Craniofacial diseases
Hypochondroplasia, achondroplasia, dominant
| Gene | OMIM | Method |
| FGFR3 | 134934 | Sequencing |
ALSG syndrome, LADD syndrome, dominant
Syndromic craniosynostoses, dominant
Craniosynostosis type 4, dominant
| Gene | OMIM | Method |
| ERF | 61188 | Sequencing |
Craniosynostosis and tooth abnormalities, recessive
| Gene | OMIM | Method |
| IL11RA | 600939 | Sequencing |