Unknown
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001256269.1:c.242G>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 603546.2 | Lebanon | Short stature; Delayed skeletal maturation; Congenital hip dislocation; Slender distal phalanx of finger; Kyphoscoliosis; Hemivertebrae; Tracheomalacia; Midface retrusion | No | Yes | de novo mutation |