Global Variome shared LOVD

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

Phenotype #0000296529 Individual ID 00403830 Associated disease ALS Phenotype details 30y-progressive bulbar manifestations, followed by progressive upper and lower limb weakness and wasting within 6 years, hyperreflexia, intact abdominal reflex, Babinski sign and intact sensation; maternal female cousin with similar condition Diagnosis/Initial ALS Inheritance Familial, autosomal recessive Diagnosis/Definite ALS Age/Examination 50y (50 years) Age/Diagnosis 32y Age/Onset 30y Phenotype/Onset 30y Protein - Owner name Sherifa Ahmed Hamed Database submission license Creative Commons Attribution-ShareAlike 4.0 International Created by Sherifa Ahmed Hamed Date created 2022-02-24 15:46:51 +01:00 (CET) Date last edited 2022-02-25 09:02:12 +01:00 (CET)

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