Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_002529.4:c.429-1G>C | 1 | NA | ||
| NM_002529.4:c.253C>A | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 256800.3.1 | United Arab Emirates | Pain insensitivity; Anhidrosis; Failure to thrive; Self-mutilation; Autoamputation of digits | Male | No | Yes | Patient from 'family KI-102' in Mardy et al. 1999 |
| 256800.3.3 | United Arab Emirates | Female | Mother of 256800.3.1 |