240300.1.1

Saudi Arabia

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

Female

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000383.2:c.1236_1239dup	2		Autoimmune Polyendocrine Syndrome, Type I, with or without Reversible Metaphyseal Dysplasia

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
240300.1.2	Saudi Arabia	Adrenal insufficiency; Hypoparathyroidism; Chronic mucocutaneous candidiasis; Nephrocalcinosis; Primary gonadal insufficiency;	Female	Yes	No	Sister of 240300.1.2