Global Variome shared LOVD

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

Phenotype #0000125664 Individual ID 00152721 Associated disease ALS Phenotype details atrophy inarms, hands, distal lower extremities, paravertebral muscles, asymmetric tetraparesis, diminished tendon reflexes, unresponsive plantar reflexes; 20y lost ambulation Diagnosis/Initial sclerosis, lateral, amyotrophic Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 47y (47 years) Age/Diagnosis - Age/Onset 31y 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 2018-02-09 09:21:18 +01:00 (CET) Date last edited N/A

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