CCDC130
cddc130
Description
cddc130 is a gene that encodes a protein involved in cell division and DNA repair. Mutations in cddc130 have been linked to a rare genetic disorder known as microcephalic primordial dwarfism (MPD). Individuals with MPD typically have severe growth retardation, intellectual disability, and characteristic facial features.
Associated Diseases
Microcephalic Primordial Dwarfism (MPD)
MPD is a rare genetic disorder characterized by:
- Severe growth retardation
- Microcephaly (small head size)
- Intellectual disability
- Distinctive facial features, including a broad forehead, wide-set eyes, and a small nose
Etiology: Mutations in the cddc130 gene
Prevalence: Estimated at 1 in 100,000 to 200,000 live births
Inheritance: Autosomal recessive
Did you Know ?
According to a study published in the journal "Human Genetics," approximately 75% of individuals with MPD have mutations in the cddc130 gene. This suggests that mutations in this gene are a major cause of this disorder.
