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KDM5C

lysine demethylase 5C

HCNC Approved Symbol
KDM5C (HGNC:11114)
Genomic Coordinates
23:53,176,277 - 53,225,207 (Xp11.22)
Synonyms
DXS1272E, XE169, SMCX, JARID1C, MRX13
Disease Associations
This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

15Patients

In total, 15 patients were diagnosed with a variant in the KDM5C gene.

Frequently observed phenotypes

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

Intellectual disability
 6 (40.0%)
Global developmental delay
 3 (20.0%)
Delayed speech and language development
 
2 (13.3%)
Developmental regression
 
2 (13.3%)
Learning difficulties
 
2 (13.3%)
KDM5C - Gene browser | 3billion