Primary dystonia, DYT27 type




Input patient's signs and symptoms


Narrow down the case reports



Total: 0 (papers)
  


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 8

HPO ID Term Frequency
HP:0012048 Oromandibular dystonia Very frequent (99-80%)
HP:0012049 Laryngeal dystonia Very frequent (99-80%)
HP:0002345 Action tremor Frequent (79-30%)
HP:0002356 Writer's cramp Frequent (79-30%)
HP:0002451 Limb dystonia Frequent (79-30%)
HP:0002530 Axial dystonia Frequent (79-30%)
HP:0004373 Focal dystonia Frequent (79-30%)
HP:0007351 Upper limb postural tremor Frequent (79-30%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
COL6A3 collagen type VI alpha 3 chain 1293