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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
GARD:0005611: 
MESH:C536759: 
Orphanet:3078: 
SCTID:722213009: 
UMLS:C0795965: