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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02121 |
Koolen-De Vries syndrome Chromosome 17q21.31 deletion syndrome Microdeletion 17q21.31 syndrome |
... was initially described in association with microdeletions at the 17q21.31 locus; however, heterozygous mutations in KANSL1, a gene within the common deletion region, can produce the phenotype as well. | Chromosomal abnormality | KANSL1 [HSA:284058] [KO:K18400] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |