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BCKDK

branched chain keto acid dehydrogenase kinase

HCNC Approved Symbol
BCKDK (HGNC:16902)
Genomic Coordinates
16:31,108,386 - 31,117,640 (16p11.2)
Synonyms
Disease Associations
This gene is associated with the following 1 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Branched-chain keto acid dehydrogenase kinase deficiency
614923AR

Diagnosed Cases

0Patient

There are no patients diagnosed with a variant in the BCKDK gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

No Results