Disease #04351 (COXPD6 (oxidative phosphorylation deficiency, combined, type 6 (COXPD-6)), OMIM:300816)

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Official abbreviation	COXPD6
Name	oxidative phosphorylation deficiency, combined, type 6 (COXPD-6)
OMIM ID	300816
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	X-linked recessive
Individuals reported having this disease	-
Phenotype entries for this disease	-
Associated with 1 gene	AIFM1
Associated tissues	-
Disease features	-
Remarks	-
Date created	2015-09-23 10:25:22 +02:00 (CEST)
Date last edited	2021-12-10 21:51:32 +01:00 (CET)

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