Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001165963.4:c.5536_5539del | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 607208.11 | United Arab Emirates | Delayed speech and language development; Intellectual disability; Ataxia; Seizure; Cerebral atrophy | Male | No | Yes | |
| 607208.12 | United Arab Emirates | Microcephaly; Global developmental delay; Myoclonic seizure | Male | |||
| 607208.13 | United Arab Emirates | Motor delay; Delayed speech and language development; Intellectual disability; Autistic behavior; Seizure | Male | |||
| 607208.14 | United Arab Emirates | Delayed speech and language development; Seizure | Male | |||
| 607208.15 | United Arab Emirates | Delayed speech and language development; Seizure; Macrocephaly; Multiple cafe-au-lait spots; Delayed speech and language development; Autistic behavior; Abnormal periventricular white matter morphology | Male |