Family | Ocular phenotype | Articular phenotype | Aural phenotype | Oro-facial phenotype | |||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Myopia | Retinal detachment | Joint hypermobility | Radiological joint abnormality | Conductive loss | Sensoineural loss | Midfacial hypoplasia | Abnormal nasal development | Midline clefting | |||||||
MS2 | |||||||||||||||
II-2 | 3 | NA | 1 | 1 | 0 | 0 | 1 | 0 | 3 | ||||||
III-1 | 2 | NA | 1 | 0 | 2 | 0 | 0 | 0 | 3 | ||||||
III-2 | 3 | NA | 0 | 0 | 2 | 1 | 2 | 2 | 3 | ||||||
MS18 | |||||||||||||||
II-2 | 2 | 0 | 2 | 2 | 0 | 3 | 1 | 1 | 3 | ||||||
III-1 | 2 | 0 | 2 | 1 | ND | ND | 1 | 2 | 3 | ||||||
MS20 | |||||||||||||||
II-1 | 2 | NA | 2 | 1 | 0 | 2 | 2 | 2 | 2 | ||||||
II-4 | 0 | 2 | 1 | ND | 1 | 1 | 2 | 0 | 2 | ||||||
II-5 | 0 | 1 | 0 | 2 | 0 | 0 | 0 | 1 | 2 | ||||||
III-1 | 3 | 2 | 3 | 0 | 3 | 3 | 2 | 1 | 3 | ||||||
III-2 | 3 | NA | 2 | 0 | 0 | 2 | 2 | 1 | 2 | ||||||
MS54 | |||||||||||||||
I-1 | 2 | 1 | 0 | 1 | 0 | 2 | 1 | 1 | 2 | ||||||
II-2 | 0 | 2 | 0 | 1 | 1 | 0 | 1 | 1 | 0 | ||||||
MS66 | |||||||||||||||
I-2 | 1 | 2 | 1 | 2 | 0 | 1 | 0 | 1 | 0 | ||||||
II-2 | 1 | 1 | 2 | 2 | 0 | 0 | 1 | 2 | 1 | ||||||
III-1 | 1 | 0 | 0 | 0 | 1 | 0 | 1 | 1 | 3 | ||||||
Mean score | 1.7 | 1.1 | 1.1 | 0.9 | 0.7 | 1.0 | 1.1 | 1.1 | 2.1 |
NA = not applicable because of prophylactic treatment. ND = not determined.