Individuals | ED168 | ED210 | ED241 | ||||||
---|---|---|---|---|---|---|---|---|---|
IV-1 | IV-2 | IV-4 | IV-6 | IV-3 | IV-4 | IV-1 | IV-2 | IV-5 | |
Gender | Female | Male | Male | Male | Female | Male | Male | Male | Female |
Age (years) | 38 | 35 | 27 | 23 | 17 | 8 | 25 | 15 | 12 |
Height | 5′4″ | 5′8″ | 5′6″ | 5′6″ | 4′9″ | 3′4″a | 5′7″ | 5′1″ | 4′5″a |
Gestation | Normal | Normal | Normal | Normal | Normal | Normal | Normal | Normal | Normal |
Hair features | |||||||||
-Brittle hair | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes |
-Dystrophic shaft | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes |
-Hair growth | Slow | Slow | Slow | Slow | Slow | Slow | Slow | Slow | Slow |
-Diffuse hair fall | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes |
Eyebrows | Sparse | Sparse | Sparse | Sparse | Sparse | Sparse | Sparse | Absent | Absent |
Eyelashes | Sparse | Sparse | Sparse | Sparse | Sparse | Sparse | Sparse | Absent | Absent |
Beard | - | Less dense | Less dense | Less dense | - | - | Less dense | - | - |
Aged appearance | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes |
Intellectual disability | Mild | Mild | Mild | Mild | Mild | Mild | Mild | Mild | Mild |
Speech | Slurred | Slurred | Slurred | Slurred | Slurred | Slurred | Slurred | Slurred | Slurred |
Epilepsy | No | Yes | No | No | No | No | No | No | No |
Ocular features | |||||||||
-Blurred vision | Yes | Yes | No | No | Yes | Yes | Yes | Yes | Yes |
-Corneal bulging | Yes | Yes | No | No | No | No | No | No | No |
-Corneal opacity | No | Yes | No | No | No | No | No | No | No |
Recurrent rhinosinusitis | Severe | Severe | Mild | Mild | Mild | Mild | Mild | Mild | Mild |
High-arched Palate | Yes | ? | Yes | Yes | Yes | Yes | Yes | Yes | Yes |
Teeth | Normal | Normal | Irregular, Hypodontia | Normal | Normal | Irregular, Hypodontia | Irregular | Normal | Normal |
Skeletal structure | Normal | Normal | Normal | Normal | Normal | Normal | Normal | Normal | Normal |
Ichthyosis | No | No | No | No | No | No | No | No | No |
UV sensitivity | No | No | No | No | No | No | No | No | No |
Nails | Normal | Grooved | Grooved | Normal | Thick | Normal | Dystrophic | Dystrophic | Dystrophic |
Mitral regurgitation | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes | Yes |