Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_018979.4:c.2140-2489del | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 201300.2.2 | Lebanon | Somatic sensory dysfunction; Pain insensitivity; Penetrating foot ulcers; Recurrent bacterial skin infections; Abnormal peripheral myelination; Limb amputations | Male | Yes | Yes | Paternal uncle of 201300.2.1 |
| 201300.2.3 | Lebanon | Somatic sensory dysfunction; Pain insensitivity; Penetrating foot ulcers; Recurrent bacterial skin infections; Abnormal peripheral myelination; Limb amputations | Female | Yes | Yes | Maternal aunt of 201300.2.1 |
| 201300.2.4 | Lebanon | Somatic sensory dysfunction; Pain insensitivity; Penetrating foot ulcers; Recurrent bacterial skin infections; Abnormal peripheral myelination; Limb amputations | Male | Yes | No | Relative of 201300.2.1 |
| 201300.2.5 | Lebanon | Male | Yes | Yes | Unaffected father of 201300.2.1 | |
| 201300.2.6 | Lebanon | Male | Yes | Yes | Unaffected mother of 201300.2.1 |