Table 1 of Yang, Mol Vis 2008; 14:2304-2308. Table 1 of Yang, Mol Vis 2008; 14:2304-2308.
Table 1. Clinical features of the two affected patients.
| Phenotype | IV:2 | IV:4 |
|---|---|---|
| Gender | Male | Male |
| Current age (Y) | 37 | 32 |
| Retinal dystrophy | Yes | Yes |
| Ptosis | Yes | Yes |
| Strabismus | Yes | Yes |
| Obesity (BMI) | Yes (25.6) | Yes (25.2) |
| Developmental delay | Severe | Severe |
| Hypogenitalism | Yes | Yes |
| Learning/comprehension | Delayed | Delayed |
| Speech development | Delayed | Delayed |
| Memory | Poor | Poor |
| Motor skills | Delayed | Delayed |
| Hypotonia | Yes | Yes |
| Dental architecture | Normal | Normal |
| Tongue morphology | Enlarged | Enlarged |
| Voice | Raspy | Raspy |
| Behavior | Labile | Labile |
| Polydactyly | Yes | Yes |
| Renal abnormality | Yes | Yes |
| Eye movement | Restrict | Restrict |
| Diabetes | No | No |