Phenotype #0000357014

Individual ID 00472205
Associated disease SACS
Phenotype details Fasciculations * Lower limb amyotrophy * Distal myopathy * Distal hereditary motor neuropathy * Young adult-onset distal hereditary * motor neuropathy
Diagnosis/Initial Distal myopathy
Inheritance Isolated (sporadic)
Diagnosis/Definite Spastic ataxia, Charlevoix-Saguenay type
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Camille Verebi
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Camille Verebi
Date created 2026-01-15 16:41:26 +01:00 (CET)
Date last edited 2026-02-06 10:21:15 +01:00 (CET)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.