Table 1.

Comparison of clinical features of patients with XP, XP neurological disease, XP/CS, and CS [11,12].

Clinical Features	XP	XP Neurological Disease	XP/CS	CS
Molecular defects	XP-A, -B, -C, -D, -E, -F and XP-V	XP-A and XP-D followed by XP-B, XP-G, and XP-F	XP-B, XP-D, XP-G	CS-A, CS-B
Skin sun sensitivity	+	+	+	+
Increased freckling	+	+	+	-
Sunlight—induced skin cancer	+	+	+	-
Photophobia	+	+	+	+
Anterior eye cancer	+	+	+	-
Retinal degeneration	-	-	+	+
Sensorineural deafness	-	+	+	+
Developmental delay	-	+	+	+
Progressive neurological degeneration	-	+	+	+
Primary neuronal degeneration	-	+	-	-
Demyelination of brain	-	-	+	+
Cerebral atrophy	-	+	+	+
Cerebellar atrophy	-	+	+	+
Calcification (basal ganglia)	-	-	+	+

“+”—indicated clinical feature is associated with the disease; “-”—this clinical feature does not observed.