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, congenital muscular dystrophydystroglycanopathy type A2, DOID:0111240, congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2, MDDGA2 ...