DISEASES

Disease-gene associations mined from literature

Human genes for congenital muscular dystrophy-dystroglycanopathy type A2

Congenital muscular dystrophy-dystroglycanopathy type A2 [DOID:0111240]

A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT2 on 14q24.3.

Synonyms:  congenital muscular dystrophy-dystroglycanopathy type A2,  DOID:0111240,  congenital muscular dystrophydystroglycanopathy type A2,  MDDGA2,  Walker-Warburg syndrome or muscle-eye-brain disease, POMT2-related ...