Phenotype #0000343337

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	00454709
Associated disease	mitochondrial
Diagnosis/Initial	pyruvate dehydrogenase complex deficiency
Diagnosis/Definite	-
Phenotype details	pshycomotor delay, hypotonia
Inheritance	Familial, X-linked dominant
Age/Examination	-
Age/Diagnosis	-
Age/Onset	<1y
Phenotype/Onset	-
Owner name	Daniele Ghezzi
Database submission license
Created by	Johan den Dunnen
Date created	2024-09-25 11:50:46 +02:00 (CEST)
Date last edited	N/A

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