Disease #05438 (COXPD34 (combined oxidative phosphorylation deficiency, type 34 (COXPD-34)), OMIM:617872)

Official abbreviation	COXPD34
Name	combined oxidative phosphorylation deficiency, type 34 (COXPD-34)
OMIM ID	617872
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	-
Phenotype entries for this disease	-
Associated with 1 gene	MRPS7
Associated tissues	-
Disease features	autosomal recessive
Remarks	-
Date created	2018-06-06 21:09:58 +02:00 (CEST)
Date last edited	2021-12-10 21:51:32 +01:00 (CET)

Screenscraping/webscraping (interacting with LOVD using scripts to download data) is strictly prohibited.
Use our APIs to retrieve data.

Global Variome shared LOVD