TH - Gene browser

TH

tyrosine hydroxylase

HCNC Approved Symbol: TH (HGNC:11782)
Genomic Coordinates: 11:2,163,929 - 2,171,815 (11p15.5)
Synonyms: DYT5b
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

16Patients

In total, 16 patients were diagnosed with a variant in the TH gene.

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

016
Patient count

Dystonia: 7 (43.8%)
Patient Count: 7 (43.8%)
% of total patients presenting each phenotype is shown in parentheses.
7 (43.8%)
Spasticity: 4 (25.0%)
Patient Count: 4 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (25.0%)
Dystonia, generalized: 4 (25.0%)
Patient Count: 4 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (25.0%)
Developmental regression: 4 (25.0%)
Patient Count: 4 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (25.0%)
Gross motor delay: 4 (25.0%)
Patient Count: 4 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (25.0%)