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 ...