SETD5 - Gene browser

SETD5

SET domain containing 5

HCNC Approved Symbol: SETD5 (HGNC:25566)
Genomic Coordinates: 3:9,397,615 - 9,478,154 (3p25.3)
Synonyms: FLJ10707, SETD5A
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

24Patients

In total, 24 patients were diagnosed with a variant in the SETD5 gene.

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

024
Patient count

Global developmental delay: 7 (29.2%)
Patient Count: 7 (29.2%)
% of total patients presenting each phenotype is shown in parentheses.
7 (29.2%)
Intellectual disability: 4 (16.7%)
Patient Count: 4 (16.7%)
% of total patients presenting each phenotype is shown in parentheses.
4 (16.7%)
Hypotonia: 3 (12.5%)
Patient Count: 3 (12.5%)
% of total patients presenting each phenotype is shown in parentheses.
3 (12.5%)
Abnormal facial shape: 3 (12.5%)
Patient Count: 3 (12.5%)
% of total patients presenting each phenotype is shown in parentheses.
3 (12.5%)
Delayed speech and language development: 2 (8.3%)
Patient Count: 2 (8.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (8.3%)