Female
Yes
No
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_000383.2:c.1236_1239dup | 2 |
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 |