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Metadata
ID DOID:0050560
Name Walker-Warburg 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.
https://ghr.nlm.nih.gov/condition/walker-warburg-syndrome
Xrefs

GARD:2599

MESH:D058494

Subsets

DO_FlyBase_slim

Synonyms

cerebroocular dysplasia-muscular dystrophy syndrome [EXACT]

HARD syndrome [EXACT]

Parent Relationships

is_a congenital muscular dystrophy

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