Rare Disease Database

Search results for: heterotopia OR polymicrogyria OR lissencephaly OR microcephaly OR pachygyria OR hemimegalencephaly OR agenesis of the corpus callosum OR focal cortical dysplasia OR schizencephaly OR Walker-Warburg




NORD Rare Disease Report
Walker Warburg Syndrome

Also known as: muscular dystrophy-dystroglycanopathy [with brain and eye anomalies], type A (MDDGA) cerebroocular dysplasia-muscular dystrophy syndrome (COD-MD syndrome) hydrocephalus, agyria, and retinal dysplasia (HARD syndrome) hydrocephalus, agyria, retinal dysplasia, and encephalocele (HARDE syndrome)

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NORD Rare Disease Report
Focal Dermal Hypoplasia

Also known as: combined mesoectodermal dysplasia DHOF ectodermal and mesodermal dysplasia, congenital ectodermal and mesodermal dysplasia with osseous involvement FDH focal dermal dysplasia syndrome focal dermato-phalangeal dysplasia FODH Goltz-Gorlin Syndrome Goltz Syndrome








GARD Summary
Corpus callosum agenesis double urinary collecting

Also known as: Corpus callosum agenesis-double urinary collecting system syndrome Corpus callosum agenesis - double urinary collecting system Ben Ari-Shuper-Mimouni syndrome OBSOLETE: Corpus callosum agenesis-double urinary collecting system-trigonocephaly syndrome


GARD Summary
Corpus callosum agenesis

Also known as: NON RARE IN EUROPE: Isolated corpus callosum agenesis Agenesis of the corpus callosum Isolated corpus callosum agenesis





NORD Rare Disease Report
Lissencephaly

Also known as: agyria lissencephaly, type I classic lissencephaly (LIS1)





NORD Rare Disease Report
Dandy Walker Malformation

Also known as: Dandy-Walker Cyst Dandy-Walker Deformity Dandy-Walker Syndrome DWM Hydrocephalus, Internal, Dandy-Walker Type Hydrocephalus, Noncommunicating, Dandy-Walker Type Luschka-Magendie Foramina Atresia

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NORD Rare Disease Report
Malformación de Dandy Walker

Also known as: Quiste de Dandy-Walker Deformidad de dandy-walker Síndrome de Dandy-Walker Hidrocefalia Interna Tipo Dandy-Walker Hidrocefalia, no comunicante, tipo Dandy-Walker Atresia del foramen de Luschka-Magendie


NORD Rare Disease Report
Aicardi Syndrome

Also known as: agenesis of corpus callosum with chorioretinitis abnormality agenesis of corpus callosum with infantile spasms and ocular anomalies callosal agenesis and ocular abnormalities chorioretinal anomalies with ACC corpus callosum, agenesis of chorioretinal abnormality