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GENATLAS PHENOTYPE

last update : 02-09-2010

Symbol	MRX60
Location	Xq12
HGNC id	7294
Name	mental retardation, 60
Other name(s)	mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance
Corresponding gene	OPHN1
Main clinical features	mild mental retardation, cognitive impairment, with myoclonic-astatic epilepsy, ataxia, strabismus and hypogenitalism, and on MRI, fronto-temporal atrophy with rostral enlargement of the lateral ventricles, lower vermian agenesis and asymmetric cerebellar hypoplasia
Genetic determination	sex linked
Function/system disorder	mental retardation
Type	MCA/MR

Gene product

Name	oligophrenin 1

Remark(s)

duplication leading to a mental retardation with microcephaly and normal posterior cranial fossa, with abnormalities of the supratentorial white matter, corpus callosum, pontine tegmentum genetic deficits in OPHN1 linked to glutamatergic dysfunction and defects in early circuitry development are an important contributory factor to this form of mental retardation (Kasri 2009)