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 |
228520.1.4 | 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 |