SON - Gene browser

SON

SON DNA and RNA binding protein

HCNC Approved Symbol: SON (HGNC:11183)
Genomic Coordinates: 21:33,543,038 - 33,577,481 (21q22.11)
Synonyms: DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914, C21orf50
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

20Patients

In total, 20 patients were diagnosed with a variant in the SON gene.

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

020
Patient count

Global developmental delay: 9 (45.0%)
Patient Count: 9 (45.0%)
% of total patients presenting each phenotype is shown in parentheses.
9 (45.0%)
Strabismus: 6 (30.0%)
Patient Count: 6 (30.0%)
% of total patients presenting each phenotype is shown in parentheses.
6 (30.0%)
Generalized hypotonia: 4 (20.0%)
Patient Count: 4 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (20.0%)
Intellectual disability: 4 (20.0%)
Patient Count: 4 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (20.0%)
Small for gestational age: 4 (20.0%)
Patient Count: 4 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
4 (20.0%)