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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
X-linked mental retardation Gustavson type
Summary
- Synonym
-
- 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.
- Super Class
- syndromic X-linked intellectual disability
External Links
- Disease Ontology
- DOID:0081123
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
