Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_002972.4:c.1327G>A | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 615284.3.2 | Saudi Arabia | Syndactyly; Upper limb muscle weakness; Lower limb muscle weakness; Cognitive impairment; Weakness of facial musculature; Areflexia; Exotropia; Ophthalmoparesis; Polyneuropathy; Dysphagia; Microcephaly; Short stature; Strabismus | Male | Yes | Yes | Brother of 615284.3.1 |
| 615284.3.3 | Saudi Arabia | Syndactyly; Upper limb muscle weakness; Lower limb muscle weakness; Cognitive impairment; Weakness of facial musculature; Areflexia; Exotropia; Ophthalmoparesis; Strabismus; Urinary incontinence; Microcephaly; Brain atrophy; Polyneuropathy | Male | Yes | Yes | Brother of 615284.3.1 |