Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001034850.3:c.926C>G | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 613115.1.1 | Saudi Arabia | Digital ulcer; Osteomyelitis leading to amputation due to slow healing fractures; Sensory axonal neuropathy; Hyperhidrosis; Urinary incontinence; Somatic sensory dysfunction | Female | Yes | Yes | |
| 613115.1.2 | Saudi Arabia | Digital ulcer; Osteomyelitis leading to amputation due to slow healing fractures; Hyperhidrosis; Urinary incontinence; Somatic sensory dysfunction; Sensory axonal neuropathy | Male | Yes | Yes | Sibling of 613115.1.1 |
| 613115.1.3 | Saudi Arabia | Digital ulcer; Osteomyelitis leading to amputation due to slow healing fractures; Sensory axonal neuropathy; Hyperhidrosis; Urinary incontinence; Somatic sensory dysfunction | Female | Yes | Yes | Sibling of 613115.1.1 |