CREBBP - Gene browser

CREBBP

CREB binding protein

HCNC Approved Symbol: CREBBP (HGNC:2348)
Genomic Coordinates: 16:3,725,054 - 3,880,713 (16p13.3)
Synonyms: RTS, CBP, KAT3A, RSTS
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

43Patients

In total, 43 patients were diagnosed with a variant in the CREBBP gene.

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

043
Patient count

Global developmental delay: 15 (34.9%)
Patient Count: 15 (34.9%)
% of total patients presenting each phenotype is shown in parentheses.
15 (34.9%)
Broad thumbs: 9 (20.9%)
Patient Count: 9 (20.9%)
% of total patients presenting each phenotype is shown in parentheses.
9 (20.9%)
Microcephaly: 9 (20.9%)
Patient Count: 9 (20.9%)
% of total patients presenting each phenotype is shown in parentheses.
9 (20.9%)
Facial dysmorphism: 6 (14.0%)
Patient Count: 6 (14.0%)
% of total patients presenting each phenotype is shown in parentheses.
6 (14.0%)
Intellectual disability: 6 (14.0%)
Patient Count: 6 (14.0%)
% of total patients presenting each phenotype is shown in parentheses.
6 (14.0%)