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GTR Home > Conditions/Phenotypes > Intellectual disability, X-linked, with or without seizures, arx-related

Intellectual disability, X-linked, with or without seizures, arx-related

Synonyms
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 29; MENTAL RETARDATION, X-LINKED 29; MENTAL RETARDATION, X-LINKED 32; MENTAL RETARDATION, X-LINKED 33; MENTAL RETARDATION, X-LINKED 38; MENTAL RETARDATION, X-LINKED 43; MENTAL RETARDATION, X-LINKED 76; MENTAL RETARDATION, X-LINKED 87; Mental retardation, X-linked 52

Summary

Intellectual developmental disorder-29 (XLID29) is a nonspecific form of XLID. It is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from lissencephaly (LISX2; 300215) to Proud syndrome (300004) to infantile spasms without brain malformations (DEE1; 308350) to Partington syndrome (309510) (Kato et al., 2004; Wallerstein et al., 2008). [from OMIM]

Available tests

73 tests are in the database for this condition.

Clinical tests (73 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CT121, EIEE1, ISSX, MRX29, MRX32, MRX33, MRX36, MRX38, MRX43, MRX54, MRX76, MRX87, MRXS1, PRTS, ARX
    Summary: aristaless related homeobox

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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