| 1 | ADGRG1, BFPP, BPP, COFS1, COFS2, DEL22Q11, DEL4Q, EMX2, KMS, MELAS, RTT |
| Genetics of the polymicrogyria syndromes. | |
| Jansen A, Andermann E. | |
| J Med Genet 42(5):369-78. Review. 2005 | |
| 2 | COFS2, ERCC6, COFS1 |
| Manitoba aboriginal kindred with original cerebro-oculo- facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene. | |
| Meira LB, Graham JMJr, Greenberg CR, Busch DB, Doughty AT, Ziffer DW, Coleman DM, Savre-Train I, Friedberg EC. | |
| Am J Hum Genet 66(4):1221-8. 2000 | |
| 3 | COFS2 |
| Autosomal recessive cerebro-oculo-facio-skeletal (COFS) syndrome. | |
| Pena SD, Shokeir MH. | |
| Clin Genet 5(4):285-93. No abstract available. 1974 | |