Phenotype #0000340317

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00451656
Associated disease	-
Phenotype details	Epilepsy, Dolichocephaly, Prominent glabella, Broad nasal bridge, Cupped ears, Antihelix, stem, underdeveloped, Scoliosis
Diagnosis/Initial	Biotinidase deficiency
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Biotinidase deficiency
Age/Examination	-
Age/Diagnosis	00y11m
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Miriam Erandi Reyna-Fabián
Database submission license
Created by	Miriam Erandi Reyna-Fabián
Date created	2024-06-21 21:45:49 +02:00 (CEST)
Date last edited	2024-06-28 09:53:36 +02:00 (CEST)

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