Description | OMIM Number |
DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA | 125370 |
DYSTROPHIA MYOTONICA 1 | 160900 |
DYSTROPHIA MYOTONICA 2; DM2 | 602668 |
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1; FSHD1 | 158900 |
FRAGILE X MENTAL RETARDATION SYNDROME | 300624 |
FRIEDREICH ATAXIA 1; FRDA | 229300 |
HUNTINGTON DISEASE; HD | 143100 |
MACHADO-JOSEPH DISEASE; MJD | 109150 |
MUSCULAR DYSTROPHY LIMB-GIRDLE TYPE 2A; LGMD2A | 253600 |
SPINOCEREBELLAR ATAXIA 1; SCA1 | 164400 |
SPINOCEREBELLAR ATAXIA 7; SCA7 | 164500 |