Summary Literature (0)

DOID:0050526 - Gamstorp-Wohlfart syndrome

Disease Ontology 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.

Synonyms: myokymia, myotonia and muscle wasting, autosomal recessive neuromyotonia and axonal neuropathy

Echinobase Genes : hint1


MIM:

MIM:137200 - neuromyotonia and axonal neuropathy, autosomal recessive; nman

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee