Phenotype #0000223976

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00296570
Associated disease	?
Diagnosis/Initial	multiple mitochondrial respiratory chain complex deficiency
Diagnosis/Definite	-
Phenotype details	muscle affected; central nervous system affected; heart affected; liver not affected; deafness, renal dysplasia, lactic acidosis
Inheritance	Familial, autosomal recessive
Age/Examination	5y (5 years)
Age/Diagnosis	-
Age/Onset	18m
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-04-08 15:05:07 +02:00 (CEST)
Date last edited	N/A

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