Microcephalies
Primary microcephaly, recessive
Seckel syndrome, recessive
Dwarfism, microcephalic osteodysplastic primordial type1 (MOPD1), recessive
| Gene | OMIM | Method |
| RNU4atac | 601428 | Sequencing |
Dwarfism, microcephalic osteodysplastic primordial type 2 (MOPD2), recessive
| Gene | OMIM | Method |
| PCNT | 605925 | Sequencing |
Nijmegen breakage syndrome, recessive
| Gene | OMIM | Method |
| NBN (NBS1) | 602667 | Sequencing |
Nijmegen breakage syndrome-like
Epileptic encephalopathy
Other microcephaly/dwarfism syndromes, recessive