133540.1.1

Lebanon

Short stature ; Cutaneous photosensitivity ; Localized skin lesion ; Low-set ears ; Microcephaly ; Deeply set eye ; Dry skin

Female

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000124.4:c.2008C>T	2		Cockayne Syndrome B