syndrome |
|
Retinal hemorrhage, Posterior lenticonus, Remnants of the hyaloid vascular system, Hypoproteinemi... |
OMIM:609049 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Periventricular heterotopia |
OMIM:614105 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Retinal nonattachment, Iris coloboma, Remnants of the hyaloid vascular system |
OMIM:221900 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, Dystonia |
ORPHA:438216 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Hydrocephalus, Periventricular heterotopia |
OMIM:618476 |
| Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Remnants of the hyaloid vascular system |
ORPHA:2714 |
| Aicardi Syndrome |
|
Spina bifida, Gray matter heterotopia, Pachygyria, Polymicrogyria |
OMIM:304050 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Dystonia, Abnormal cortical gyration |
ORPHA:521426 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Lobar holoprosencephaly, Pa... |
ORPHA:468631 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response |
OMIM:617864 |
| Alg11-Cdg |
|
Gray matter heterotopia |
ORPHA:280071 |
| Superficial Siderosis |
|
Abnormal vertebral artery morphology, Arteriovenous malformation, Abnormal spinal cord morphology... |
ORPHA:247245 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Abnormality of neuronal migration |
ORPHA:163681 |
| Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Gray matter heterotopia |
OMIM:618797 |
| Tay-Sachs Disease |
|
Exaggerated startle response, Tremor, Dystonia, Laryngeal dystonia |
ORPHA:845 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Abnormal cortical gyration |
OMIM:617527 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
| Van Maldergem Syndrome 2 |
|
Gray matter heterotopia, Subcortical band heterotopia, Periventricular nodular heterotopia |
OMIM:615546 |
| Congenital Disorder Of Deglycosylation 2 |
|
Gray matter heterotopia, Polymicrogyria |
OMIM:619775 |
| Sandhoff Disease |
|
Exaggerated startle response |
OMIM:268800 |
| Acute Disseminated Encephalomyelitis |
|
Abnormal spinal cord morphology, Cerebral edema, Myelitis |
ORPHA:83597 |
| Arima Syndrome |
|
Gray matter heterotopia, Occipital meningocele, Anemia |
OMIM:243910 |
| Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Gray matter heterotopia |
OMIM:608624 |
| Smith-Lemli-Opitz Syndrome |
|
Patent ductus arteriosus, Splenomegaly, Ventricular septal defect, Periventricular heterotopia, H... |
OMIM:270400 |
| Pmm2-Cdg |
|
Lymphedema, Pericardial effusion, Impaired neutrophil chemotaxis, Intracranial hemorrhage, Perica... |
ORPHA:79318 |
| Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Dystonia |
ORPHA:79255 |
| Orofaciodigital Syndrome Xvi |
|
Gray matter heterotopia |
OMIM:617563 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Abnormal spinal cord morphology |
ORPHA:88628 |
| Bilateral Perisylvian Polymicrogyria |
|
Abnormality of neuronal migration, Bilateral perisylvian polymicrogyria, Intrauterine growth reta... |
ORPHA:98889 |
| 6Q Terminal Deletion Syndrome |
|
Periventricular heterotopia, Gray matter heterotopia, Abnormality of neuronal migration, Polymicr... |
ORPHA:75857 |
| Amoebiasis Due To Free-Living Amoebae |
|
Abnormal spinal cord morphology, Cerebral edema, Myocardial necrosis, Increased red blood cell count |
ORPHA:68 |
| Adrenomyeloneuropathy |
|
Abnormal spinal cord morphology, Dorsal column degeneration, Atrophy of the spinal cord |
ORPHA:139399 |
| Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Abnormality of neuronal migration, Autoimmune hemolytic anemia, Thrombocytopeni... |
ORPHA:647 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Gray matter heterotopia, Holoprosencephaly, Polymicrogyria |
OMIM:618820 |
| Orofaciodigital Syndrome Type 14 |
|
Patent ductus arteriosus, Ventricular septal defect, Periventricular heterotopia |
ORPHA:434179 |
| Full Nf2-Related Schwannomatosis |
|
Remnants of the hyaloid vascular system |
ORPHA:637 |
| Primary Sjögren Syndrome |
|
Leukopenia, Normocytic anemia, Abnormal spinal cord morphology, Arteritis, Lymphopenia, Xerostomi... |
ORPHA:289390 |
| Holoprosencephaly 2 |
|
Iris coloboma, Cyclopia, Chorioretinal coloboma, Remnants of the hyaloid vascular system |
OMIM:157170 |
| Periventricular Nodular Heterotopia 9 |
|
Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria |
OMIM:618918 |
| Neuromuscular Oculoauditory Syndrome |
|
Periventricular heterotopia |
OMIM:618733 |
| Mismatch Repair Cancer Syndrome 1 |
|
Gray matter heterotopia, Leukemia |
OMIM:276300 |
| Microphthalmia, Syndromic 2 |
|
Retinal detachment, Iris coloboma, Remnants of the hyaloid vascular system |
OMIM:300166 |
| Proteus Syndrome |
|
Gray matter heterotopia, Lymphedema, Arteriovenous malformation, Sirenomelia, Thymus hyperplasia,... |
ORPHA:744 |
| Genitopatellar Syndrome |
|
Polyhydramnios, Periventricular heterotopia, Ventricular septal defect, Atrial septal defect, Pac... |
OMIM:606170 |
| Neuroocular Syndrome |
|
Remnants of the hyaloid vascular system, Iris coloboma, Lens coloboma |
OMIM:619539 |
| Norrie Disease |
|
Retinal detachment, Remnants of the hyaloid vascular system, Optic atrophy |
ORPHA:649 |
| Mowat-Wilson Syndrome |
|
Patent ductus arteriosus, Asplenia, Periventricular heterotopia, Abnormal cardiac septum morpholo... |
ORPHA:2152 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Patent ductus arteriosus, Asplenia, Ventricular septal defect, Periventricular heterotopia, Bicus... |
ORPHA:261552 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Asplenia, Periventricular heterotopia, Bicuspid aortic valve, Coarctation of aorta, Pulmonary art... |
ORPHA:261537 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Exaggerated startle response, Dystonia |
ORPHA:438213 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response |
OMIM:619522 |
