Term Name: congenital muscular dystrophy-dystroglycanopathy type A
Synonyms: congenital muscular alpha-dystroglycanopathy with brain and eye anomalies, klissencephaly type 2 with muscular and ocular involvement, MDDGA
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.
Ontology: Human Disease [DOID:0111229]   ( DOID:0111229 )

Relationships
is a type of: autosomal recessive disease muscular dystrophy-dystroglycanopathy
has subtype: congenital muscular dystrophy-dystroglycanopathy type A1 congenital muscular dystrophy-dystroglycanopathy type A2 congenital muscular dystrophy-dystroglycanopathy type A3 congenital muscular dystrophy-dystroglycanopathy type A5 congenital muscular dystrophy-dystroglycanopathy type A6 congenital muscular dystrophy-dystroglycanopathy type A7 congenital muscular dystrophy-dystroglycanopathy type A8 congenital muscular dystrophy-dystroglycanopathy type A9 congenital muscular dystrophy-dystroglycanopathy type A10 congenital muscular dystrophy-dystroglycanopathy type A11 congenital muscular dystrophy-dystroglycanopathy type A12 congenital muscular dystrophy-dystroglycanopathy type A13 congenital muscular dystrophy-dystroglycanopathy type A14 Fukuyama congenital muscular dystrophy