{"orpha":269528,"name":"Syndrome with microcephaly as a major feature","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-269528/","orphanet_url":"https://www.orpha.net/en/disease/detail/269528","names":{"fr":{"name":"Syndrome avec microcéphalie comme manifestation majeure"},"de":{"name":"Syndrom mit Mikrozephalie als Hauptmerkmal"},"es":{"name":"Síndrome con microcefalia como característica principal"},"it":{"name":"Sindrome con microcefalia come segno cardinale"},"nl":{"name":"Syndroom met microcefalie als hoofdkenmerk"},"pt":{"name":"Síndrome com microcefalia como característica principal"},"pl":{"name":"Zespół z małogłowiem jako głównym objawem"},"cs":{"name":"Syndromy s mikrocefalií jako hlavním příznakem"},"uk":{"name":"Синдром з мікроцефалією як основною ознакою"},"zh":{"name":"以小头畸形为主要特征的综合征"},"tr":{"name":"Esas klinik özelliği mikrosefali olan sendrom"}},"xrefs":[{"source":"ICD-11","code":"LD20.2","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"2011102370"},{"source":"MONDO","code":"17119","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680774","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":729560,"name":"Forebrain malformation","classifications":[147,181]},{"orpha":269564,"name":"Genetic syndrome with a central nervous system malformation as a major feature","classifications":[156]}],"children":[{"orpha":99742,"name":"Amish lethal microcephaly","type":"Malformation syndrome"},{"orpha":572333,"name":"Blepharophimosis-ptosis-epicanthus inversus syndrome plus","type":"Malformation syndrome"},{"orpha":1270,"name":"Bowen-Conradi syndrome","type":"Malformation syndrome"},{"orpha":664923,"name":"Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome","type":"Malformation syndrome"},{"orpha":717854,"name":"Developmental delay-microcephaly-short stature-ocular disorders-intellectual disability syndrome","type":"Malformation syndrome"},{"orpha":404437,"name":"Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome","type":"Malformation syndrome"},{"orpha":724148,"name":"Global developmental delay-early-onset refractory epilepsy-spastic quadriplegia-microcephaly-cerebral atrophy syndrome","type":"Malformation syndrome"},{"orpha":697067,"name":"Global developmental delay-intellectual disability-microcephaly-short stature-brain iron accumulation syndrome","type":"Malformation syndrome"},{"orpha":293967,"name":"Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome","type":"Malformation syndrome"},{"orpha":402364,"name":"Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly","type":"Malformation syndrome"},{"orpha":633035,"name":"Intellectual disability-early-onset cataract-microcephaly syndrome","type":"Malformation syndrome"},{"orpha":313795,"name":"Jawad syndrome","type":"Malformation syndrome"},{"orpha":439897,"name":"Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome","type":"Malformation syndrome"},{"orpha":2510,"name":"Micro syndrome","type":"Malformation syndrome"},{"orpha":324761,"name":"Microcephalic primordial dwarfism","type":"Clinical group"},{"orpha":3433,"name":"Microcephaly-brachydactyly-kyphoscoliosis syndrome","type":"Malformation syndrome"},{"orpha":2523,"name":"Microcephaly-brain defect-spasticity-hypernatremia syndrome","type":"Malformation syndrome"},{"orpha":294016,"name":"Microcephaly-capillary malformation syndrome","type":"Malformation syndrome"},{"orpha":2515,"name":"Microcephaly-cardiomyopathy syndrome","type":"Malformation syndrome"},{"orpha":329332,"name":"Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome","type":"Malformation syndrome"},{"orpha":2522,"name":"Microcephaly-cervical spine fusion anomalies syndrome","type":"Malformation syndrome"},{"orpha":2526,"name":"Microcephaly-chorioretinopathy-lymphedema syndrome","type":"Malformation syndrome"},{"orpha":699844,"name":"Microcephaly-corpus callosum hypoplasia-simplified gyral pattern-intellectual disability syndrome","type":"Malformation syndrome"},{"orpha":662179,"name":"Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome","type":"Malformation syndrome"},{"orpha":2528,"name":"Microcephaly-microcornea syndrome, Seemanova type","type":"Malformation syndrome"},{"orpha":662762,"name":"Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome","type":"Malformation syndrome"},{"orpha":443162,"name":"NDE1-related microhydranencephaly","type":"Malformation syndrome"},{"orpha":684240,"name":"Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome","type":"Malformation syndrome"},{"orpha":434179,"name":"Orofaciodigital syndrome type 14","type":"Malformation syndrome"},{"orpha":481152,"name":"PYCR2-related microcephaly-progressive leukoencephalopathy","type":"Malformation syndrome"},{"orpha":306558,"name":"Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome","type":"Disease"},{"orpha":391408,"name":"Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome","type":"Disease"},{"orpha":477814,"name":"Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome","type":"Malformation syndrome"},{"orpha":1229,"name":"Pseudo-TORCH syndrome type 1","type":"Malformation syndrome"},{"orpha":659642,"name":"Rauch-Steindl syndrome","type":"Malformation syndrome"},{"orpha":597743,"name":"SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome","type":"Malformation syndrome"},{"orpha":708166,"name":"Severe neurodevelopmental disorder-facial dysmorphism-cerebral-renal-cardiac anomalies syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}