ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS ANDDIABETES MELLITUS

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 7
OrphanetNr:
OMIM Id: 616192
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:0000407) Sensorineural hearing impairment 524 / 7739
2
 (HPO:0002066) Gait ataxia 327 / 7739
3
 (HPO:0003487) Babinski sign rare [HPO:skoehler] 179 / 7739
4
 (HPO:0100651) Type I diabetes mellitus 44 / 7739
5
 (HPO:0004322) Short stature 1232 / 7739
6
 (HPO:0002059) Cerebral atrophy 171 / 7739
7
 (HPO:0001272) Cerebellar atrophy 197 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: