Human genes for congenital muscular dystrophy-dystroglycanopathy type A11
Congenital muscular dystrophy-dystroglycanopathy type A11 [DOID:0111230]
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B3GALNT2 on 1q42.3.
Synonyms: congenital muscular dystrophy-dystroglycanopathy type A11, congenital muscular dystrophydystroglycanopathy type A11, DOID:0111230, congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11, MDDGA11 ...