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Other Names for this Disease
- DBS/FOAR syndrome
- Diaphragmatic hernia exomphalos absent corpus callosum hypertelorism myopia sensorineural deafness and proteinuria
- Faciooculoacousticorenal syndrome
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sensorineural hearing loss, vision problems, and absence or underdeveloped of the corpus callosum (the tissue connecting the left and right halves of the brain). Individuals with Donnai Barrow syndrome may also have a diaphragmatic hernia, omphalocele, or other abnormalities of the intestine or heart. Affected individuals often have mild to moderate intellectual disability and developmental delay. The condition is caused by mutations in the LRP2 gene and is believed the be inherited in an autosomal recessive manner.Donnai Barrow syndrome is an inherited disorder that affects many parts of the body. It is characterized by unusual facial features, severe
Last updated: 2/5/2010
- Donnai-Barrow syndrome. Genetics Home Reference (GHR). 2009; http://ghr.nlm.nih.gov/condition=donnaibarrowsyndrome.
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- Genetics Home Reference (GHR) contains information on Donnai-Barrow syndrome. This website is maintained by the National Library of Medicine.
In Depth Information
- The Online Mendelian Inheritance in Man (OMIM) is an 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 Donnai-Barrow syndrome. Click on the link to view a sample search on this topic.