Disease #07027 (COXPD49 (combined oxidative phosphorylation deficiency, type 49), OMIM:619024)

Global Variome shared LOVD

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Official abbreviation	COXPD49
Name	combined oxidative phosphorylation deficiency, type 49
OMIM ID	619024
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	-
Phenotype entries for this disease	-
Associated with 1 gene	SMCR7
Associated tissues	-
Disease features	-
Remarks	-
Date created	2023-09-18 12:14:28 +02:00 (CEST)
Date last edited	N/A

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