Female
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 | |
240300.2.4 | Saudi Arabia | Hypoparathyroidism; ; | Male | Yes | No | Brother 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 |