Table 2

Phenotypes resulting from COL2A1 exon 2 mutations. Clinical manifestations were scored as 0 absent, 1 mild, 2 moderate, and 3 severe, except for retinal detachment, which was scored 1 single eye or 2 both eyes

FamilyOcular phenotypeArticular phenotypeAural phenotypeOro-facial phenotype
MyopiaRetinal detachmentJoint hypermobilityRadiological joint abnormalityConductive lossSensoineural lossMidfacial hypoplasiaAbnormal nasal developmentMidline clefting
Mean score1.
  • NA = not applicable because of prophylactic treatment. ND = not determined.