Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_032551.4:c.1195T>C | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 614837.1.1 | Tunisia | Microphallus ; Hypoglycemia ; Delayed puberty ; Testicular atrophy | Male | Yes | Yes | Proband. Parents are first cousins. |
| 614837.1.3 | Tunisia | Primary amenorrhea; Hypoglycemia; Delayed puberty | Female | Yes | Yes | Sibling of proband. Non-identical twin to 614837.1.2 |
| 614837.1.G | Tunisia | 2 healthy siblings and healthy parents. Mother's parents are first cousins. |