Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_016373.3:c.410-17474_516+10296del | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 616211.1.1 | United Arab Emirates | Seizure; Horizontal nystagmus; Flexion contracture; Hand clenching; Spasticity; Hyperreflexia; Inguinal hernia; Hypsarrhythmia; Cerebral atrophy; Polymicrogyria; Optic atrophy; Unilateral deafness | Male | No | Yes |