Phenotypes resulting from COL2A1 mutations not in exon 2. Clinical manifestations were scored as 0 absent, 1 mild, 2 moderate, and 3 severe, except for retinal detachments which was scored 1 single eye or 2 both eyes
| 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.