Phenotype #0000302527

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00410422
Associated disease	?
Diagnosis/Initial	suspected mitochondriopathy
Diagnosis/Definite	COXPD23
Phenotype details	see paper; ..., 1d-deceased, hypertrophic cardiomyopathy, Kussmaul breathing, stridor, hypotonic, hyporeactivity, right ventricular hypertrophy, lactid acidosis
Inheritance	Familial, autosomal recessive
Age/Examination	1d
Age/Diagnosis	-
Age/Onset	1d
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-05-26 09:28:08 +02:00 (CEST)
Date last edited	N/A

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