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 )

Relationships
is a type of: autosomal dominant disease Kleefstra syndrome