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GENATLAS PHENOTYPE

last update : 07-06-2019

Symbol	COL4A1D
Location	13q34
Name	COL4A1 deficiency
Corresponding gene	COL4A1
Main clinical features	cerebrovascular disease with ocular, renal, and muscular involvement congenital muscular dystrophies that often involve peripheral neuropathy myopathy with cataracts, hypertrophic cardiomyopathy, and ischemic cerebrovascular pathology, serum CK concentration elevations
Genetic determination	autosomal dominant
Function/system disorder	eye
	neurology
	neuromuscular
	kidney and urinary tract
Type	disease

Remark(s)