| Diagnostic mucocutaneous features |
|
| • Skin pigmentation chagnes |
88-89 |
| • Nail dystrophy |
73-88 |
| • Leukoplakia |
64-78 |
| Eye abnormalities, excessive tearing |
31-38 |
| Pulmonary fibrosis |
20 |
| Learning difficulties or developmental delay |
14-25 |
| Teeth abnormalities |
17-19 |
| Hair loss or early graying |
16-18 |
| Hyperhidrosis |
10-15 |
| Short stature |
14 |
| Gastrointestinal abnormalities (liver fibrosis, esophageal strictures, ulcers, malabsorption) |
14 |
| Malignancy |
10-12 |
| Microcephaly |
8 |
| Urinary tract abnormalities (urethral stricture, phimosis) |
7 |
| Cerebellar hypoplasia, ataxia |
7 |
| Gonadal abnormalities (hypogonadism, cryptorchidism) |
1-5 |
