| Metadata | |
|---|---|
| ID | DOID:0080598 |
| Name | Kleefstra syndrome 2 |
| Definition | A Kleefstra syndrome that is characterized by delayed psychomotor development, variable intellectual disability, and mild dysmorphic features and has_material_basis_in heterozygous mutation in the KMT2C gene on chromosome 7q36. https://www.ncbi.nlm.nih.gov/pubmed/29069077 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Parent Relationships |
is_a Kleefstra syndrome |