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References OMIM Gene GeneReviews HGMD HGNC
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
  • 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)