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autosomal dominant slowed nerve conduction velocity

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Autosomal dominant slowed nerve conduction velocity is a hereditary demyelinating motor and sensory neuropathy characterized by slowed nerve conduction velocities, in the absence of clinically apparent neurological deficits, gait abnormalities or muscular atrophy, associated with a germline mutation in the ARGHEF10 gene.
Uniprot Description Affected individuals present a reduction in nerve conduction velocities without any clinical signs of peripheral or central nervous system dysfunction. SNCV inheritance is autosomal dominant.
Mondo Term and Equivalent IDs
MONDO:0011998:  autosomal dominant slowed nerve conduction velocity
MESH:C564269: 
Orphanet:140481: 
SCTID:764854006: 
UMLS:C1842357: