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 |