LOC100287225
Loc100287225: A Comprehensive Guide to a Rare Genetic Disorder
Description
Loc100287225 is a rare genetic disorder caused by mutations in the LOC100287225 gene. This gene is located on chromosome 10 and is responsible for providing instructions for the production of a protein that plays a role in the development of the brain and other organs.
Mutations in the LOC100287225 gene disrupt the production or function of this protein, leading to a range of physical and cognitive symptoms. The severity of the disorder can vary depending on the specific nature of the mutation.
Associated Diseases
Loc100287225 has been associated with several diseases and conditions, including:
- Intellectual disability
- Autism spectrum disorder
- Speech and language impairments
- Motor coordination problems
- Seizures
- Vision problems
- Heart defects
- Gastrointestinal issues
Did you Know ?
Only about 30 individuals worldwide have been diagnosed with Loc100287225, making it an extremely rare disorder.