Disease #05210 (COXPD29 (combined oxidative phosphorylation deficiency, type 29), OMIM:616811)

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Official abbreviation	COXPD29
Name	combined oxidative phosphorylation deficiency, type 29
OMIM ID	616811
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	-
Phenotype entries for this disease	-
Associated with 1 gene	TWF2
Associated tissues	-
Disease features	-
Remarks	-
Date created	2016-12-16 10:25:15 +01:00 (CET)
Date last edited	2023-09-18 12:24:52 +02:00 (CEST)

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