BCKDHB - Gene browser

BCKDHB

branched chain keto acid dehydrogenase E1 subunit beta

HCNC Approved Symbol: BCKDHB (HGNC:987)
Genomic Coordinates: 6:80,106,610 - 80,466,676 (6q14.1)
Synonyms: OVD1B
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

15Patients

In total, 15 patients were diagnosed with a variant in the BCKDHB gene.

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

015
Patient count

Elevated plasma branched chain amino acids: 8 (53.3%)
Patient Count: 8 (53.3%)
% of total patients presenting each phenotype is shown in parentheses.
8 (53.3%)
Intellectual disability: 3 (20.0%)
Patient Count: 3 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (20.0%)
Abnormality of branched chain family amino acid metabolism: 3 (20.0%)
Patient Count: 3 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (20.0%)
Coma: 1 (6.7%)
Patient Count: 1 (6.7%)
% of total patients presenting each phenotype is shown in parentheses.
1 (6.7%)
Encephalopathy: 1 (6.7%)
Patient Count: 1 (6.7%)
% of total patients presenting each phenotype is shown in parentheses.
1 (6.7%)