chromosome | gene symbol | phenotype |
| 22q12.3-q13.1 | LARGE like-glycosyltransferase | Congenital muscular dystrophy with severe mental retardation -MDC1D
|
| 22q13 | CHKB choline kinase beta | Congenital muscle dystrophy with mitochondrial structural abnormalities -MDCMC
|
| 22q13.31 | ATXN10 ataxin 10 | Spinocerebellar ataxia 10 -SCA10
|