240300.1.2

Saudi Arabia

Adrenal insufficiency; Hypoparathyroidism; Chronic mucocutaneous candidiasis; Nephrocalcinosis; Primary gonadal insufficiency;

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

Sister of 240300.1.2

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
240300.1.1	Saudi Arabia	Adrenal insufficiency; Hypoparathyroidism; Chronic mucocutaneous candidiasis; Alopecia universalis;	Female	Yes	No