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KMT2C

lysine methyltransferase 2C

HCNC Approved Symbol
KMT2C (HGNC:13726)
Genomic Coordinates
7:152,134,925 - 152,436,003 (7q36.1)
Synonyms
KIAA1506, HALR, MLL3
Disease Associations
This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

10Patients

In total, 10 patients were diagnosed with a variant in the KMT2C gene.

Frequently observed phenotypes

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

Delayed speech and language development
 2 (20.0%)
Intellectual disability
 2 (20.0%)
Short stature
 2 (20.0%)
Bulbous nose
 
1 (10.0%)
Bushy eyebrows
 
1 (10.0%)
KMT2C - Gene browser | 3billion