Severe intellectual disability-progressive spastic diplegia syndrome
Other Names for this Disease
- Intellectual disability, autosomal dominant 19
- CTNNB1-related intellectual disability
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.
intellectual disability . Other signs and symptoms include progressive microcephaly (very small head); ataxia (lack of coordination); spasticity; and/or skin, hair and mild facial anomalies. It is caused by changes (mutations) in the CTNNB1 gene and it is inherited in an autosomal dominant fashion. Treatment is based on the signs and symptoms present in each person.Severe intellectual disability-progressive spastic diplegia syndrome is a rare condition that has been described in a few people with severe
Last updated: 10/27/2015
- Dubruc E, Putoux A, Labalme A, Rougeot C, Sanlaville D & Edery P. A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency. Am. J. Med. Genet. 2014; 164:1571-1575. http://www.medscape.com/medline/abstract/24668549. Accessed 10/12/2015.
- Mental retardation, autosomal dominant 19. OMIM. July 24, 2014; http://omim.org/entry/615075. Accessed 10/12/2015.
- Tucci V & cols. Dominant beta-catenin mutations cause intellectual disability with recognizable syndromic features. J. Clin. Invest. 2014; 124:1468-1482. http://www.ncbi.nlm.nih.gov/pubmed/24614104. Accessed 10/12/2015.
- Kuechler A & cols. De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum. Hum Genet. January, 2015; 134(1):97-109. http://www.ncbi.nlm.nih.gov/pubmed/25326669. Accessed 10/12/2015.
On this page
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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.