Unknown
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001854.3:c.2702G>A | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 228520.1.1 | Saudi Arabia | Hypertelorism; Midface retrusion; Wide nasal bridge; Long philtrum; High myopia; Iridodonesis; Lens subluxation; Sensorineural hearing impairment; Thickened calvaria; Platyspondyly; Expressive language delay; Atlantoaxial abnormality | Male | Yes | Yes | Patient 1 in the publication |
| 228520.1.2 | Saudi Arabia | Hypertelorism; Midface retrusion; Lens subluxation; High myopia; Sensorineural hearing impairment; Thickened calvaria; Platyspondyly; Atlantoaxial abnormality; Cataract; Retinal detachment; Visual loss; Accelerated skeletal maturation | Male | Yes | Yes | Patient 2 in the publication, brother of 228520.1.1 |
| 228520.1.3 | Saudi Arabia | Mild short stature; Thickened calvaria | Unknown | Yes | Yes | Sibling of 228520.1.1, mild phenotype noted |
| 228520.1.5 | Saudi Arabia | Mixed hearing impairment; Mild short stature; Thickened calvaria | Male | Father of 228520.1.1, mild phenotype noted | ||
| 228520.1.6 | Saudi Arabia | Mixed hearing impairment; Mild short stature; Thickened calvaria | Female | Mother of 228520.1.1, mild phenotype noted |