Proud Levine Carpenter syndrome

Common Name(s)

Proud Levine Carpenter syndrome

Proud syndrome is an X-linked developmental disorder characterized by agenesis of the corpus callosum, severe mental retardation, seizures, and spasticity. Males are severely affected, whereas females may be unaffected or have a milder phenotype ({4:Proud et al., 1992}). Proud 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 lissencephaly (LISX2; {300215}) to Proud syndrome to infantile spasms without brain malformations (EIEE1; {308350}) to syndromic ({309510}) and nonsyndromic ({300419}) mental retardation ({2:Kato et al., 2004}; {5:Wallerstein et al., 2008}).
 

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Condition Specific Organizations

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Scientific Literature

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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