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CHD4

chromodomain helicase DNA binding protein 4

HCNC Approved Symbol
CHD4 (HGNC:1919)
Genomic Coordinates
12:6,570,082 - 6,607,379 (12p13.31)
Synonyms
Mi-2b, Mi2-BETA
Disease Associations
This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

7Patients

In total, 7 patients were diagnosed with a variant in the CHD4 gene.

Frequently observed phenotypes

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

Hypertelorism
 3 (42.9%)
Low set ears
 3 (42.9%)
Ocular hypertelorism
 2 (28.6%)
Patent ductus arteriosus
 2 (28.6%)
Facial dysmorphism
 2 (28.6%)
CHD4 - Gene browser | 3billion