FAM196A
Title: FAM196A: An Essential Gene with Implications for Human Health
Description:
FAM196A is a gene that plays a crucial role in various cellular processes, including mitotic chromosome segregation and DNA repair. Mutations in this gene have been linked to a spectrum of genetic disorders and diseases.
Associated Diseases:
- Seckel syndrome: A rare genetic disorder characterized by severe growth retardation, microcephaly, and facial abnormalities.
- Microcephalic primordial dwarfism: A rare condition involving extreme dwarfism, intellectual disability, and microcephaly.
- Cornelia de Lange syndrome: A rare genetic disorder that affects multiple body systems, including facial features, intellectual development, and肢体 deformities.
- CHARGE syndrome: A rare genetic disorder characterized by eye defects, heart anomalies, and deaf-mutism.
Did you Know ?
Approximately 1 in 100,000 individuals is affected by Seckel syndrome, highlighting the rarity of FAM196A-related genetic disorders.
