Ophthalmologic phenotypes
| Phenotype | No. |
|---|---|
| General visual impairment | 19/21 (90%) |
| Cerebral visual impairmenta | 10/20 (50%) |
| Optic atrophy/optic disc pallor | 18/21 (86%) |
| Optic nerve hypoplasia/small optic nervea | 8/20 (40%) |
| Nystagmusa | 12/20 (60%) |
| Alacrima or decreased tear productiona | 15/19 (79%) |
↵a Incomplete data.