TABLE 1.

Clinical phenotypes of affected individuals

Individual ID	Sex	Age at onset	Age at diagnosis	Visual acuity OD/OS	Clinical findings
V:3	Female	1 year	10 years	CF/CF	B/L cataract (OP), myopia, skeletal deformations
V:5	Female	1.5 years	7 years	CF/PL	Unilateral cataract, myopia, squint, skeletal deformations, intellectual disability, speech delay
V:6	Male	6 months	5 years	PL/PL	B/L cataract, skeletal deformation, retarded growth

_{Abbreviations: B/L, bilateral; CF, counting fingers; OD, oculus dextrus (right eye); OP, operated; OS, oculus sinister (left eye); PL, perception of light}.