CHD7 - Gene browser

CHD7

chromodomain helicase DNA binding protein 7

HCNC Approved Symbol: CHD7 (HGNC:20626)
Genomic Coordinates: 8:60,678,740 - 60,868,028 (8q12.2)
Synonyms: KIAA1416, FLJ20357, FLJ20361, CRG
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

83Patients

In total, 83 patients were diagnosed with a variant in the CHD7 gene.

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

083
Patient count

Global developmental delay: 19 (22.9%)
Patient Count: 19 (22.9%)
% of total patients presenting each phenotype is shown in parentheses.
19 (22.9%)
Laryngomalacia: 15 (18.1%)
Patient Count: 15 (18.1%)
% of total patients presenting each phenotype is shown in parentheses.
15 (18.1%)
Atrial septal defect: 11 (13.3%)
Patient Count: 11 (13.3%)
% of total patients presenting each phenotype is shown in parentheses.
11 (13.3%)
Low set ears: 10 (12.0%)
Patient Count: 10 (12.0%)
% of total patients presenting each phenotype is shown in parentheses.
10 (12.0%)
Patent ductus arteriosus: 10 (12.0%)
Patient Count: 10 (12.0%)
% of total patients presenting each phenotype is shown in parentheses.
10 (12.0%)