Metadata | |
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ID | DOID:0110639 |
Name | congenital muscular dystrophy 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 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
congenital muscular dystrophy with integrin alpha-7 deficiency [EXACT] congenital muscular dystrophy with ITGA7 deficiency [EXACT] congenital myopathy due to integrin alpha-7 deficiency [EXACT] |
Parent Relationships |