Conditions / Syndrome
xeroderma pigmentosum group G
info · Syndrome · ICD-10: Q82.1
A xeroderma pigmentosum that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC5 gene on chromosome 13q33.
Signs and symptoms
- Defective DNA repair after ultraviolet radiation damage
- Cutaneous photosensitivity
- Infantile spasms
- Cataract
- Small for gestational age
- Microcephaly
- Global developmental delay
- Microphthalmia
- Pes cavus
- Ataxia
Also known as: XP group G; XP7; XPG; xeroderma pigmentosum VII