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GENATLAS PHENOTYPE

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)

Remark(s)