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GENATLAS PHENOTYPE

last update : 24-05-2016

Symbol	MMRAV
Location	16p13.3
Name	microcephaly, mental retardation, and abnormal auditory and visual function
Corresponding gene	TELO2
Main clinical features	including global developmental delay, intellectual disability, dysmorphic facial features, microcephaly, abnormal movements, and abnormal auditory and visual function, congenital heart disease
Genetic determination	not applicable
Function/system disorder	cardiovascular
	mental retardation
	eye
	ear
Type	disease

Remark(s)

loss-of-function variants in TELO2 are responsible for a complex human phenotype, may be due to reduced function of one or more of the PIKKs under developmental or to physiological circumstances (PMID: 27132593))