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Disease Browser
Parent Node:
expandSpinocerebellar Ataxias (D020754)
..Starting node
..expandSpinocerebellar ataxia 20 (C537199)

       Child Nodes:



 Sister Nodes: 
..expandAnemia, sideroblastic spinocerebellar ataxia (C536358)
..expandAtaxia Telangiectasia (D001260) Child6
..expandChorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism (C565850)
..expandGemignani syndrome (C537678)
..expandMachado-Joseph Disease (D017827) Child1
..expandMITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) (OMIM:271245)
..expandSpastic Ataxia (C564815)
..expandSpastic ataxia Charlevoix-Saguenay type (C536787)
..expandSpinocerebellar Ataxia 10 (C566874)
..expandSpinocerebellar Ataxia 11 (C565772)
..expandSpinocerebellar Ataxia 12 (C565790)
..expandSpinocerebellar Ataxia 15 (C564685)
..expandSpinocerebellar Ataxia 17 (C564616)
..expandSpinocerebellar ataxia 20 (C537199)
..expandSpinocerebellar ataxia 25 (C537202)
..expandSpinocerebellar ataxia 26 (C537203)
..expandSpinocerebellar ataxia 30 (C575214)
..expandSpinocerebellar Ataxia 31 (C566146)
..expandSpinocerebellar Ataxia And Plaque-Like Deposits (C566671)
..expandSpinocerebellar Ataxia with Dysmorphism (C564802)
..expandSpinocerebellar Ataxia with Epilepsy (C564395)
..expandSpinocerebellar Ataxia With Rigidity And Peripheral Neuropathy (C566669)
..expandSpinocerebellar Ataxia, Autosomal Recessive 7 (C563753)
..expandSpinocerebellar Ataxia, Autosomal Recessive 8 (C565188)
..expandSpinocerebellar Ataxia, Autosomal Recessive 9 (C567436)
..expandSpinocerebellar Ataxia, X-Linked 1 (C563134)
..expandSpinocerebellar Ataxia, X-Linked 5 (C567478)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:10500
Name:Spinocerebellar ataxia 20
Definition:
Alternative IDs:OMIM:608687
ParentIDs:MESH:D020754
TreeNumbers:C10.228.140.252.190.530/C537199 |C10.228.140.252.700.700/C537199 |C10.228.854.787.875/C537199 |C10.574.500.825.700/C537199 |C10.597.350.090.500.530/C537199 |C16.320.400.780.875/C537199
Synonyms:CHROMOSOME 11q12 DUPLICATION SYNDROME, 260-KB |SCA20 |Spinocerebellar ataxia type 20 |Spinocerebellar Ataxia With Dysphonia |Spinocerebellar Ataxia With Spasmodic Cough
Slim Mappings:Genetic disease (inborn)|Nervous system disease
Reference: MedGen: C537199
MeSH: C537199
OMIM: 608687;

Genes: AF8T;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0003581Adult onset
3 HP:0007256Abnormal pyramidal sign
4 HP:0001260Dysarthria
5 HP:0001618Dysphonia
6 HP:0002066Gait ataxia
7 HP:0001620High pitched voice
8 HP:0007338Hypermetric saccades
9 HP:0002070Limb ataxia
10 HP:0000639Nystagmus
11 HP:0010530Palatal myoclonus
12 HP:0002174Postural tremor
13 HP:0003677Slowly progressive
Disease Causing ClinVar Variants