Term Name: Walker-Warburg syndrome
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 )

Relationships
is a type of: autosomal recessive disease congenital muscular dystrophy