248300.G.1

Palestine

Palmoplantar keratoderma; Maceration; Hyperkeratosis; Recurrent fungal infections

Male

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_020427.3:c.256G>A	26		Mal de Meleda

13 members of a large family (8 females and 5 males)