Disease #02490 (MC5DN1 (mitochondrial complex V (ATP synthase) deficiency, nuclear, type 1 (MC5DN-1)), OMIM:604273)

Official abbreviation	MC5DN1
Name	mitochondrial complex V (ATP synthase) deficiency, nuclear, type 1 (MC5DN-1)
OMIM ID	604273
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	-
Phenotype entries for this disease	-
Associated with 1 gene	ATPAF2
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2021-12-10 21:51:32 +01:00 (CET)

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Global Variome shared LOVD