autosomal recessive limb-girdle muscular dystrophy type 2P
COD (Cerebroocular Dysgenesis)
Congenital Muscular Dystrophy with Central Nervous System Involvement
congenital muscular dystrophy-dystroglycanopathy type A +
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. (DO)
Muscular Dystrophy-Dystroglycanopathy (Congenital with Impaired Intellectual Development), type B, 14
Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 1
Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 2
Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 3
Muscular Dystrophy-Dystroglycanopathy (congenital without mental retardation), Type B, 4