DISEASES

Disease-gene associations mined from literature

Human genes for congenital muscular dystrophy-dystroglycanopathy type A3

Congenital muscular dystrophy-dystroglycanopathy type A3 [DOID:0111236]

A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT1 on 1p34.1.

Synonyms:  congenital muscular dystrophy-dystroglycanopathy type A3,  congenital muscular dystrophydystroglycanopathy type A3,  DOID:0111236,  congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3,  MDDGA3 ...