Disease #00479

Official abbreviation PDHLD
Name PYRUVATE DEHYDROGENASE LIPOIC ACID SYNTHETASE DEFICIENCY; PDHLD
OMIM ID 614462
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 0
Phenotype entries for this disease 0
Associated with 1 gene LIAS
Associated tissues -
Disease features -
Remarks -