Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001034850.3:c.873+2T>C | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 613115.2.1 | United Arab Emirates | Digital ulcer; Osteomyelitis leading to amputation due to slow healing fractures; Sensory axonal neuropathy; Somatic sensory dysfunction | Male | Yes | Yes |