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HDAC8

histone deacetylase 8

HCNC Approved Symbol
HDAC8 (HGNC:13315)
Genomic Coordinates
23:72,329,516 - 72,572,843 (Xq13.1)
Synonyms
RPD3, KDAC8, HDACL1, WTS, MRXS6
Disease Associations
This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

13Patients

In total, 13 patients were diagnosed with a variant in the HDAC8 gene.

Frequently observed phenotypes

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

Global developmental delay
 6 (46.2%)
Microcephaly
 6 (46.2%)
Delayed speech and language development
 4 (30.8%)
Intrauterine growth retardation
 4 (30.8%)
Atrial septal defect
 3 (23.1%)
HDAC8 - Gene browser | 3billion