xeroderma pigmentosum group D

info · Syndrome · ICD-10: Q82.1

A xeroderma pigmentosum that has_material_basis_in homozygous or compound heterozygous mutation in the excision repair gene ERCC2 on chromosome 19q13.

Signs and symptoms

Cutaneous photosensitivity
Hyporeflexia
Melanoma
Microcephaly
Defective DNA repair after ultraviolet radiation damage
Dermal atrophy
Choreoathetosis
Keratitis
Ataxia
Cataract

Also known as: XP group D; XP group H; XP4; XP8; XPD