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GTR Home > Conditions/Phenotypes > Severe X-linked intellectual disability, Gustavson type

Severe X-linked intellectual disability, Gustavson type

Synonyms
GUSTAVSON SYNDROME; INTELLECTUAL DEVELOPMENTAL DISORDER WITH OPTIC ATROPHY, DEAFNESS, AND SEIZURES; Mental retardation Gustavson type, X-linked; Mental retardation X-linked severe Gustavson type; Mental retardation with optic atrophy, deafness, and seizures
Modes of inheritance
X-linked recessive inheritance (Orphanet)

Summary

The Gustavson type of X-linked syndromic intellectual developmental disorder (MRXSG) is characterized by intrauterine growth retardation, microcephaly, hypotonia, and severe global developmental delay, usually resulting in death in infancy or early childhood. Affected males have profoundly impaired intellectual development with absent speech, poor reaction to stimuli, optic atrophy, deafness, seizures, spasticity, and restriction of the large joints. Female carriers are usually unaffected due to skewed X inactivation that silences the pathogenic allele, although 1 severely affected female has been reported (Johansson et al., 2024). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: HNRNPG, HNRPG, MRXS11, MRXSG, MRXSH, RBMXP1, RBMXRT, RNMX, hnRNP-G, RBMX
    Summary: RNA binding motif protein X-linked

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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