Kabuki make-up syndrome Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency. (Orphanet Rare Disease Ontology, Orphanet_2322)
External Link http://www.omim.org/entry/147920
Similar Terms
Downloads & Tools

Genes

1 genes associated with the Kabuki make-up syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
KMT2D lysine (K)-specific methyltransferase 2D