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Metadata
ID DOID:0081123
Name X-linked mental retardation Gustavson type
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.
https://pubmed.ncbi.nlm.nih.gov/8503440/
Xrefs

GARD:5611

MIM:309555

ORDO:3078

Subsets

DO_rare_slim

Synonyms

mental retardation with optic atrophy, deafness and seizures [EXACT]

Parent Relationships

is_a syndromic X-linked intellectual disability

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