| Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Edema |
OMIM:613267 |
| Lipedema |
|
Edema |
OMIM:614103 |
| Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
| Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
| Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated circulating creatine kinase concentration |
ORPHA:206599 |
| Angioedema, Hereditary, 6 |
|
Edema of the dorsum of hands, Facial edema, Angioedema |
OMIM:619363 |
| Lymphatic Malformation 11 |
|
Pedal edema, Lymphedema |
OMIM:619401 |
| Pentosuria |
|
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration |
ORPHA:2843 |
| Kaposi Sarcoma, Susceptibility To |
|
Edema |
OMIM:148000 |
| Lymphatic Malformation 2 |
|
Lymphedema |
OMIM:611944 |
| Angioedema, Hereditary, 5 |
|
Edema of the dorsum of hands, Facial edema, Angioedema |
OMIM:619361 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
| Angioedema, Hereditary, 8 |
|
Edema of the dorsum of hands, Laryngeal edema, Facial edema, Angioedema |
OMIM:619367 |
| Nephrosialidosis |
|
Bone-marrow foam cells, Pericardial effusion, Ascites |
OMIM:256150 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Subcortical band heterotopia, Intrauterine growth retardation, Pachygyria, Agyria, Gray matter he... |
OMIM:615411 |
| Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Edema, Pulmonary edema |
OMIM:178400 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome |
|
Lymphedema |
ORPHA:69061 |
| Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Pericardial effusion, Edema, Anemia, Facial edema, Varicose veins, Atr... |
OMIM:617300 |
| Lymphedema-Cerebral Arteriovenous Anomaly Syndrome |
|
Lymphedema |
ORPHA:86914 |
| Edema, Familial Idiopathic, Prepubertal |
|
Edema |
OMIM:129840 |
| Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Abnormality of neuronal migration, Simplified gyral pattern, Pachygyria, Polymicrogyria, Gray mat... |
OMIM:604317 |
| Polyhydramnios, Chronic Idiopathic |
|
Polyhydramnios |
OMIM:263610 |
| Pericardial Effusion, Chronic |
|
Polycythemia, Constrictive pericarditis, Retinal arteriolar tortuosity, Pericardial effusion |
OMIM:260900 |
| Chilblain Lupus 2 |
|
Edema |
OMIM:614415 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 4 |
|
Gray matter heterotopia, Pachygyria, Subcortical band heterotopia, Agyria |
OMIM:615412 |
| Lissencephaly 1 |
|
Subcortical band heterotopia, Pachygyria, Agyria, Gray matter heterotopia, Lissencephaly |
OMIM:607432 |
| Periventricular Nodular Heterotopia 1 |
|
Abnormality of neuronal migration, Bicuspid aortic valve, Gray matter heterotopia, Patent ductus ... |
OMIM:300049 |
| Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema |
OMIM:613611 |
| Primary Effusion Lymphoma |
|
Pleural effusion, Pericardial effusion |
ORPHA:48686 |
| Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Pericardial effusion, Stillbirth, Polyhydramnios, Pleural effusion, Ge... |
OMIM:618773 |
| Macular Dystrophy, Dominant Cystoid |
|
Edema, Cystoid macular edema |
OMIM:153880 |
| Band Heterotopia |
|
Gray matter heterotopia, Subcortical band heterotopia, Hydrocephalus, Polymicrogyria |
OMIM:600348 |
| Lymphatic Malformation 3 |
|
Lymphedema |
OMIM:613480 |
| Cantu Syndrome |
|
Bicuspid aortic valve, Pericardial effusion, Cardiomegaly, Patent ductus arteriosus, Congenital h... |
OMIM:239850 |
| Periventricular Nodular Heterotopia 6 |
|
Periventricular nodular heterotopia, Gray matter heterotopia |
OMIM:615544 |
| Microlissencephaly |
|
Periventricular heterotopia, Simplified gyral pattern, Pachygyria, Polymicrogyria, Subcortical he... |
ORPHA:1083 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormality of neuronal migration, Hydrocephalus |
OMIM:618709 |
| Glaucoma 3, Primary Congenital, E |
|
Edema |
OMIM:617272 |
| Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death |
OMIM:611369 |
| Chudley-Mccullough Syndrome |
|
Gray matter heterotopia, Hydrocephalus, Polymicrogyria |
OMIM:604213 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Posterior lenticonus, Chorioretinal coloboma, Iris coloboma |
ORPHA:231736 |
| White Sponge Nevus 2 |
|
Edema |
OMIM:615785 |
| Acalvaria |
|
Holoprosencephaly, Abnormality of neuronal migration, Spina bifida, Hydrocephalus |
ORPHA:945 |
| Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Gray matter heterotopia, Pachygyria, Agyria |
ORPHA:1084 |
| Alkuraya-Kucinskas Syndrome |
|
Pericardial effusion, Edema, Hydrocephalus, Gray matter heterotopia, Lissencephaly |
OMIM:617822 |
| Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Pericardial effusion, Ascites, Abnormal heart morphology, Polyhydramni... |
ORPHA:1041 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Intrauterine growth retardation, Pericard... |
OMIM:618775 |
| Congenital Pulmonary Lymphangiectasia |
|
Chylopericardium, Ascites, Splenomegaly, Pulmonic stenosis, Pleural effusion, Hydrops fetalis |
ORPHA:2414 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Pericardial effusion, Ascites, Edema, Hepatosplenomegaly, Abnormal cardiac septum morphology |
OMIM:608776 |
| Lissencephaly 3 |
|
Pachygyria, Polymicrogyria, Agyria, Gray matter heterotopia, Lissencephaly |
OMIM:611603 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Nonimmune hydrops ... |
OMIM:619313 |
| Sub-Cortical Nodular Heterotopia |
|
Abnormality of neuronal migration, Polymicrogyria, Subcortical heterotopia |
ORPHA:101029 |
| Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Pericardial effusion, Edema, Coarctation of aor... |
ORPHA:363705 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Hypertrophic cardiomyopathy, Pericardial effusion, Ascites, Ventricular hypertrophy, Cardiomegaly... |
OMIM:115197 |
| Nodular Neuronal Heterotopia |
|
Abnormality of neuronal migration |
ORPHA:2149 |
| Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
|
Periventricular nodular heterotopia, Periventricular heterotopia |
OMIM:608097 |
| Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Pericardial effusion |
OMIM:614684 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Lymphedema, Ventricular septal defect, Pericardial effusion, Thyroid lymphangiectasia, Intestinal... |
OMIM:235510 |
| Lissencephaly, X-Linked, 1 |
|
Gray matter heterotopia, Pachygyria, Lissencephaly, Agyria |
OMIM:300067 |
| Congenital Tricuspid Valve Dysplasia |
|
Intrauterine growth retardation, Pericardial effusion, Right ventricular hypertrophy, Cardiomegal... |
ORPHA:555874 |
| Bilateral Striopallidodentate Calcinosis |
|
Abnormality of neuronal migration, Thrombocytopenia, Intrauterine growth retardation |
ORPHA:1980 |
| Congenital Enterovirus Infection |
|
Myocarditis, Leukocytosis, Fetal ascites, Neutropenia, Pericardial effusion, Leukopenia, Anemia, ... |
ORPHA:292 |
| Periventricular Nodular Heterotopia 7 |
|
Periventricular nodular heterotopia, Gray matter heterotopia |
OMIM:617201 |
| Lymphatic Malformation 9 |
|
Predominantly lower limb lymphedema |
OMIM:619319 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Gray matter heterotopia, Type II lissencephaly, Hydrocephalus, Dysgyria |
ORPHA:352682 |
| Deafness, Unilateral, With Delayed Endolymphatic Hydrops |
|
Edema |
OMIM:612097 |
| Lymphoproliferative Syndrome 1 |
|
Pericardial effusion, Leukopenia, Anemia, Splenomegaly, Autoimmune thrombocytopenia, Decreased pr... |
OMIM:613011 |
| Lymphedema And Cerebral Arteriovenous Anomaly |
|
Lymphedema |
OMIM:152900 |
| Hypocomplementemic Urticarial Vasculitis |
|
Pericardial effusion, Ascites, Angioedema, Splenomegaly, Abnormal heart valve morphology, Small v... |
ORPHA:36412 |
| Drug-Induced Lupus Erythematosus |
|
Anemia, Thrombocytopenia, Pericarditis, Pericardial effusion |
ORPHA:231111 |
| Lymphatic Malformation 10 |
|
Lymphedema |
OMIM:619369 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
| Primary Intestinal Lymphangiectasia |
|
Pericardial effusion, Abnormal lymphatic vessel morphology, Ascites, Edema, Anemia, Intestinal ly... |
ORPHA:90362 |
| Thanatophoric Dysplasia Type 2 |
|
Abnormality of neuronal migration, Holoprosencephaly, Patent ductus arteriosus, Polyhydramnios, I... |
ORPHA:93274 |
| Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies |
|
Abnormal cortical gyration, Neonatal death, Polymicrogyria |
OMIM:619602 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Ventricular septal defect, Polyhydramnios, Hydrocephalus, Vascular dilatation, Gray matter hetero... |
OMIM:219730 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Abnormality of neuronal migration, Ventricular septal defect, Hypoplastic left heart, Intrauterin... |
ORPHA:2772 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Abnormality of neuronal migration, Intrauterine growth retardation, Microlissencephaly, Atrial se... |
ORPHA:89844 |
| Subependymal Nodular Heterotopia |
|
Meningocele, Abnormality of neuronal migration, Myelomeningocele, Polymicrogyria, Gray matter het... |
ORPHA:101030 |
| Thanatophoric Dysplasia |
|
Intrauterine growth retardation, Patent ductus arteriosus, Polyhydramnios, Increased nuchal trans... |
ORPHA:2655 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pleural effusion, Pericardial effusion |
ORPHA:411703 |
| Gaucher Disease Type 1 |
|
Pericardial effusion, Leukopenia, Ascites, Anemia, Splenomegaly, Hypersplenism, Pancytopenia, Thr... |
ORPHA:77259 |
| Symmetrical Thalamic Calcifications |
|
Abnormality of neuronal migration, Polyhydramnios |
ORPHA:1314 |
| Chiari Malformation Type Ii |
|
Myelomeningocele, Syringomyelia, Cervical myelopathy, Spina bifida, Hydrocephalus, Gray matter he... |
OMIM:207950 |
| Maternal Hyperthermia-Induced Birth Defects |
|
Abnormality of neuronal migration, Intrauterine growth retardation |
ORPHA:2216 |
| Lissencephaly 5 |
|
Gray matter heterotopia, Subcortical band heterotopia, Hydrocephalus, Type II lissencephaly |
OMIM:615191 |
| Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
| Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus, Periventricular hetero... |
OMIM:618974 |
| Pediatric Systemic Lupus Erythematosus |
|
Pericardial effusion, Leukopenia, Microangiopathic hemolytic anemia, Ascites, Edema, Lymphopenia,... |
ORPHA:93552 |
| Progressive Supranuclear Palsy |
|
Dystonia, Dysphagia, Falls, Bradykinesia, Abnormal synaptic transmission, Unsteady gait, Blepharo... |
ORPHA:683 |
| Juvenile Idiopathic Arthritis |
|
Joint swelling, Pericardial effusion, Splenomegaly |
ORPHA:92 |
| Acute Interstitial Pneumonia |
|
Reduced hematocrit, Peripheral edema, Pleural effusion, Pericardial effusion |
ORPHA:79126 |
| Aicardi-Goutieres Syndrome 9 |
|
Pericarditis, Intrauterine growth retardation, Pericardial effusion, Ascites, Edema, Anemia, Left... |
OMIM:619487 |
| Q Fever |
|
Myocarditis, Abnormal vascular morphology, Pericarditis, Pericardial effusion, Endocarditis, Anem... |
ORPHA:781 |
| Pulmonary Capillary Hemangiomatosis |
|
Pericardial effusion, Abnormal pulmonary vein morphology, Pulmonary edema, Pedal edema, Pleural e... |
ORPHA:199241 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Edema, Polyhydramnios, Facial edema, Lymphedema |
OMIM:618154 |
| Periventricular Nodular Heterotopia |
|
Periventricular heterotopia, Abnormal heart valve morphology, Patent ductus arteriosus, Aortic an... |
ORPHA:98892 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Abnormality of neuronal migration, Abnormal cortical gyration, Pachygyria, Macrogyria, Exencephal... |
ORPHA:2211 |
| Dysplastic Cortical Hyperostosis |
|
Abnormality of neuronal migration, Hydrops fetalis, Polyhydramnios, Splenomegaly |
ORPHA:2204 |
| Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Pericardial effusion |
OMIM:115200 |
| Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Edema |
OMIM:610158 |
| 3C Syndrome |
|
Abnormality of neuronal migration, Ventricular septal defect, Abnormal mitral valve morphology, A... |
ORPHA:7 |
| Optic Nerve Hypoplasia, Bilateral |
|
Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Optic nerve aplasia |
OMIM:165550 |
| Gaucher Disease Type 3 |
|
Pericardial effusion, Mitral valve calcification, Anemia, Splenomegaly, Abnormal heart valve morp... |
ORPHA:77261 |
| Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Dilated cardiomyopathy, Abnormal myocardium morphology, Pericardial effusion |
ORPHA:300751 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Carotid artery stenosis, Mitral valve prolapse, Pericardial effusion, Aortic root aneurysm, Promi... |
ORPHA:536532 |
| Yellow Nail Syndrome |
|
Predominantly lower limb lymphedema, Lymphedema |
OMIM:153300 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Ventricular septal defect, Pericardial effusion, Atrial septal defect, Pa... |
ORPHA:26793 |
| Kaposiform Lymphangiomatosis |
|
Pericardial effusion, Abnormal lymphatic vessel morphology, Anemia, Abnormal spleen morphology, S... |
ORPHA:464329 |
| Mismatch Repair Cancer Syndrome 4 |
|
Gray matter heterotopia |
OMIM:619101 |
| Arteritis, Familial Granulomatous, With Juvenile Polyarthritis |
|
Granulomatous coronary arteritis, Vascular dilatation, Pericardial effusion, Pleural effusion |
OMIM:108050 |
| Poems Syndrome |
|
Thrombocytosis, Pericardial effusion, Ascites, Polycythemia, Edema, Pleural effusion |
ORPHA:2905 |
| Desmosterolosis |
|
Abnormality of neuronal migration, Abnormal cortical gyration, Intrauterine growth retardation, P... |
ORPHA:35107 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Chédiak-Higashi Syndrome |
|
Abnormal natural killer cell morphology, Neutropenia, Pericardial effusion, Thrombocytopenia, Vac... |
ORPHA:167 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Cardiomyopathy, Nonimmune hydrops fetalis, Pericardial effusion, Thrombocytosis |
OMIM:212065 |
| Hennekam Syndrome |
|
Pulmonary lymphangiectasia, Pericardial effusion, Ascites, Chylothorax, Splenomegaly, Pachygyria,... |
ORPHA:2136 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Complete atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle,... |
OMIM:613854 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Pericardial effusion, Ascites, Anasarca, Polyhydramnios, Pleural effusion |
OMIM:618183 |
| Hemimegalencephaly |
|
Gray matter heterotopia, Pachygyria, Polymicrogyria |
ORPHA:99802 |
| Lymphangiectasia, Pulmonary, Congenital |
|
Nonimmune hydrops fetalis, Ascites, Edema, Facial edema, Polyhydramnios, Palpebral edema, Pedal e... |
OMIM:265300 |
| Alg9-Cdg |
|
Ventricular septal defect, Right ventricular dilatation, Pericardial effusion, Abnormal renal art... |
ORPHA:79328 |
| Aymé-Gripp Syndrome |
|
Pericarditis, Hydrocephalus, Pericardial effusion, Patent ductus arteriosus |
ORPHA:1272 |
| Pagod Syndrome |
|
Meningocele, Abnormality of the spleen, Abnormal aortic morphology, Abnormality of neuronal migra... |
ORPHA:991 |
| Neurocutaneous Melanocytosis |
|
Meningocele, Abnormality of neuronal migration, Syringomyelia |
ORPHA:2481 |
| 9Q21.13 Microdeletion Syndrome |
|
Gray matter heterotopia, Abnormal heart morphology, Syringomyelia |
ORPHA:531151 |
| 3-Hydroxyisobutyric Aciduria |
|
Abnormality of neuronal migration |
OMIM:236795 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Perisylvian polymicrogyria, Pachygyria, Polymicrogyria, Gray matter heterotopia, Lissencephaly |
ORPHA:300573 |
| Thanatophoric Dysplasia Type 1 |
|
Patent ductus arteriosus, Polyhydramnios, Increased nuchal translucency, Atrial septal defect, Hy... |
ORPHA:1860 |
| Thanatophoric Dysplasia, Type I |
|
Gray matter heterotopia, Neonatal death, Hydrocephalus, Polyhydramnios |
OMIM:187600 |
| Congenital Muscular Dystrophy Without Intellectual Disability |
|
Gray matter heterotopia, Pachygyria |
ORPHA:370980 |
| Lymphangioleiomyomatosis |
|
Lymphedema, Chylopericardium, Ascites, Pulmonary lymphangiomyomatosis, Hydrocephalus, Chylothorax |
ORPHA:538 |
| Mental Retardation, Autosomal Dominant 13 |
|
Abnormality of neuronal migration, Pachygyria |
OMIM:614563 |
| Coloboma, Ocular, Autosomal Dominant |
|
Remnants of the hyaloid vascular system, Optic nerve aplasia, Chorioretinal coloboma, Optic disc ... |
OMIM:120200 |
| Joubert Syndrome |
|
Abnormality of neuronal migration, Situs inversus totalis, Hydrocephalus, Polymicrogyria |
ORPHA:475 |
| Edinburgh Malformation Syndrome |
|
Abnormality of neuronal migration, Hydrocephalus |
ORPHA:1895 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Cardiomyopathy, Polymicrogyria, Hydrocephalus, Gray matter heterotopia, Type II lissencephaly |
ORPHA:370959 |
| Right Atrial Isomerism |
|
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Right atrial iso... |
OMIM:208530 |
| Pseudo-Torch Syndrome 2 |
|
Ascites, Patent ductus arteriosus, Polymicrogyria, Gray matter heterotopia, Thrombocytopenia |
OMIM:617397 |
| Myhre Syndrome |
|
Ventricular septal defect, Intrauterine growth retardation, Pericardial effusion, Coarctation of ... |
OMIM:139210 |
| Fragile X Syndrome |
|
Mitral valve prolapse, Periventricular heterotopia |
OMIM:300624 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Abnormality of neuronal migration, Pachygyria |
OMIM:608840 |
| 16P13.11 Microdeletion Syndrome |
|
Holoprosencephaly, Abnormality of neuronal migration, Ventricular septal defect, Atrial septal de... |
ORPHA:261236 |
| Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Abnormality of neuronal migration |
OMIM:614887 |
| Lissencephaly 6 With Microcephaly |
|
Microlissencephaly, Periventricular heterotopia, Simplified gyral pattern, Pachygyria, Polymicrog... |
OMIM:616212 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Gray matter heterotopia, Type II lissencephaly, Hydrocephalus, Anencephaly |
OMIM:615287 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Ascending tubular aorta aneurysm, Intrauterine ... |
ORPHA:453499 |
| Neu-Laxova Syndrome |
|
Abnormality of neuronal migration, Abnormal cortical gyration, Intrauterine growth retardation, P... |
ORPHA:2671 |
| Walker-Warburg Syndrome |
|
Abnormality of neuronal migration, Abnormal cortical gyration, Pachygyria, Macrogyria, Hydrocepha... |
ORPHA:899 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Abnormality of neuronal migration, Cardiomegaly, Cardiomyopathy, Pachygyria, Hydrocephalus, Polym... |
ORPHA:228308 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Abnormality of neuronal migration, Cardiomyopathy, Pachygyria, Polymicrogyria, Hydrocephalus |
ORPHA:157 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Ventricular septal defect, Periventricular heterotopia, Patent ductus arteriosus, Increased nucha... |
OMIM:618870 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Abnormality of the spinal cord, Hydrocephalus |
ORPHA:99947 |
| Brain Small Vessel Disease 2 |
|
Subcortical heterotopia, Polymicrogyria |
OMIM:614483 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Gray matter heterotopia, Communicating hydrocephalus, Lissencephaly, Simplified gyral pattern |
OMIM:615219 |
| Tubular Renal Disease-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Pulmonary edema, Pericardial effusion |
ORPHA:73224 |
| Autosomal Recessive Primary Microcephaly |
|
Gray matter heterotopia, Pachygyria |
ORPHA:2512 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Lissencephaly, Pachygyria, Hydrocephalus, Polymicrogyria, Agyria, Subcortical heterotopia, Gray m... |
OMIM:614643 |
| Holoprosencephaly |
|
Abnormality of neuronal migration, Abnormality of the spleen, Ventricular septal defect, Abnormal... |
ORPHA:2162 |
| Orofaciodigital Syndrome I |
|
Abnormal cortical gyration, Myelomeningocele, Abnormal heart morphology, Hydrocephalus, Vascular ... |
OMIM:311200 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
| Lymphatic Malformation 6 |
|
Nonimmune hydrops fetalis, Ascites, Edema, Chylothorax, Facial edema, Genital edema, Polyhydramni... |
OMIM:616843 |
| Generalized Arterial Calcification Of Infancy |
|
Aortic dissection, Myocardial calcification, Pericardial effusion, Ascites, Ventricular hypertrop... |
ORPHA:51608 |
| Leber Congenital Amaurosis |
|
Abnormality of neuronal migration |
ORPHA:65 |
| Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
| Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system |
OMIM:257910 |
| Galloway-Mowat Syndrome |
|
Abnormality of neuronal migration, Pachygyria, Intrauterine growth retardation, Aqueductal stenosis |
ORPHA:2065 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Dilated cardiomyopathy, Abnormality of neuronal migration, Cardiomegaly, Oligohydramnios, Polymic... |
OMIM:608836 |
| Gitelman Syndrome |
|
Iron deficiency anemia, Varicose veins, Pericardial effusion |
ORPHA:358 |
| Hypomelanosis Of Ito |
|
Gray matter heterotopia |
OMIM:300337 |
| Miller-Dieker Lissencephaly Syndrome |
|
Intrauterine growth retardation, Abnormal heart morphology, Polyhydramnios, Pachygyria, Agyria, G... |
OMIM:247200 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Dextrocardia, Coarctation of aorta, Atrioventricular canal defect, Periventricular heterotopia |
OMIM:618929 |
| Hydrolethalus Syndrome 1 |
|
Abnormal cortical gyration, Complete atrioventricular canal defect, Ventricular septal defect, Ar... |
OMIM:236680 |
| Crimean-Congo Hemorrhagic Fever |
|
Myocarditis, Leukocytosis, Pericardial effusion, Leukopenia, Ascites, Splenomegaly, Neutrophilia,... |
ORPHA:99827 |
| Tetrasomy 18P |
|
Abnormality of neuronal migration |
ORPHA:3307 |
| Sarcoidosis, Susceptibility To, 1 |
|
Pancytopenia, Pleural effusion, Pericardial effusion, Splenomegaly |
OMIM:181000 |
| Radio-Tartaglia Syndrome |
|
Gray matter heterotopia, Ventricular septal defect |
OMIM:619312 |
| Bohring-Opitz Syndrome |
|
Ventricular septal defect, Intrauterine growth retardation, Polyhydramnios, Atrial septal defect,... |
OMIM:605039 |
| Vici Syndrome |
|
Gray matter heterotopia, Cardiomyopathy |
ORPHA:1493 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Holoprosencephaly, Abnormality of neuronal migration, Tetralogy of Fallot, Overriding aorta |
ORPHA:3186 |
| Coffin-Lowry Syndrome |
|
Abnormal aortic valve morphology, Abnormality of neuronal migration, Abnormal tricuspid valve mor... |
ORPHA:192 |
| Tsh-Secreting Pituitary Adenoma |
|
Pericardial effusion |
ORPHA:91347 |
| Limb Body Wall Complex |
|
Short umbilical cord, Ventricular septal defect, Ectopia cordis, Anencephaly, Myelomeningocele, A... |
ORPHA:2369 |
| Neonatal Adrenoleukodystrophy |
|
Abnormality of neuronal migration |
ORPHA:44 |
| Acromelic Frontonasal Dysostosis |
|
Gray matter heterotopia, Periventricular nodular heterotopia |
OMIM:603671 |
| Koolen-De Vries Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Intrauterine growth retardation, Aortic root an... |
OMIM:610443 |
| Spinal Arteriovenous Metameric Syndrome |
|
Spinal arteriovenous malformation, Abnormality of the spinal cord, Arteriovenous malformation |
ORPHA:53721 |
| Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Abnormality of the spinal cord |
ORPHA:139578 |
| Cerebral Palsy, Spastic Quadriplegic, 3 |
|
Gray matter heterotopia |
OMIM:617008 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Abnormality of neuronal migration, Ventricular septal defect, Intrauterine growth retardation, Pa... |
ORPHA:464311 |
| Joubert Syndrome With Oculorenal Defect |
|
Abnormality of neuronal migration, Hydrocephalus |
ORPHA:2318 |
| Oculocerebrocutaneous Syndrome |
|
Gray matter heterotopia |
OMIM:164180 |
| Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Abnormality of neuronal migration |
OMIM:300957 |
| Joubert Syndrome 30 |
|
Gray matter heterotopia |
OMIM:617622 |
| Poretti-Boltshauser Syndrome |
|
Gray matter heterotopia |
OMIM:615960 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Gray matter heterotopia, Abnormal heart morphology, Cardiomyopathy |
ORPHA:26791 |
| 16Q24.3 Microdeletion Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect, Increased mean corpuscular volume, Periventric... |
ORPHA:261250 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Gray matter heterotopia, Ventricular septal defect, Polymicrogyria, Patent ductus arteriosus |
OMIM:214100 |
| Keratoderma Hereditarium Mutilans |
|
Abnormality of the spinal cord |
ORPHA:494 |
| Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Abnormality of neuronal migration, Intrauterine growth retardation |
ORPHA:2518 |
| Cerebrofacioarticular Syndrome |
|
Lymphedema, Abnormal heart morphology, Gray matter heterotopia, Pulmonic stenosis |
ORPHA:314679 |
| Posterior Meningocele |
|
Meningocele, Occipital meningocele, Hydromyelia, Neural tube defect, Hydrocephalus, Tethered cord... |
ORPHA:268810 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Hydrocephalus, Periventricular heterotopia |
OMIM:618476 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
| Opitz-Kaveggia Syndrome |
|
Gray matter heterotopia, Abnormal heart morphology, Hydrocephalus, Umbilical hernia |
OMIM:305450 |
| Persistent Hyperplastic Primary Vitreous |
|
Remnants of the hyaloid vascular system, Glial remnants anterior to the optic disc, Hyaloid vascu... |
ORPHA:91495 |
| Fontaine Progeroid Syndrome |
|
Bicuspid aortic valve, Intrauterine growth retardation, Periventricular heterotopia, Abnormal hea... |
OMIM:612289 |
| Vici Syndrome |
|
Dilated cardiomyopathy, Cardiomyopathy, Left ventricular hypertrophy, Decreased proportion of CD4... |
OMIM:242840 |
| Solitary Bone Cyst |
|
Abnormality of the spinal cord, Muscular edema |
ORPHA:83468 |
| Asparagine Synthetase Deficiency |
|
Exaggerated startle response, Simplified gyral pattern |
OMIM:615574 |
| Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Pachygyria, Intrauterine growth retardation, Periventricular heterotopia |
ORPHA:255138 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
| Ritscher-Schinzel Syndrome 3 |
|
Atrioventricular canal defect, Periventricular nodular heterotopia |
OMIM:619135 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Aortic aneurysm, Bra... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Aortic aneurysm, Bra... |
ORPHA:352665 |
| Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
| Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Lissencephaly, Pachygyria, Polymicrogyria, Agyria, Type II lissence... |
OMIM:253800 |
| Joubert Syndrome With Hepatic Defect |
|
Abnormality of neuronal migration, Hydrocephalus, Splenomegaly |
ORPHA:1454 |
| Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormality of neuronal migration |
ORPHA:2063 |
| Orofaciodigital Syndrome Type 6 |
|
Abnormality of neuronal migration, Abnormal heart morphology |
ORPHA:2754 |
| Van Maldergem Syndrome 1 |
|
Subcortical band heterotopia, Periventricular nodular heterotopia, Simplified gyral pattern, Pach... |
OMIM:601390 |
| Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
| Man1B1-Cdg |
|
Periventricular heterotopia |
ORPHA:397941 |
| Orofaciodigital Syndrome Xiv |
|
Ventricular septal defect, Periventricular heterotopia, Holoprosencephaly, Patent ductus arterios... |
OMIM:615948 |
| Tetrasomy 9P |
|
Dextrocardia, Intrauterine growth retardation, Pericarditis, Abnormal mitral valve morphology, Ju... |
ORPHA:3310 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response |
ORPHA:320406 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Intrauterine growth retardation, Coarctation of aorta, Stillbirth, Pachygyria, Atrial septal defe... |
OMIM:210710 |
| Stiff-Person Syndrome |
|
Opisthotonus, Exaggerated startle response |
OMIM:184850 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Remnants of the hyaloid vascular system, Retinal nonattachment, Iris coloboma |
OMIM:221900 |
| Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response |
ORPHA:309246 |
| Aicardi Syndrome |
|
Gray matter heterotopia, Pachygyria, Spina bifida, Polymicrogyria |
OMIM:304050 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Intrauterine growth retardation, Lobar holoprosencephaly, Periventricular heterotopia, Simplified... |
ORPHA:468631 |
| Mosaic Trisomy 20 |
|
Ventricular septal defect, Intrauterine growth retardation, Dysplastic tricuspid valve, Abnormal ... |
ORPHA:1724 |
| Arima Syndrome |
|
Gray matter heterotopia, Occipital meningocele |
OMIM:243910 |
| Smith-Lemli-Opitz Syndrome |
|
Ventricular septal defect, Intrauterine growth retardation, Periventricular heterotopia, Holopros... |
OMIM:270400 |
| Oculo-Palato-Cerebral Syndrome |
|
Remnants of the hyaloid vascular system, Retinal detachment |
ORPHA:2714 |
| Van Maldergem Syndrome 2 |
|
Gray matter heterotopia, Subcortical band heterotopia, Periventricular nodular heterotopia |
OMIM:615546 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Abnormality of neuronal migration |
ORPHA:163681 |
| Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response |
OMIM:272750 |
| Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Gray matter heterotopia |
OMIM:618797 |
| Alg11-Cdg |
|
Gray matter heterotopia |
ORPHA:280071 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Limb tremor, Exaggerated startle response |
OMIM:608643 |
| Superficial Siderosis |
|
Abnormality of the spinal cord, Dysgyria, Atrophy of the spinal cord, Abnormal vertebral artery m... |
ORPHA:247245 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Abnormal cortical gyration, Exaggerated startle response |
OMIM:617527 |
| Bilateral Perisylvian Polymicrogyria |
|
Abnormality of neuronal migration, Bilateral perisylvian polymicrogyria, Intrauterine growth reta... |
ORPHA:98889 |
| Orofaciodigital Syndrome Xvi |
|
Gray matter heterotopia |
OMIM:617563 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Abnormal cortical gyration, Exaggerated startle response |
ORPHA:521426 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
| Acute Disseminated Encephalomyelitis |
|
Abnormality of the spinal cord, Cerebral edema, Myelitis |
ORPHA:83597 |
| Pmm2-Cdg |
|
Hypertrophic cardiomyopathy, Pericarditis, Pericardial effusion, Anasarca, Impaired neutrophil ch... |
ORPHA:79318 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response |
ORPHA:438216 |
| 6Q Terminal Deletion Syndrome |
|
Abnormality of neuronal migration, Gray matter heterotopia, Polymicrogyria, Periventricular heter... |
ORPHA:75857 |
| Sandhoff Disease |
|
Exaggerated startle response |
OMIM:268800 |
| Nijmegen Breakage Syndrome |
|
Abnormality of neuronal migration, Acute leukemia, Thrombocytopenia, Hemolytic anemia, Autoimmune... |
ORPHA:647 |
| Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Abnormality of the spinal cord, Cerebral edema, Increased red blood cell count |
ORPHA:68 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Holoprosencephaly, Gray matter heterotopia, Polymicrogyria |
OMIM:618820 |
| Tay-Sachs Disease |
|
Tremor, Exaggerated startle response |
ORPHA:845 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Abnormality of the spinal cord |
ORPHA:88628 |
| Adrenomyeloneuropathy |
|
Abnormality of the spinal cord, Dorsal column degeneration, Atrophy of the spinal cord |
ORPHA:139399 |
| Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response |
ORPHA:79255 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Abnormality of the spinal cord, Myelopathy |
ORPHA:139396 |
| Periventricular Nodular Heterotopia 9 |
|
Gray matter heterotopia, Polymicrogyria, Periventricular nodular heterotopia |
OMIM:618918 |
| Orofaciodigital Syndrome Type 14 |
|
Ventricular septal defect, Patent ductus arteriosus, Periventricular heterotopia |
ORPHA:434179 |
| Genitopatellar Syndrome |
|
Ventricular septal defect, Atrial septal defect, Polyhydramnios, Periventricular heterotopia |
OMIM:606170 |
| Neurofibromatosis Type 2 |
|
Remnants of the hyaloid vascular system |
ORPHA:637 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Leukopenia, Xerostomia, Abnormality of the spinal cord, Normochromic anemia, V... |
ORPHA:289390 |
| Mismatch Repair Cancer Syndrome 1 |
|
Leukemia, Gray matter heterotopia |
OMIM:276300 |
| Neuromuscular Oculoauditory Syndrome |
|
Periventricular heterotopia |
OMIM:618733 |
| Proteus Syndrome |
|
Thymus hyperplasia, Sirenomelia, Splenomegaly, Gray matter heterotopia, Arteriovenous malformatio... |
ORPHA:744 |
| Microphthalmia, Syndromic 2 |
|
Remnants of the hyaloid vascular system, Retinal detachment, Iris coloboma |
OMIM:300166 |
| Neuroocular Syndrome |
|
Remnants of the hyaloid vascular system, Lens coloboma, Iris coloboma |
OMIM:619539 |
| Norrie Disease |
|
Remnants of the hyaloid vascular system, Optic atrophy, Retinal detachment, Ectopia lentis |
ORPHA:649 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bicuspid aortic valve, Ventricular septal defect, Asplenia, Periventricular heterotopia, Abnormal... |
ORPHA:261552 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bicuspid aortic valve, Asplenia, Periventricular heterotopia, Abnormal heart morphology, Coarctat... |
ORPHA:261537 |
| Mowat-Wilson Syndrome |
|
Bicuspid aortic valve, Asplenia, Periventricular heterotopia, Abnormal heart morphology, Coarctat... |
ORPHA:2152 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response |
OMIM:619522 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Exaggerated startle response |
ORPHA:438213 |
