ATAXIA-OCULOMOTOR APRAXIA 4

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 8
OrphanetNr:
OMIM Id: 616267
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:0000657) Oculomotor apraxia 54 / 7739
2
 (HPO:0002445) Tetraplegia 26 / 7739
3
 (HPO:0001284) Areflexia 198 / 7739
4
 (HPO:0001251) Ataxia 413 / 7739
5
 (HPO:0001332) Dystonia 197 / 7739
6
 (HPO:0009830) Peripheral neuropathy 206 / 7739
7
 (HPO:0100543) Cognitive impairment rare [HPO:skoehler] 230 / 7739
8
 (HPO:0001272) Cerebellar atrophy 197 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: