Global Variome shared LOVD

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

Phenotype #0000358781 Individual ID 00473986 Associated disease motor neuron disease Diagnosis/Initial motor neuron disease Diagnosis/Definite - Phenotype details onset 29.5y with fasciculations in distal of upper limb muscle; Upper limb muscle atrophy, distal; Dysarthria; Nasal speech; Generalized muscle fasciculations; Hyperreflexia; Spasticity; EMG_NCV: motor neuron disease; MRI of cervical spine revealed hemangioma in body of C3 spine Inheritance Unknown Age/Examination 33y (33 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - 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

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