SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 11
OrphanetNr:
OMIM Id: 615768
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 rare [HPO:skoehler] 555 / 7739
2
 (HPO:0000544) External ophthalmoplegia rare [HPO:skoehler] 40 / 7739
3
 (HPO:0002078) Truncal ataxia 41 / 7739
4
 (HPO:0011448) Ankle clonus rare [HPO:skoehler] 31 / 7739
5
 (HPO:0001260) Dysarthria 329 / 7739
6
 (HPO:0001257) Spasticity rare [HPO:skoehler] 251 / 7739
7
 (HPO:0002317) Unsteady gait 45 / 7739
8
 (HPO:0002070) Limb ataxia 41 / 7739
9
 (HPO:0001337) Tremor rare [HPO:skoehler] 200 / 7739
10
 (HPO:0001272) Cerebellar atrophy 197 / 7739
11
 (HPO:0001321) Cerebellar hypoplasia 114 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: