Term Name: | Kleefstra syndrome 2 |
---|---|
Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0080598] ( DOID:0080598 ) |