SOX5 - Gene browser

SOX5

SRY-box transcription factor 5

HCNC Approved Symbol: SOX5 (HGNC:11201)
Genomic Coordinates: 12:23,529,504 - 24,562,650 (12p12.1)
Synonyms: L-SOX5, MGC35153
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

6Patients

In total, 6 patients were diagnosed with a variant in the SOX5 gene.

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

06
Patient count

Global developmental delay: 3 (50.0%)
Patient Count: 3 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
3 (50.0%)
Adhd: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Intellectual disability: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Strabismus: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)
Facial dysmorphism: 2 (33.3%)
Patient Count: 2 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
2 (33.3%)