X-linked mental retardation Gustavson type

Term ID

DOID:0081123

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. https://pubmed.ncbi.nlm.nih.gov/8503440/

References

• GARD:5611
• MIM:309555
• ORDO:3078

Ontology

Human Disease   ( DOID:0081123 )