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GTR Home > Conditions/Phenotypes > X-linked lissencephaly with abnormal genitalia

X-linked lissencephaly with abnormal genitalia

Synonyms
Lissencephaly 2, X-linked; X-Linked Lissencephaly with Ambiguous Genitalia
Modes of inheritance
X-linked recessive inheritance (Orphanet)

Summary

X-linked lissencephaly-2 (LISX2) is a developmental disorder characterized by structural brain anomalies, early-onset intractable seizures, severe psychomotor retardation, and ambiguous genitalia. Males are severely affected and often die within the first days or months of life, whereas females may be unaffected or have a milder phenotype (Bonneau et al., 2002). LISX2 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 to Proud syndrome (300004) to infantile spasms without brain malformations (DEE1; 308350) to syndromic (309510) and nonsyndromic (300419) mental retardation (Kato et al., 2004; Wallerstein et al., 2008). For a general phenotypic description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (607432). [from OMIM]

Available tests

99 tests are in the database for this condition.

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Clinical tests (99 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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