DISEASES

Disease-gene associations mined from literature

Human genes for congenital muscular dystrophy-dystroglycanopathy type A

Congenital muscular dystrophy-dystroglycanopathy type A [DOID:0111229]

A congenital muscular dystrophy-dystroglycanopathy type A 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.

Synonyms:  congenital muscular dystrophy-dystroglycanopathy type A,  DOID:0111229,  congenital muscular dystrophydystroglycanopathy type A,  congenital muscular dystrophy-dystroglycanopathy type As,  MDDGA ...