Phenotype #0000361373

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00476699
Associated disease	mitochondrial
Diagnosis/Initial	mitochondrial disease
Diagnosis/Definite	COXPD8
Phenotype details	see paper; ..., no cardiomyopathy; no gastrointestinal anomalies; elevated lactic level acid; normal creatine kinase level; no ragged red fibers; mild myopathy; cranial MRI T2-weighted hyperintensities in deep cerebral white matter
Inheritance	Familial, autosomal recessive
Age/Examination	9y (9 years)
Age/Diagnosis	-
Age/Onset	0,3y
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2026-04-16 19:04:47 +02:00 (CEST)
Date last edited	N/A

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