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GENATLAS PHENOTYPE

last update : 18-06-2019

Symbol	MCPH24
Location	12q23.2
Name	microcephaly 24, primary, autosomal recessive
Corresponding gene	NUP37
Main clinical features	microcephaly (-5 to -8 SD), mildly impaired intellectual development, cerebellar vermis hypoplasia, and fifth finger clinodactyly
Genetic determination	autosomal recessive
Function/system disorder	neurology
Type	disease

Remark(s)