Term Name: | Walker-Warburg syndrome |
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Synonyms: | cerebroocular dysplasia-muscular dystrophy syndrome, HARD syndrome |
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. |
Ontology: | Human Disease [DOID:0050560] ( DOID:0050560 ) |