SPINOCEREBELLAR ATAXIA 40

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 8
OrphanetNr:
OMIM Id: 616053
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0002313) Spastic paraparesis 33 / 7739
2
 (HPO:0002075) Dysdiadochokinesis 40 / 7739
3
 (HPO:0001260) Dysarthria 329 / 7739
4
 (HPO:0001347) Hyperreflexia 363 / 7739
5
 (HPO:0002317) Unsteady gait 45 / 7739
6
 (HPO:0002136) Broad-based gait 30 / 7739
7
 (HPO:0002080) Intention tremor 44 / 7739
8
 (HPO:0006879) Pontocerebellar atrophy 6 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: