|Dataset||CTD Gene-Disease Associations|
|Category||disease or phenotype associations|
|Description||Kleefstra syndrome (KS) is a genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features. (Orphanet Rare Disease Ontology, Orphanet_261494)|
|Downloads & Tools|
1 genes/proteins associated with the disease Kleefstra Syndrome from the curated CTD Gene-Disease Associations dataset.
|EHMT1||euchromatic histone-lysine N-methyltransferase 1||2.88009|