Phenotype #0000352770

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00467560
Associated disease	FRBRL
Phenotype details	see paper; ..., severe; 31m-deceased; hoarseness of voice; joint pain, joint contractures; subcutaneous nodules; pulmonary disease, cardiac disease; hepatosplenomegaly; normal fundus; developmental delay, no seizures
Diagnosis/Initial	Farber disease
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	FRBRL
Age/Examination	-
Age/Diagnosis	29m
Age/Onset	4m
Phenotype/Onset	-
Protein	-
Owner name	Mohamed A. Elmonem
Database submission license
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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