Term Name: | X-linked mental retardation Gustavson type |
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Synonyms: | mental retardation with optic atrophy, deafness and seizures |
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. |
Ontology: | Human Disease [DOID:0081123] ( DOID:0081123 ) |