Phenotype #0000233161

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00307447
Associated disease	MTDPS
Diagnosis/Initial	mitochondrial DNA depletion syndromes
Diagnosis/Definite	-
Phenotype details	characteristic phenotype (Neonatal cholestasis, failure to thrive, metabolic acidosis)
Inheritance	Familial, autosomal recessive
Age/Examination	3m
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-08-13 16:04:48 +02:00 (CEST)
Date last edited	N/A

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