Modified diagnostic criteria
| Primary features |
|---|
| Four features are required to be present of: |
| Rod-cone dystrophy |
| Polydactyly |
| Obesity |
| Learning disabilities |
| Hypogonadism in males |
| Renal anomalies |
| or |
| Three primary plus two secondary features are required of: |
| Secondary features |
| Speech disorder/delay |
| Strabismus/cataracts/astigmatism |
| Brachydactyly/syndactyly |
| Developmental delay |
| Polyuria/polydipsia (nephrogenic diabetes insipidus) |
| Ataxia/poor coordination/imbalance |
| Mild spasticity (especially lower limbs) |
| Diabetes mellitus |
| Dental crowding/ hypodontia/small roots/high arched palate |
| Left ventricular hypertrophy/congenital heart disease |
| Hepatic fibrosis |