U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Corpus callosum agenesis-abnormal genitalia syndrome

Corpus callosum agenesis-abnormal genitalia syndrome

Synonyms
ACC with abnormal genitalia; Agenesis of Corpus Callosum with Abnormal Genitalia; New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum; Proud Levine Carpenter syndrome; Proud syndrome
Modes of inheritance
X-linked recessive inheritance (Orphanet)

Summary

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 (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 (DEE1; 308350) to syndromic (309510) and nonsyndromic (300419) mental retardation (Kato et al., 2004; Wallerstein et al., 2008). [from OMIM]

Available tests

75 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (75 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

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.