Episodic ataxia type 7

Episodic ataxia type 7 (EA7) is an exceedingly rare form of Hereditary episodic ataxia (see this term) characterized by ataxia with weakness, vertigo, and dysarthria without interictal findings.



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Total: 0 (papers)
  


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

Phenotype(s) retrieved from Orphanet

    Total: 11

HPO ID Term Frequency
HP:0001260 Dysarthria Very frequent (99-80%)
HP:0001324 Muscle weakness Very frequent (99-80%)
HP:0002131 Episodic ataxia Very frequent (99-80%)
HP:0002321 Vertigo Very frequent (99-80%)
HP:0000639 Nystagmus Frequent (79-30%)
HP:0000360 Tinnitus Occasional (29-5%)
HP:0000651 Diplopia Occasional (29-5%)
HP:0002076 Migraine Occasional (29-5%)
HP:0002411 Myokymia Occasional (29-5%)
HP:0002487 Hyperkinesis Occasional (29-5%)
HP:0100543 Cognitive impairment Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID