Female
No
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000314.6:c.331T>G | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 158350.1 | United Arab Emirates | Global developmental delay; Macrocephaly | Male | No | Yes | de novo mutation |
| 158350.2 | United Arab Emirates | Hyperpigmentation of the skin; Macrocephaly; Abnormal facial shape | Male | No | No | de novo mutation |
| 158350.4 | United Arab Emirates | Microcephaly; Intellectual disability; Seizure; Cerebral atrophy; Scoliosis; Hip dislocation; Hyperpigmentation of the skin | Male | Yes | No |