HEXA - Gene browser

HEXA

hexosaminidase subunit alpha

HCNC Approved Symbol: HEXA (HGNC:4878)
Genomic Coordinates: 15:72,340,924 - 72,376,014 (15q23)
Synonyms
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

16Patients

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

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

016
Patient count

Developmental regression: 4 (25.0%)
Patient Count: 4 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (25.0%)
Bilateral convulsive seizures: 2 (12.5%)
Patient Count: 2 (12.5%)
% of total patients presenting each phenotype is shown in parentheses.
2 (12.5%)
Chorea: 2 (12.5%)
Patient Count: 2 (12.5%)
% of total patients presenting each phenotype is shown in parentheses.
2 (12.5%)
Hypotonia: 2 (12.5%)
Patient Count: 2 (12.5%)
% of total patients presenting each phenotype is shown in parentheses.
2 (12.5%)
Spasticity: 2 (12.5%)
Patient Count: 2 (12.5%)
% of total patients presenting each phenotype is shown in parentheses.
2 (12.5%)