240300.6

Saudi Arabia

Hypoparathyroidism; Chronic mucocutaneous candidiasis; ; ; ;

Male

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000383.3:c.845_846insC	2		Autoimmune Polyendocrine Syndrome, Type I, with or without Reversible Metaphyseal Dysplasia

Affected first cousin not genotyped