ATAXIA WITH MYOCLONIC EPILEPSY AND PRESENILE DEMENTIA

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 9
OrphanetNr:
OMIM Id: 208700
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:0001336) Myoclonus 115 / 7739
2
 (HPO:0001250) Seizures 1245 / 7739
3
 (HPO:0009830) Peripheral neuropathy 206 / 7739
4
 (HPO:0002123) Generalized myoclonic seizures 62 / 7739
5
 (HPO:0001251) Ataxia 413 / 7739
6
 (HPO:0000726) Dementia 131 / 7739
7
 (HPO:0001271) Polyneuropathy 56 / 7739
8
 (OMIM) Myoclonus epilepsy 2 / 7739
9
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: