Phenotype #0000351613

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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	Curator: Global Variome, with Curator vacancy

Individual ID	00466075
Associated disease	-
Phenotype details	partial biotinidase deficiency
Diagnosis/Initial	partial biotinidase deficiency
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	BTD
Age/Examination	06y (6 years)
Age/Diagnosis	-
Age/Onset	00y02m
Phenotype/Onset	-
Protein	-
Owner name	Maria-Pilar Lopez-Garrido
Database submission license
Created by	Johan den Dunnen
Date created	2025-08-12 16:01:07 +02:00 (CEST)
Date last edited	N/A

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