Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_003906.5:c.2609T>C | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 603294.1.1 | Lebanon | Distal muscle weakness; Foot dorsiflexor weakness; Distal sensory impairment; Arachnoid cyst; Psychosis; Obesity; Type II diabetes mellitus | Female | Yes | No | |
| 603294.1.2 | Lebanon | Distal muscle weakness; Foot dorsiflexor weakness; Distal sensory impairment; Obesity | Male | Yes | No | Sibling of 603294.1.1 |
| 603294.1.3 | Lebanon | Distal muscle weakness; Foot dorsiflexor weakness; Distal sensory impairment; Obesity; Type II diabetes mellitus | Female | Yes | No | Sibling of 603294.1.1 |
| 603294.1.5 | Lebanon | Male | Father of 603294.1.1 |