Ramsay-Hunt syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: RAMSAY HUNT SYNDROME
Myoclonus ataxia
Number of Symptoms 14
OrphanetNr: 3020
OMIM Id: 159700
ICD-10: G11.1
UMLs:
MeSH: C535287
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
Heterogeneous
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Rare disease with myoclonus as a major feature
 -Rare neurologic disease
Rare genetic disease with myoclonus as a major feature
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0002080) Intention tremor 44 / 7739
2
 (HPO:0001336) Myoclonus 115 / 7739
3
 (HPO:0002197) Generalized seizures Occasional [HPO:skoehler] 30 / 7739
4
 (HPO:0001251) Ataxia 413 / 7739
5
 (HPO:0012103) Abnormality of the mitochondrion 7 / 7739
6
 (HPO:0003200) Ragged-red muscle fibers 37 / 7739
7
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
8
 (OMIM) Ragged-red fibers on muscle biopsy 2 / 7739
9
 (OMIM) Degeneration of globus pallidus 1 / 7739
10
 (OMIM) Lesion of cerebellar dentate nucleus 1 / 7739
11
 (OMIM) Occasional tonic-clonic seizures 1 / 7739
12
 (HPO:0100321) Abnormality of the dentate nucleus 3 / 7739
13
 (HPO:0007132) Pallidal degeneration 3 / 7739
14
 (OMIM) Elevated cerebrospinal fluid uric acid 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: