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GENATLAS PHENOTYPE

last update : 25-10-2018

Symbol	MCSZ2
Location	11q14.1
Name	microcephaly, seizures, and developmental delay 2
Corresponding gene	PAK1
Main clinical features	global developmental delay, microcephaly, seizures, ataxic gait, and highly active behavior, severe Intellectual disability facial dysmorphism with long face, frontal bossing, and deep-set eyes
Genetic determination	not applicable
Function/system disorder	mental retardation
	neurology
Type	disease

Remark(s)

heterozygous PAK1 mutations strongly impact fibroblast spreading and thereby result in a shift from cells with a round morphology to more cells enriched by filopodia (PMID: 30290153)) mutations perturb PAK1 function by reducing the dimerization capability of the PAK1 mutant with the wild-type form (PMID: 30290153))