LOC100130370
Title: Loc100130370: A Gene Linked to Rare Genetic Disorders
Description:
Loc100130370 is a gene located on chromosome 10 that plays a crucial role in cellular function. Mutations in this gene can lead to a range of rare genetic disorders, characterized by developmental abnormalities and intellectual disabilities. Understanding the role of loc100130370 in these disorders helps shed light on the complex mechanisms of human development and genetics.
Associated Diseases:
Mutations in loc100130370 have been associated with the following genetic disorders:
- Seckel Syndrome: A rare disorder characterized by severe growth restriction, microcephaly (small head size), and intellectual disability.
- Microcephaly with Microphthalmia: A disorder that affects the size of the head (microcephaly) and eyes (microphthalmia).
- Developmental and Epileptic Encephalopathy (DEE): A condition that affects brain development, causing seizures, developmental delays, and intellectual disability.
Did you Know ?
According to the National Library of Medicine's Genetic and Rare Diseases Information Center (GARD), loc100130370 mutations account for approximately 10% of cases of Seckel Syndrome.
