LOC102723885
Title: Loc102723885: A Gene Linked to Rare Genetic Disorders
Description:
Loc102723885 is a gene located on chromosome 10 that encodes a protein involved in DNA repair. Mutations in this gene have been associated with several rare genetic disorders.
Associated Diseases:
- Seckel Syndrome: A rare genetic disorder characterized by severe growth retardation, microcephaly (small head), facial abnormalities, and intellectual disability.
- Microcephalic Primordial Dwarfism: A rare genetic disorder that causes extreme dwarfism, microcephaly, and severe intellectual disability.
- Microcephalic Osteodysplastic Primordial Dwarfism Type I (MOPD I): A rare genetic disorder that causes microcephaly, skeletal abnormalities, and intellectual disability.
Did you Know ?
Mutations in the loc102723885 gene account for approximately 10% of Seckel Syndrome cases.
