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GENATLAS PHENOTYPE

last update : 12-01-2011

Symbol	BCPMG2
Location	11q25
Name	band-like calcification with simplified gyration and polymicrogyria 2
Other name(s)	pseudo-TORCH syndrome
Corresponding gene	JAM3
Main clinical features	severe hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts generalized spasticity, exaggerated deep-tendon reflexes, and seizures:brain imaging showed evidence of a destructive brain disorder various renal abnormalities
Genetic determination	autosomal recessive
Function/system disorder	eye
	neurology
	kidney and urinary tract
Type	disease

Remark(s)