|OBO ID: DOID:0050560|
|Term Name:||Walker-Warburg syndrome||Search Ontology:|
|Definition:||A congenital muscular dystrophy that is characterized by hypotonia, seizures, severe intellectual and developmental disability, eye abnormalities and early death and has_material_basis_in mutations in multiple genes including POMT1, POMT2, ISPD, FKTN, FKRP, and LARGE1. https://ghr.nlm.nih.gov/condition/walker-warburg-syndrome|
|Ontology:||Human Disease (DOID:0050560)|
|is a type of:||
OTHER Walker-Warburg syndrome PAGES
GENES INVOLVED No data available
PHENOTYPE No data available
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