All diseases

MSeqDR-LSDB Mitochondrial Disease Locus Specific Database

LOVD v.3.0 Build 21 [ Current LOVD status ]
Register as submitter | Log in

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

1 entry on 1 page. Showing entry 1.

ID	Abbreviation	Name	OMIM ID	Individuals	Phenotypes	Associated with genes	Associated tissues	Disease features
00479	PDHLD	PYRUVATE DEHYDROGENASE LIPOIC ACID SYNTHETASE DEFICIENCY; PDHLD	614462	0	0	LIAS	-	-