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DO Term : Kleefstra syndrome 2 [DOID:0080598] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • OMIM:617768,
  • ORDO:261652,
  • 617768
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents