Currently, this gene is not associated with any human disease in OMIM. However, the following publication(s) suggest a possible gene disease association.
Diagnosed Cases
1Patient
In total, 1 patient was diagnosed with a variant in the UNC13A gene.
Frequently observed phenotypes(Top 5 only)
(Top 5 only, Patient count*) *% of total patients presenting each phenotype is shown in parentheses.
01 Patient count
Burst suppression on eeg
1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Encephalopathy
1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Epicanthal folds
1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Feeding difficulties
1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Global developmental delay
1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
Back to List
