Other Names for this Disease
- ACC with abnormal genitalia
- Corpus callosum, agenesis of, with abnormal genitalia
- Micrencephaly - corpus callosum agenesis - abnormal genitalia
- New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum
- Proud Levine Carpenter syndrome
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agenesis of the corpus callosum, seizures, and spasticity. It usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. Proud syndrome is caused by changes (mutations) in the ARX gene and is inherited in an X-linked recessive manner. Treatment is based on the signs and symptoms present in each person.Proud syndrome is a rare neurological condition that is primarily characterized by severe intellectual disability,
Last updated: 7/1/2015
- CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA. OMIM. September 2013; http://www.omim.org/entry/300004.
- Proud VK, Levine C, Carpenter NJ. New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum. Am J Med Genet. April 1992; 43(1-2):458-466.
- Genetics Home Reference (GHR) contains information on Proud syndrome. This website is maintained by the National Library of Medicine.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Proud syndrome. Click on the link to view a sample search on this topic.