Disease #00658 (MTDPS8A (mitochondrial DNA depletion syndrome, type 8A (MTDPS8A, encephalomyopathic type with renal tubulopathy)), OMIM:612075)

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
Register as submitter | Log in

Official abbreviation	MTDPS8A
Name	mitochondrial DNA depletion syndrome, type 8A (MTDPS8A, encephalomyopathic type with renal tubulopathy)
OMIM ID	612075
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	-
Phenotype entries for this disease	-
Associated with 1 gene	RRM2B
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)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.