Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000358314 Individual ID 00473519 Associated disease SMA Phenotype details onset 40y , lower muscle cramps, foot drop, lower muscle weakness with neuropathy, climbing difficulty, chronic anterior horn cell disease reported in EMG/NCV. Diagnosis/Initial spinal myscular atrophy Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination 59y (59 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2026-03-06 17:24:40 +01:00 (CET) Date last edited N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.