240300.5

Saudi Arabia

Adrenal insufficiency; Hypoparathyroidism; Chronic mucocutaneous candidiasis; Alopecia universalis; ; ;

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000383.3:c.1A>G	2		Autoimmune Polyendocrine Syndrome, Type I, with or without Reversible Metaphyseal Dysplasia

Affected sister not genotyped