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Roussy-Levy syndrome

Disease Summary
Associated Targets (2)
Tbio

2


GARD Rare
Uniprot Description Autosomal dominant disorder that resembles Charcot-Marie-Tooth disease type 1 in that it presents with foot deformity, weakness and atrophy of distal limb muscles, especially the peronei, and absent tendon reflexes. The phenotype differs, however, in that it includes static tremor of the upper limbs and gait ataxia.
Mondo Term and Equivalent IDs
MONDO:0008392:  Roussy-Levy syndrome
GARD:0004741: 
Orphanet:3115: 
SCTID:45853006: