Walker-Warburg syndrome (DOID:0050560)
Alliance: disease page
Synonyms: cerebroocular dysplasia-muscular dystrophy syndrome; HARD syndrome
Alt IDs: MESH:D058494
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.