FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term X-linked mental retardation Gustavson type ID (Ontology) DOID:0081123 (Human Disease)
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.
Also Known As "mental retardation with optic atrophy, deafness and seizures"
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X-linked monogenic disease_________
syndromic intellectual disability__|
                                   syndromic X-linked intellectual disability
                                    |__X-linked mental retardation Gustavson type
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Is a syndromic X-linked intellectual disability
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Synonyms
  • "mental retardation with optic atrophy, deafness and seizures" EXACT
Secondary IDs
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GARD:5611
MIM:309555
ORDO:3078