Conditions / Syndrome
xeroderma pigmentosum group B
info · Syndrome · ICD-10: Q82.1
A xeroderma pigmentosum characterized by that has_material_basis_in mutation in the ERCC3 gene on chromosome 2q14.
Signs and symptoms
- Neoplasm
- Short stature
- Cerebellar atrophy
- Pigmentary retinopathy
- Ataxia
- Cutaneous melanoma
- Cataract
- Ventriculomegaly
- Hypogonadism
- Progeroid facial appearance
Also known as: XP group B; XPB; XPBC