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Symbol
Name
ID
Kmt2d
lysine (K)-specific methyltransferase 2D
MGI:2682319
Phenotype annotations related to craniofacial
Darker colors indicate more annotations
Human Phenotypes
Micrognathia
Microcephaly
Mask-like facies
Preauricular pit
Preauricular skin tag
Lower lip pit
Lip pit
Cleft palate
High palate
Abnormality of the dentition
Hypodontia
Natal tooth
Abnormality of dental morphology
Microdontia
Dental malocclusion
Widely spaced teeth
Oral cleft
Broad nasal tip
Short columella
Depressed nasal tip
Wide nasal bridge
Sparse and thin eyebrow
Sparse lateral eyebrow
Highly arched eyebrow
Long eyelashes
Prominent eyelashes
Long palpebral fissure
Eversion of lateral third of lower eyelids
Epicanthus
Disease(s) Associated with KMT2D
Kabuki syndrome

Mouse Phenotypes
short maxilla
flattened snout
Availability Mouse Genotype
Kmt2dGt(RRT024)Byg/Kmt2d+

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
09/10/2019
MGI 6.14
The Jackson Laboratory