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GENATLAS PHENOTYPE

last update : 25-09-2019

Symbol	GAMOS4
Location	20q13.12
Name	Galloway-Mowat syndrome 4
Corresponding gene	TP453RK
Main clinical features	renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities, and delayed psychomotor development dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia brain imaging showed variable abnormalities, such as polymicrogyria, poor myelination, cerebral atrophy, and cerebellar hypoplasia early death
Genetic determination	autosomal recessive
Function/system disorder	kidney and urinary tract
	neurology
	mental retardation
Type	disease

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