congenital muscular dystrophy-dystroglycanopathy type A (DOID:0111229)
Alliance: disease page
Synonyms: congenital muscular alpha-dystroglycanopathy with brain and eye anomalies; klissencephaly type 2 with muscular and ocular involvement; MDDGA
Alt IDs: OMIM:PS236670, ORDO:352687
Definition: A congenital muscular dystrophy-dystroglycanopathy characterized by cobblestone lissencephaly, muscle weakness, and brain and eye anomalies that has_material_basis_in autosomal recessive inheritance a defect in alpha-dystroglycan post-translational processing.