Phenotype #0000326672

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00436494
Associated disease	?
Diagnosis/Initial	encephalomyopathy
Diagnosis/Definite	COXPD48
Phenotype details	see paper; ..., early-onset mitochondrial encephalomyopathy; 4m-lactic acidosis, global developmental delay, hypotonia, muscle weakness, seizures
Inheritance	Familial, autosomal recessive
Age/Examination	00y08m (8 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-09-18 21:56:42 +02:00 (CEST)
Date last edited	2023-09-18 22:01:01 +02:00 (CEST)

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