Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_182548.4:c.472C>T | 1 | |||
| NM_001163673.1:c.388C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 610185.1.1 | United Arab Emirates; Yemen | Profound sensorineural hearing impairment; Delayed speech and language development; Cerebellar atrophy | Female | Yes | Yes | Emirati family of Yemeni origin |