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GENATLAS PHENOTYPE

last update : 19-10-2015

Symbol	MRD9
Location	2q37.3
Name	mental retardation, autosomal dominant 9
Corresponding gene	KIF1A
Main clinical features	severe mental retardation, no evidence of epilepsy, axial hypotonia with peripheral spasticity, and mild atrophy of the vermian region of the cerebellum on brain MRI delayed language, optic nerve atrophy, microcephaly, seizures, progressive spastic paraparesis, peripheral neuropathy, and cerebral and/or cerebellar atrophy
Genetic determination	autosomal dominant
Function/system disorder	mental retardation
Type	disease

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