DYSTONIA WITH RINGBINDEN

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 12
OrphanetNr:
OMIM Id: 224550
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset: Juvenile onset
Childhood onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0001332) Dystonia 197 / 7739
2
 (HPO:0001288) Gait disturbance 318 / 7739
3
 (HPO:0000750) Delayed speech and language development 197 / 7739
4
 (HPO:0001347) Hyperreflexia 363 / 7739
5
 (HPO:0002072) Chorea 53 / 7739
6
 (HPO:0003307) Hyperlordosis 122 / 7739
7
 (OMIM) EEG with focal discharge 1 / 7739
8
 (OMIM) Muscle biopsy with small A-fibers, increased PAS-positive material, and ringbinden (disoriented myofibrils) 1 / 7739
9
 (HPO:0003621) Juvenile onset 105 / 7739
10
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
11
 (OMIM) Chorea of hands 1 / 7739
12
 (HPO:0011463) Childhood onset 65 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: