Table 2.
The number of mutations and types in FGFR3 in HGMD database
| Disease/phenotype | Number of mutations |
|---|---|
| Hypochondroplasia | 28 |
| Thanatophoric dysplasia | 15 |
| Achondroplasia | 11 |
| Craniosynostosis | 4 |
| Lacrimo-auriculo-dento-digital syndrome | 2 |
| Short stature ? | 2 |
| Skeletal dysplasia | 2 |
| Acanthosis nigricans | 1 |
| Achondroplasia ? | 1 |
| Achondroplasia with developmental delay & acanthosis nigricans | 1 |
| Achondroplasia with severe Platyspondyly | 1 |
| Camptodactyly, tall stature and hearing loss syndrome | 1 |
| Cleft lip and palate ? | 1 |
| Crouzon syndrome with acanthosis nigricans | 1 |
| Prostate cancer | 1 |
| Prostate cancer and additional primary cancers | 1 |
| Seborrhoeic keratosis ? | 1 |
| Short stature | 1 |
| Tall stature, lateral tibial deviation, scoliosis, hearing impairment, camptodactyly and arachnodactyly | 1 |
| Thanatophoric dysplasia, type 2 | 1 |
| Wilms tumour | 1 |