Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_004713.6:c.2608C>T | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 619099.1.1 | Syria | Intellectual disability; Global developmental delay; Delayed speech and language development; Peripheral axonal neuropathy; Ataxia; Distal amyotrophy; Tremor; Scoliosis; Pectus excavatum | Male | Yes | Patient from 'family AUS1' in the publication | |
| 619099.1.2 | Syria | Male | Father of 619099.1.1 |