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References OMIM Gene GeneReviews HGMD HGNC
last update : 24-03-2020
Symbol ITGA7D
Location 12q13.3
Name congenital myopathy with delayed motor milestones, due to ITGA7 deficiency
Other name(s) myopathy, congenital, due to integrin alpha-7 deficiency
Corresponding gene ITGA7
Main clinical features
  • delayed psychomotor milestones, walking at 2.5 years, not jump or run, mental retardation was also observed, and verbal abilities were limited to only a few words
  • serum creatine kinase (CK) activity mildly elevated; brain MRI and EEG normal; muscle biopsy showing changes consistent with congenital myopathy
  • congenital fiber type disproportion
  • Genetic determination sex linked
    Function/system disorder neuromuscular
    Type disease
    Gene product
    Name integrin,alpha 7 (ITGA7)