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Partington syndrome

Synonyms
MENTAL RETARDATION, X-LINKED 36; Mental retardation, X-linked, syndromic 1; Mental retardation, X-linked, with dystonic movements, ataxia, and seizures; Mental retardation-dystonic movements-ataxia-seizures syndrome; Partington X-linked mental retardation syndrome
Modes of inheritance
X-linked recessive inheritance (Orphanet)

Summary

Partington syndrome (PRTS) is an X-linked developmental disorder characterized by impaired intellectual development and variable movement disturbances. Partington syndrome 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 hydranencephaly and lissencephaly (LISX2; 300215) to Proud syndrome (300004) to infantile spasms without brain malformations (see 308350) to nonsyndromic intellectual disability (300419). Although males with ARX mutations are often more severely affected, female mutation carriers may also be affected (Kato et al., 2004; Wallerstein et al., 2008). [from OMIM]

Available tests

76 tests are in the database for this condition.

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Clinical tests (76 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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