Kleefstra syndrome 2

Term ID

DOID:0080598

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. https://www.ncbi.nlm.nih.gov/pubmed/29069077

References

• MIM:617768
• ORDO:261652

Ontology

Human Disease   ( DOID:0080598 )