LOC63930
Loc63930: A Gene Linked to Rare Diseases
Description
Loc63930 is a gene located on the long arm of chromosome 16. It encodes a protein of unknown function. However, mutations in this gene have been associated with several rare genetic diseases.
Associated Diseases
Mutations in loc63930 have been linked to the following rare diseases:
- Autosomal recessive intellectual disability 77 (ARID77): A condition characterized by intellectual disability, developmental delay, and behavioral problems.
- Joubert syndrome 48 (JBTS48): A developmental disorder characterized by brainstem abnormalities, intellectual disability, and ocular colobomas (notches in the iris).
- Microcephaly and intellectual disability (MCID): A condition characterized by an abnormally small head circumference and intellectual disability.
Did you Know ?
The prevalence of loc63930 mutations is estimated to be around 1 in 200,000 individuals. This makes these associated diseases extremely rare.
