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

Syndromic X-linked intellectual disability Claes-Jensen type

Synonyms
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
Modes of inheritance
X-linked recessive inheritance (Orphanet)

Summary

Claes-Jensen type of X-linked syndromic intellectual developmental disorder (MRXSCJ) is characterized by impaired intellectual development with substantial clinical heterogeneity in affected males. However, males are usually reported to have short stature, microcephaly, hyperreflexia, and aggressive behavior. In rare cases, female carriers exhibit mildly impaired intellectual development or learning difficulties (summary by Guerra et al., 2020). [from OMIM]

Available tests

42 tests are in the database for this condition.

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Clinical tests (42 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DXS1272E, JARID1C, MRX13, MRXJ, MRXSCJ, MRXSJ, SMCX, XE169, KDM5C
    Summary: lysine demethylase 5C

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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