| 1 | HIVEP2, MRD43 |
| Loss-of-function variants in HIVEP2 are a cause of intellectual disability. | |
| Srivastava S, Engels H, Schanze I, Cremer K, Wieland T, Menzel M, Schubach M, Biskup S, Kreiß M, Endele S, Strom TM, Wieczorek D, Zenker M, Gupta S, Cohen J, Zink AM, Naidu S. | |
| Eur J Hum Genet 24(4):556-61. doi: 10.1038/ejhg.2015.151. Epub 2015 Jul 8. 2016 | |
| 2 | HIVEP2, MRD43 |
| Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features. | |
| Steinfeld H, Cho MT, Retterer K, Person R, Schaefer GB, Danylchuk N, Malik S, Wechsler SB, Wheeler PG, van Gassen KL, Terhal PA, Verhoeven VJ, van Slegtenhorst MA, Monaghan KG, Henderson LB, Chung WK. | |
| Neurogenetics 17(3):159-64. doi: 10.1007/s10048-016-0479-z. Epub 2016 Mar 22. 2016 | |