| 1 | HACE1, SPPRS |
| HACE1 deficiency causes an autosomal recessive neurodevelopmental syndrome. | |
| Hollstein R, Parry DA, Nalbach L, Logan CV, Strom TM, Hartill VL, Carr IM, Korenke GC, Uppal S, Ahmed M, Wieland T, Markham AF, Bennett CP, Gillessen-Kaesbach G, Sheridan EG, Kaiser FJ, Bonthron DT. | |
| J Med Genet 52(12):797-803. doi: 10.1136/jmedgenet-2015-103344. Epub 2015 Sep 30. 2015 | |