Skeletal diseases
Osteogenesis imperfecta, dominant
Osteogenesis imperfecta, recessive
Osteoporosis with fractures, X-dominant
| Gene | OMIM | Method |
| PLS3 | 300131 | Sequencing |
Juvenile/early-onset osteoporosis, dominant
Osteoporosis pseudoglioma (OPPG) syndrome, recessive
| Gene | OMIM | Method |
| LRP5 | 603506 | Sequencing |
Osteopetrosis type 1, dominant
| Gene | OMIM | Method |
| LRP5 | 603506 | Sequencing |
Syndromic osteogenesis imperfecta/Cole-Carpenter syndrome, dominant
| Gene | OMIM | Method |
| P4HB | 176790 | Sequencing |
Syndromic osteogenesis imperfecta/Cole-Carpenter syndrome, recessive
Hypophosphatasia, dominant/recessive
| Gene | OMIM | Method |
| ALPL | 171760 | Sequencing |
Bruck syndrome, recessive
| Gene | OMIM | Method |
| PLOD2 | 601865 | Sequencing |
Cranio-lenticulo-sutural dysplasia, recessive
| Gene | OMIM | Method |
| SEC23A | 610511 | Sequencing |