autosomal dominant cerebellar ataxia +
digenic disease +

acrocallosal syndrome
AMED syndrome
autosomal dominant cerebellar ataxia, deafness and narcolepsy
autosomal recessive nonsyndromic deafness 1A
autosomal-mitochondrial sensorineural deafness
cerebellar ataxia type 41
cerebellar ataxia type 42
cerebellar ataxia type 43
cerebellar ataxia type 47
cerebellar ataxia type 48
cerebellar ataxia type 9
craniosynostosis 7
dentatorubral-pallidoluysian atrophy
dyskeratosis congenita +
facioscapulohumeral muscular dystrophy 2
facioscapulohumeral muscular dystrophy 3
facioscapulohumeral muscular dystrophy 4
GRID2-related spinocerebellar ataxia
hereditary coproporphyria
hereditary hypophosphatemic rickets with hypercalciuria
hypomyelinating leukoencephalopathy
iminoglycinuria
Joubert syndrome 15
Joubert syndrome 9
long QT syndrome 1
long QT syndrome 2
long QT syndrome 3
long QT syndrome 5
long QT syndrome 6
long QT syndrome 9
Machado-Joseph disease
methylmalonic aciduria and homocystinuria type cblC
nonprogressive cerebellar ataxia with mental retardation
ocular albinism with sensorineural deafness
oculocutaneous albinism type IB
Parkinson's disease 6
primary pulmonary hypertension
proteasome-associated autoinflammatory syndrome 1
proteasome-associated autoinflammatory syndrome 3
retinitis pigmentosa 7
short-rib thoracic dysplasia 7 with or without polydactyly
spinocerebellar ataxia 1
spinocerebellar ataxia 10
spinocerebellar ataxia 11
spinocerebellar ataxia 12
spinocerebellar ataxia 13
spinocerebellar ataxia 14
spinocerebellar ataxia 15
spinocerebellar ataxia 18
spinocerebellar ataxia 19/22
spinocerebellar ataxia 2
spinocerebellar ataxia 20
spinocerebellar ataxia 21
spinocerebellar ataxia 23
spinocerebellar ataxia 25
spinocerebellar ataxia 26
spinocerebellar ataxia 27A
spinocerebellar ataxia 27B
spinocerebellar ataxia 28
spinocerebellar ataxia 29
spinocerebellar ataxia 30
spinocerebellar ataxia 31
spinocerebellar ataxia 34
spinocerebellar ataxia 35
spinocerebellar ataxia 36
spinocerebellar ataxia 37
spinocerebellar ataxia 38
spinocerebellar ataxia 4
spinocerebellar ataxia 40
spinocerebellar ataxia 44
spinocerebellar ataxia 45
spinocerebellar ataxia 46
spinocerebellar ataxia 5
spinocerebellar ataxia 6
spinocerebellar ataxia 7
spinocerebellar ataxia 8
Usher syndrome type 1D
Usher syndrome type 2C
Waardenburg syndrome type 2A