RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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. (DO)
Synonyms:
exact_synonym:
GUST; Gustavson syndrome; MRXSG; Mental retardation X-linked severe Gustavson type; Mental retardation with optic atrophy, deafness, and seizures; intellectual developmental disorder with optic atrophy, deafness, and seizures; intellectual developmental disorder, X-linked syndromic, Gustavson type
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OPTIC ATROPHY, DEAFNESS, AND SEIZURES | ClinVar Annotator: match by term: Mental retardation Gustavson type, X-linked