Global Variome shared LOVD

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Phenotype #0000352773 Individual ID 00467563 Associated disease FRBRL Phenotype details see paper; ..., severe; 34m-deceased; hoarseness of voice; joint pain, joint contractures; subcutaneous nodules; pulmonary disease, cardiac disease; palpable liver; normal fundus; developmental delay, no seizures Diagnosis/Initial Farber disease Inheritance Familial, autosomal recessive Diagnosis/Definite FRBRL Age/Examination - Age/Diagnosis 23m Age/Onset 8m Phenotype/Onset - Protein - Owner name Mohamed A. Elmonem Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-10-22 09:49:32 +02:00 (CEST) Date last edited N/A

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