KMT2D - Gene browser

KMT2D

lysine methyltransferase 2D

HCNC Approved Symbol: KMT2D (HGNC:7133)
Genomic Coordinates: 12:49,018,978 - 49,060,794 (12q13.12)
Synonyms: ALR, MLL4, CAGL114, TNRC21, MLL2
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

79Patients

In total, 79 patients were diagnosed with a variant in the KMT2D gene.

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

079
Patient count

Long palpebral fissure: 17 (21.5%)
Patient Count: 17 (21.5%)
% of total patients presenting each phenotype is shown in parentheses.
17 (21.5%)
Global developmental delay: 16 (20.3%)
Patient Count: 16 (20.3%)
% of total patients presenting each phenotype is shown in parentheses.
16 (20.3%)
Failure to thrive: 14 (17.7%)
Patient Count: 14 (17.7%)
% of total patients presenting each phenotype is shown in parentheses.
14 (17.7%)
Intellectual disability: 13 (16.5%)
Patient Count: 13 (16.5%)
% of total patients presenting each phenotype is shown in parentheses.
13 (16.5%)
Cleft palate: 13 (16.5%)
Patient Count: 13 (16.5%)
% of total patients presenting each phenotype is shown in parentheses.
13 (16.5%)