Phenotype #0000231995

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00306151
Associated disease	LS
Inheritance	Familial, autosomal recessive
Diagnosis/Initial	Leigh syndrome
Age/Examination	-
Diagnosis/Definite	ECHS1D
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Phenotype details	see paper; ..., fatal Leigh disease, increased excretion of S-(2-carboxypropyl)cysteine and several other metabolites
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-07-09 13:51:08 +02:00 (CEST)
Date last edited	N/A

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