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References OMIM Gene GeneReviews HGMD HGNC
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