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 |
- |
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