Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 18-06-2019

Symbol	MCPH22
Location	11q25
Name	microcephaly 22, primary, autosomal recessive
Corresponding gene	NCAPD3
Main clinical features	short stature and microcephaly with a normal or abnormal development also moderate developmental delay, seizures, and limb hypertonia
Genetic determination	autosomal recessive
Function/system disorder	neurology
	osteo-articular
	mental retardation
Type	disease

Remark(s)