ATAXIA, DEAFNESS, AND CARDIOMYOPATHY

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 10
OrphanetNr:
OMIM Id: 208750
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
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:0008527) Congenital sensorineural hearing impairment 165 / 7739
3
 (HPO:0000365) Hearing impairment 539 / 7739
4
 (HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
5
 (HPO:0001251) Ataxia 413 / 7739
6
 (HPO:0001249) Intellectual disability 1089 / 7739
7
 (HPO:0000951) Abnormality of the skin 147 / 7739
8
 (HPO:0001638) Cardiomyopathy 192 / 7739
9
 (OMIM) Lentigines 3 / 7739
10
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: