Phenotype #0000352769

Individual ID 00301342
Associated disease FRBRL
Phenotype details see paper; ..., severe; 22m-deceased; hoarseness of voice; joint pain, joint contractures; subcutaneous nodules; pulmonary disease, no cardiac disease; no organomegaly; developmental delay, no seizures
Diagnosis/Initial Farber lipogranulomatosis
Inheritance Familial, autosomal recessive
Diagnosis/Definite FRBRL
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2025-10-22 09:03:14 +02:00 (CEST)
Date last edited 2025-10-22 09:38:22 +02:00 (CEST)

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