Global Variome shared LOVD

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Phenotype #0000346173 Individual ID 00457715 Associated disease ? Diagnosis/Initial neuropathy Diagnosis/Definite LCHADD Phenotype details see paper; ..., neuropathy (axonal, sensorimotor), distal muscle atrophy, elevated creatine kinase (max. 2473 U/l), left rebnal dyplasia, small stature Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis 13y Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-11-16 12:42:20 +01:00 (CET) Date last edited N/A

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