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General Information
ZIRC
OBO ID: DOID:0050526
Term Name: Gamstorp-Wohlfart syndrome Search Ontology:
Synonyms:
  • autosomal recessive neuromyotonia and axonal neuropathy
  • myokymia, myotonia and muscle wasting
Definition: A syndrome characterized by progressive weakness and atrophy of muscles in feet, legs and hands. In some patients the syndrome also causes decreased sensitivity to touch, heat or cold, particularly in the lower arms or legs. http://ghr.nlm.nih.gov/condition/autosomal-recessive-axonal-neuropathy-with-neuromyotonia
References:
Ontology: Human Disease   (DOID:0050526)
Relationships
is a type of:
OTHER Gamstorp-Wohlfart syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
HINT1 Neuromyotonia and axonal neuropathy, autosomal recessive 137200
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None