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GENATLAS PHENOTYPE

last update : 04-03-2019

Symbol	MRCLUG
Location	22q13.31
Name	mental retardation with cerebral, limb and urogenital anomalies
Corresponding gene	FBLN1
Main clinical features	limb malformation and undescended testes at birth with mental retardation; delayed speech and motor milestones, epilepsy and encephalopathy; in any cases, ocular abnormalities MRI of the brain showed cortical atrophy and few scattered white matter lesions
Genetic determination	autosomal recessive
Function/system disorder	eye
	mental retardation
	neurology
	sex-genitalia
Type	disease

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