Disease #07002 (COXPD48 (combined oxidative phosphorylation deficiency, type 48), OMIM:619012)

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Official abbreviation	COXPD48
Name	combined oxidative phosphorylation deficiency, type 48
OMIM ID	619012
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	-
Phenotype entries for this disease	-
Associated with 1 gene	NSUN3
Associated tissues	-
Disease features	-
Remarks	-
Date created	2023-02-04 22:03:02 +01:00 (CET)
Date last edited	N/A

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