DISEASES

Disease-gene associations mined from literature

Human genes for congenital muscular dystrophy due to integrin alpha-7 deficiency

Congenital muscular dystrophy due to integrin alpha-7 deficiency [DOID:0110639]

A congenital muscular dystrophy characterized by autosomal recessive inheritance that has_material_basis_in compound heterozygous mutation in the ITGA7 gene on chromosome 12q13.

Synonyms:  congenital muscular dystrophy due to integrin alpha-7 deficiency,  congenital muscular dystrophy due to integrin alpha7 deficiency,  DOID:0110639,  congenital muscular dystrophy with integrin alpha-7 deficiency,  congenital muscular dystrophy with ITGA7 deficiency ...