132000.1

Lebanon

Abnormal fingernail morphology; Regional abnormality of skin

Female

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000094.3:c.6082G>A	1		Epidermolysis Bullosa with Congenital Localized Absence of Skin and Deformity of Nails

Father also affected