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KDM6A

lysine demethylase 6A

HCNC Approved Symbol
KDM6A (HGNC:12637)
Genomic Coordinates
23:44,873,188 - 45,112,779 (Xp11.3)
Synonyms
UTX
Disease Associations
This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

14Patients

In total, 14 patients were diagnosed with a variant in the KDM6A gene.

Frequently observed phenotypes

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

Failure to thrive
 4 (28.6%)
Epicanthic folds
 3 (21.4%)
Global developmental delay
 3 (21.4%)
Long palpebral fissure
 3 (21.4%)
Microcephaly
 
2 (14.3%)
KDM6A - Gene browser | 3billion