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severe X-linked intellectual disability, Gustavson type
Disease Summary
Associated Targets ()
Mondo Description Severe X-linked intellectual disability, Gustavson type is characterised by X-linked mental retardation, microcephaly, optical atrophy with impaired vision or blindness, a severe hearing defect, facial dysmorphology, spasticity, epileptic seizures and restricted joint movement. It has been described in seven children from two generations of a Swedish family. All patients died in during early childhood.
Mondo Term and Equivalent IDs
MONDO:0010661: severe X-linked intellectual disability, Gustavson type
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
GARD:0005611
MESH:C536759
OMIM:309555
Orphanet:3078
SCTID:722213009
UMLS:C0795965
MONDO:0010661
High level summary of knowledge for a disease, including descriptions and datasource references.