Male
Yes
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000383.2:c.93_94insT | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 240300.2.1 | Saudi Arabia | Hypoparathyroidism; Chronic mucocutaneous candidiasis; Alopecia universalis; Type I diabetes mellitus; ; | Male | Yes | No | First cousin of 240300.2.2 |
| 240300.2.2 | Saudi Arabia | Hypoparathyroidism; Hypothyroidism; ; ; | Male | Yes | No | |
| 240300.2.3 | Saudi Arabia | Adrenal insufficiency; Hypoparathyroidism; Hypothyroidism; Chronic mucocutaneous candidiasis; Alopecia universalis; Nephrocalcinosis; ; ; ; | Female | Yes | No | Sister of 240300.2.2 |
| 240300.2.5 | Saudi Arabia | Hypoparathyroidism; ; Chronic mucocutaneous candidiasis; Alopecia universalis; Diabetes mellitus; ; | Male | Yes | No | First cousin of 240300.2.2 |