BTD - Gene browser

BTD

biotinidase

HCNC Approved Symbol: BTD (HGNC:1122)
Genomic Coordinates: 3:15,601,361 - 15,722,516 (3p25.1)
Synonyms
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

47Patients

In total, 47 patients were diagnosed with a variant in the BTD gene.

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

047
Patient count

Seizures: 6 (12.8%)
Patient Count: 6 (12.8%)
% of total patients presenting each phenotype is shown in parentheses.
6 (12.8%)
Organic aciduria: 6 (12.8%)
Patient Count: 6 (12.8%)
% of total patients presenting each phenotype is shown in parentheses.
6 (12.8%)
Joint laxity: 4 (8.5%)
Patient Count: 4 (8.5%)
% of total patients presenting each phenotype is shown in parentheses.
4 (8.5%)
Epilepsy: 4 (8.5%)
Patient Count: 4 (8.5%)
% of total patients presenting each phenotype is shown in parentheses.
4 (8.5%)
Microcephaly: 4 (8.5%)
Patient Count: 4 (8.5%)
% of total patients presenting each phenotype is shown in parentheses.
4 (8.5%)