Global Variome shared LOVD

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Phenotype #0000054373 Individual ID 00074617 Associated disease ALS Phenotype details Progressive proximal muscle weakness in upper extremities (HP:0009073), atrophy (HP:?), fasciculation in the left proximal upper arm and hand (HP:0007289), reduced Tendon reflexes (HP:0001315), no Hoffmann sign (-HP:?), no Babinski signs (-HP:0003487), no paraspinal muscle reflex (-HP:?), fasciculations (HP:0002380), serious respiratory disability (HP:0002880) Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset 35y Phenotype/Onset progressive weakness of the left forefinger (HP:?) Protein - Owner name Jamie Zeegers Database submission license No license selected Created by Jamie Zeegers Date created 2016-07-11 12:00:08 +02:00 (CEST) Date last edited 2018-01-20 15:41:41 +01:00 (CET)

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