congenital muscular dystrophy due to integrin alpha-7 deficiency

Term ID

DOID:0110639

Synonyms

• congenital muscular dystrophy with integrin alpha-7 deficiency
• congenital muscular dystrophy with ITGA7 deficiency
• congenital myopathy due to integrin alpha-7 deficiency

Definition

A congenital muscular dystrophy characterized by autosomal recessive inheritance that has_material_basis_in compound heterozygous mutation in the ITGA7 gene on chromosome 12q13. https://www.ncbi.nlm.nih.gov/pubmed/9590299

References

• ICD10CM:G71.2
• OMIM:613204
• ORDO:34520

Ontology

Human Disease   ( DOID:0110639 )