X-linked mental retardation Gustavson type (DOID:0081123)
Alliance: disease page
Synonyms: mental retardation with optic atrophy, deafness and seizures
Alt IDs: OMIM:309555, ORDO:3078
Definition: A syndromic X-linked intellectual disability that is characterized by severe intellectual disability, microcephaly, post-natal growth retardation, severe visual impairment or blindness, severe hearing defect, spasticity, epileptic seizures, restricted large-joint movements and early death.