SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 12
OrphanetNr:
OMIM Id: 615705
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:0000639) Nystagmus 555 / 7739
2
 (HPO:0001250) Seizures common [HPO:skoehler] 1245 / 7739
3
 (HPO:0002317) Unsteady gait 45 / 7739
4
 (HPO:0001270) Motor delay 322 / 7739
5
 (HPO:0001260) Dysarthria 329 / 7739
6
 (HPO:0001251) Ataxia 413 / 7739
7
 (HPO:0001249) Intellectual disability common [HPO:skoehler] 1089 / 7739
8
 (HPO:0001265) Hyporeflexia 208 / 7739
9
 (HPO:0001347) Hyperreflexia 363 / 7739
10
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
11
 (HPO:0001272) Cerebellar atrophy rare [HPO:skoehler] 197 / 7739
12
 (HPO:0003676) Progressive disorder 148 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: