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GTR Home > Conditions/Phenotypes > Syndromic X-linked intellectual disability Raymond type

Syndromic X-linked intellectual disability Raymond type

Synonyms
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, RAYMOND TYPE

Summary

Raymond-type X-linked syndromic intellectual developmental disorder (MRXSR) is characterized by mildly to severely impaired intellectual development with speech and language difficulties associated with variable additional features, including marfanoid habitus, epilepsy, facial dysmorphism, hypotonia, and behavioral problems (summary by Baker et al., 2015 and Schirwani et al., 2018). [from OMIM]

Available tests

18 tests are in the database for this condition.

Clinical tests (18 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CGI89, CXorf11, DHHC9, MMSA1, MRXSR, MRXSZ, ZDHHC10, ZNF379, ZNF380, ZDHHC9
    Summary: zinc finger DHHC-type palmitoyltransferase 9

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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