Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001673.4:c.146G>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 615574.4.1 | United Arab Emirates | Seizure; Microcephaly; Severe global developmental delay; Absent speech; Intellectual disability; Delayed gross motor development; Hyperactivity; Self-injurious behavior; Oral-pharyngeal dysphagia; Reduced visual acuity | Male | Yes | Yes |