Female
No
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001854.3:c.3708+437T>G | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 228520.3.1 | Oman | Wide anterior fontanel; Proptosis; Midface retrusion; Depressed nasal ridge; Narrow mouth; Cleft palate; Short neck; Limb undergrowth; Limb joint contracture; Myopia; Severe sensorineural hearing impairment; Kyphosis; Cataract; Cupped ribs; Platyspondyly; Pear-shaped vertebrae; Hypoplastic ilia; Narrow greater sciatic notch; Dumbbell-shaped long bone; Metaphyseal irregularity; Global developmental delay; Pectus carinatum; Ectopic calcification; Retinal degeneration | Female | No | Yes | Patient III.7 from family 'FB' in the publication |
| 228520.3.3 | Oman | Wide anterior fontanel; Proptosis; Midface retrusion; Depressed nasal ridge; Cleft palate; Short neck; Limb undergrowth; Cupped ribs; Platyspondyly; Pear-shaped vertebrae; Hypoplastic ilia; Narrow greater sciatic notch; Dumbbell-shaped long bone; Metaphyseal irregularity; Ectopic calcification | Male | No | Yes | Patient III.2 from family 'FB' in the publication, brother of 228520.3.1 |
| 228520.3.4 | Oman | Wide anterior fontanel; Proptosis; Midface retrusion; Depressed nasal ridge; Short neck; Limb undergrowth; Cupped ribs; Platyspondyly; Pear-shaped vertebrae; Hypoplastic ilia; Narrow greater sciatic notch; Dumbbell-shaped long bone; Metaphyseal irregularity | Male | No | Yes | Patient III.4 from family 'FB' in the publication, brother of 228520.3.1 |
| 228520.3.5 | Oman | Wide anterior fontanel; Proptosis; Midface retrusion; Depressed nasal ridge; Short neck; Narrow mouth; Limb undergrowth; Cupped ribs; Platyspondyly; Pear-shaped vertebrae; Hypoplastic ilia; Narrow greater sciatic notch; Dumbbell-shaped long bone; Metaphyseal irregularity | Female | No | Yes | Patient III.5 from family 'FB' in the publication, sister of 228520.3.1 |
| 228520.3.6 | Oman | Wide anterior fontanel; Proptosis; Midface retrusion; Depressed nasal ridge; Short neck; Cleft palate; Limb undergrowth; Cupped ribs; Platyspondyly; Pear-shaped vertebrae; Hypoplastic ilia; Narrow greater sciatic notch; Dumbbell-shaped long bone; Metaphyseal irregularity; Ectopic calcification | Female | No | Yes | Patient III.8 from family 'FB' in the publication, sister of 228520.3.1 |
| 228520.3.7 | Oman | High myopia; Strabismus | Female | No | Yes | Patient III.6 with mild symptoms from family 'FB' in the publication, twin-sister of 228520.3.1 |
| 228520.3.8 | Oman | Cataract | Male | Yes | Father of 228520.3.1, mild phenotype noted | |
| 228520.3.9 | Oman | Female | Mother of 228520.3.1 |