Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001324036.2:c.139T>C | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 300604.1.1 | Lebanon | Tall stature; Primary amenorrhea; Delayed puberty; Osteoporosis; Fragile teeth | Female | Yes | Yes | Multiply consanguineous family, with multiple members affected by albinism, FMF, Behcet and/or retinitis pigmentosa |
| 300604.1.3 | Lebanon | Primary amenorrhea; Delayed puberty; | Female | Yes | Yes | Sister of 300604.1.1 |
| 300604.1.4 | Lebanon | Primary amenorrhea; Delayed puberty; | Female | Yes | Yes | Sister of 300604.1.1 |
| 300604.1.5 | Lebanon | Primary amenorrhea; Delayed puberty; | Female | Yes | Yes | Sister of 300604.1.1 |
| 300604.1.6 | Lebanon | Female | Yes | Sister of 300604.1.1 | ||
| 300604.1.7 | Lebanon | Female | Mother of 300604.1.1 |