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GENATLAS PHENOTYPE

last update : 11-09-2018

Symbol	MCPH20
Location	1q32.1
Name	microcephaly 20, primary,
Corresponding gene	KIF14
Main clinical features	microcephaly (-3.6 to -11 SD), moderate to severe intellectual disability, and variable speech impairment neuroimaging showed a reduced cerebral cortex with simplified gyral pattern
Genetic determination	autosomal recessive
Function/system disorder	neurology
Type	malformation

Remark(s)