| 1 | SCAR22, VWA3B |
| A homozygous mutation of VWA3B causes cerebellar ataxia with intellectual disability. | |
| Kawarai T, Tajima A, Kuroda Y, Saji N, Orlacchio A, Terasawa H, Shimizu H, Kita Y, Izumi Y, Mitsui T, Imoto I, Kaji R. | |
| J Neurol Neurosurg Psychiatry 87(6):656-62. doi: 10.1136/jnnp-2014-309828. Epub 2015 Jul 8. 2016 | |