Table 2.
Summary of the Phenotypic Finding of Affected Individuals in Family PKRP179: Individuals V:1, V:5, V:7, and V:10
| Individual ID | V:1 | V:5 | V:7 | V:10 |
|---|---|---|---|---|
| RP (age at the time of first detection) | 4 yrs | 3 yrs | 2 yrs | 3 yrs |
| Developmental delay | No | No | No | No |
| Tongue morphology | Normal | Normal | Normal | Normal |
| Dental architecture | Normal | Normal | Normal | Normal |
| Learning disability | No | No | No | No |
| Spastic paraplegia | None | None | None | None |
| Kidney defects | None | None | None | None |
| Behavior: speech | Normal | Normal | Normal | Normal |
| Behavior: walk | Normal | Normal | Normal | Normal |
| Polydactyly | None | None | None | None |
| Colobomas | None | None | None | None |
| Type II diabetes | None | None | None | None |
| Deafness | None | None | None | None |
| Weight (lb) | 158 | 113 | 125 | 90 |
| Height (in) | 75 | 68 | 70 | 61 |
| Body mass index | 19.7 | 17.2 | 17.9 | 17.0 |
Note: The weight and height of the affected individuals V:1, V: 5, V:7, and V:10 were recorded at ages 29, 24, 21, and 16, respectively.