Male
Yes
No
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001304717.5:c.101C>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 158350.1 | Saudi Arabia | Global developmental delay; Macrocephaly | Male | No | Yes | de novo mutation |
| 158350.2 | Saudi Arabia | Hyperpigmentation of the skin; Macrocephaly; Abnormal facial shape | Male | No | No | de novo mutation |
| 158350.3 | Saudi Arabia | Macrocephaly; Delayed speech and language development; Arachnoid cyst; Hamartoma; Lipoma; Gait disturbance | Female | No | Yes | de novo mutation |