congenital muscular dystrophy-dystroglycanopathy A7 (DOID:0111234)
Alliance: disease page
Synonyms: congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A7; MDDGA7; Walker-Warburg syndrome or muscle-eye-brain disease ISPD-related
Alt IDs: OMIM:614643
Definition: A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in ISPD on 7p21.2-p21.1.