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DEAF1

DEAF1 transcription factor

HCNC Approved Symbol
DEAF1 (HGNC:14677)
Genomic Coordinates
11:644,220 - 707,083 (11p15.5)
Synonyms
NUDR, SPN, ZMYND5
Disease Associations
This gene is associated with the following 2 diseases in OMIM.

Diagnosed Cases

14Patients

In total, 14 patients were diagnosed with a variant in the DEAF1 gene.

Frequently observed phenotypes

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

Global developmental delay
 6 (42.9%)
Epilepsy
 3 (21.4%)
Autism
 3 (21.4%)
Developmental delay
 3 (21.4%)
Delayed speech and language development
 3 (21.4%)
DEAF1 - Gene browser | 3billion