Metadata | |
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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 | |
Subsets |
DO_rare_slim |
Synonyms |
mental retardation with optic atrophy, deafness and seizures [EXACT] |
Parent Relationships |