Disease #01886 (PDHXD (Pyruvate dehydrogenase e3-binding protein deficiency), OMIM:245349)

Official abbreviation PDHXD
Name Pyruvate dehydrogenase e3-binding protein deficiency
OMIM ID 245349
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 0
Phenotype entries for this disease 0
Associated with 1 gene PDHX
Associated tissues -
Disease features -
Remarks -