Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_139278.4:c.494+1G>C | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 620007.1.1 | Jordan | Global developmental delay; Hyporeflexia; Abnormality of peripheral nervous system electrophysiology; EMG: myokymic discharges; Abnormality of limb bone morphology | Male | Yes | Yes | Index patient from 'family 2' in the publication |
| 620007.1.2 | Jordan | Global developmental delay; Hyporeflexia; EMG: myokymic discharges; Abnormality of limb bone morphology | Male | Yes | Yes | Brother of 620007.1.1 |
| 620007.1.3 | Jordan | Male | Father of 620007.1.1 |