DLG4 - Gene browser

DLG4

discs large MAGUK scaffold protein 4

HCNC Approved Symbol: DLG4 (HGNC:2903)
Genomic Coordinates: 17:7,187,187 - 7,220,050 (17p13.1)
Synonyms: PSD-95, PSD95, SAP90, SAP-90
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

8Patients

In total, 8 patients were diagnosed with a variant in the DLG4 gene.

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

08
Patient count

Intellectual disability: 4 (50.0%)
Patient Count: 4 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (50.0%)
Abnormal facial shape: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Hypertelorism: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Specific learning disability: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Global developmental delay: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)