STXBP1 - Gene browser

STXBP1

syntaxin binding protein 1

HCNC Approved Symbol: STXBP1 (HGNC:11444)
Genomic Coordinates: 9:127,611,912 - 127,696,029 (9q34.11)
Synonyms: hUNC18, MUNC18-1, UNC18, rbSec1, nSec1
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

29Patients

In total, 29 patients were diagnosed with a variant in the STXBP1 gene.

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

029
Patient count

Global developmental delay: 8 (27.6%)
Patient Count: 8 (27.6%)
% of total patients presenting each phenotype is shown in parentheses.
8 (27.6%)
Seizures: 8 (27.6%)
Patient Count: 8 (27.6%)
% of total patients presenting each phenotype is shown in parentheses.
8 (27.6%)
Epilepsy: 7 (24.1%)
Patient Count: 7 (24.1%)
% of total patients presenting each phenotype is shown in parentheses.
7 (24.1%)
Hypotonia: 5 (17.2%)
Patient Count: 5 (17.2%)
% of total patients presenting each phenotype is shown in parentheses.
5 (17.2%)
Ataxia: 5 (17.2%)
Patient Count: 5 (17.2%)
% of total patients presenting each phenotype is shown in parentheses.
5 (17.2%)