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GENATLAS PHENOTYPE

last update : 07-01-2015

Symbol	GAMOS1
Location	15q25.2
Name	Galloway-Mowat syndrome
Other name(s)	nephrosis-neuronal dysmigration syndrome nephrosis-microcephaly syndrome
Corresponding gene	WDR73
Other symbol(s)	GMS
Main clinical features	microcephaly, hiatus hernia, and nephrotic syndrome, microcystic dysplasia and focal glomerulosclerosis microcephaly, apparent porencephaly or encephalomalacia, developmental delay, minor facial anomalies, and contractural arachnodactyly, major brain abnormalities include cerebral atrophy and neural-migration defects, such as agyria, microgyria, or polymicrogyria, associated with severe psychomotor impairment, hypotonia, and seizures in half of all cases early death before the age of 6 years
Genetic determination	autosomal recessive
Function/system disorder	kidney and urinary tract
	mental retardation
Type	disease

Remark(s)

loss of WDR73 led to defects in cell survival and microtubule organization (PMID: 25466283))