TAFAZZIN - Gene browser

TAFAZZIN

tafazzin, phospholipid-lysophospholipid transacylase

HCNC Approved Symbol: TAFAZZIN (HGNC:11577)
Genomic Coordinates: 23:154,411,539 - 154,421,726 (Xq28)
Synonyms: BTHS, G4.5, TAZ1, CMD3A, EFE2, EFE, TAZ
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

2Patients

In total, 2 patients were diagnosed with a variant in the TAFAZZIN gene.

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

02
Patient count

Axial hypotonia: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Joint laxity: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Motor delay: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Dilated cardiomyopathy: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)
Failure to thrive: 1 (50.0%)
Patient Count: 1 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (50.0%)