Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000257.4:c.5702A>T | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 608358.1.1 | Saudi Arabia | Pectus excavatum; Restrictive ventilatory defect; Skeletal muscle atrophy; Muscle weakness | Male | Yes | Yes | |
| 608358.1.2 | Saudi Arabia | Loss of ambulation; Hyperthyroidism; Hypertension | Female | Yes | Mother of 608358.1.1 | |
| 608358.1.3 | Saudi Arabia | Foot dorsiflexor weakness; Muscle weakness | Female | Yes | Yes | Sister of 608358.1.1 |
| 608358.1.4 | Saudi Arabia | Decreased fetal movement; Minimal subcutaneous fat; High palate; Muscle weakness; Skeletal muscle atrophy | Male | Yes | Yes | Brother of 608358.1.1 |
| 608358.1.6 | Saudi Arabia | High palate; Narrow jaw | Male | Yes | Yes | Brother of 608358.1.1 |
| 608358.1.7 | Saudi Arabia | Gowers sign; Foot dorsiflexor weakness; Scapular winging; Achilles tendon contracture; Knee flexion contracture | Male | Yes | Yes | Brother of 608358.1.1 |
| 608358.1.8 | Saudi Arabia | Minimal subcutaneous fat; Skeletal muscle atrophy; Muscle weakness | Female | Yes | Yes | Sister of 608358.1.1 |
| 608358.1.9 | Saudi Arabia | Dysarthria; Scoliosis; Foot dorsiflexor weakness; Loss of ambulation; Scapular winging; Proximal muscle weakness; Distal muscle weakness; Achilles tendon contracture; Knee flexion contracture | Male | Yes | Yes | Brother of 608358.1.1 |