613953.7

Saudi Arabia

Onycholysis; Ichthyosis; Chronic mucocutaneous candidiasis

Male

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_014339.7:c.1574T>C	2		Immunodeficiency 51

Related Subjects

Subject Id	Country	HPO Terms	Sex	Parental Consanguinity	Remarks
613953.1	Saudi Arabia	Chronic mucocutaneous candidiasis; Pustule; Folliculitis	Male	Yes	Patient from 'kindred A' in Lévy et al. 2016.
613953.5	Saudi Arabia	Immunodeficiency	Male	Yes
613953.6	Saudi Arabia	Chronic oral candidiasis	Male	Yes