Disease #07028 (COXPD47 (combined oxidative phosphorylation deficiency, type 47), OMIM:618958)

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Official abbreviation	COXPD47
Name	combined oxidative phosphorylation deficiency, type 47
OMIM ID	618958
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	-
Phenotype entries for this disease	-
Associated with 1 gene	MRPS28
Associated tissues	-
Disease features	-
Remarks	-
Date created	2023-09-18 12:21:07 +02:00 (CEST)
Date last edited	N/A

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