Table 1 Comparison of clinical features of patients with XP, CS, trichothiodystrophy, and this patient10.

From: A Japanese girl with mild xeroderma pigmentosum group D neurological disease diagnosed using whole-exome sequencing

  CS Trichothiodystrophy XP neurological disease Patient with reported case9 This proband
Photosensitivity + + + + +
Increased freckling + +
Skin cancer + +
Dwarfism + + ± + +
Intellectual disability/developmental delay + + + + +
Brain anomaly + + NA
Skeletal abnormalities + ± +
Cataract + + + + +
Sensorineural deafness + + NA
Recurrent infections + +
Ichthyosis +
Brittle hair + +
Other neurological symptoms + + + +
  1. XP xeroderma pigmentosum, CS Cockayne syndrome, NA not available.