Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000351613 Individual ID 00466075 Associated disease BTDD 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 Creative Commons Attribution 4.0 International 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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