Disease #03546 (COXPD8 (combined oxidative phosphorylation deficiency, type 8 (COXPD-8)), OMIM:614096)

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Official abbreviation	COXPD8
Name	combined oxidative phosphorylation deficiency, type 8 (COXPD-8)
OMIM ID	614096
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	-
Phenotype entries for this disease	-
Associated with 1 gene	AARS2
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2021-12-10 21:51:32 +01:00 (CET)

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