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Paramyotonia congenita of Von Eulenburg
1 OMIM reference -
1 associated gene
10 connected diseases
No signs/symptoms info
Disease Type of connection
Acetazolamide-responsive myotonia
Hyperkalemic periodic paralysis
Hypokalemic periodic paralysis
Myotonia fluctuans
Myotonia permanens
Postsynaptic congenital myasthenic syndromes
Catecholaminergic polymorphic ventricular tachycardia
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Romano-Ward syndrome
X-linked non-syndromic intellectual deficit
Synonym(s):
- Paramyotonia congenita

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: unknown
Average age onset: adolescence / young
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: C538616

Gene symbol UniProt reference OMIM reference
SCN4A P35499603967
No signs/symptoms info available.