| Dataset | DisGeNET Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | disease |
| 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 | https://www.disgenet.org/browser/0/1/0/C3275495 |
| Similar Terms | |
| Downloads & Tools |
1 genes associated with the disease Kabuki Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
| Symbol | Name |
|---|---|
| KDM6A | lysine (K)-specific demethylase 6A |
