SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 18
OrphanetNr:
OMIM Id: 616204
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:0000543) Optic disc pallor rare [HPO:skoehler] 67 / 7739
2
 (HPO:0000639) Nystagmus 555 / 7739
3
 (HPO:0000657) Oculomotor apraxia 54 / 7739
4
 (HPO:0000565) Esotropia 58 / 7739
5
 (HPO:0002075) Dysdiadochokinesis 40 / 7739
6
 (HPO:0001347) Hyperreflexia rare [HPO:skoehler] 363 / 7739
7
 (HPO:0002078) Truncal ataxia 41 / 7739
8
 (HPO:0002066) Gait ataxia 327 / 7739
9
 (HPO:0003487) Babinski sign rare [HPO:skoehler] 179 / 7739
10
 (HPO:0001310) Dysmetria 76 / 7739
11
 (HPO:0002311) Incoordination 84 / 7739
12
 (HPO:0001263) Global developmental delay 853 / 7739
13
 (HPO:0001260) Dysarthria 329 / 7739
14
 (HPO:0100543) Cognitive impairment 230 / 7739
15
 (HPO:0002465) Poor speech 31 / 7739
16
 (HPO:0001371) Flexion contracture rare [HPO:skoehler] 220 / 7739
17
 (HPO:0001252) Muscular hypotonia 990 / 7739
18
 (HPO:0001272) Cerebellar atrophy 197 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: