Kleefstra syndrome 2

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Summary

Literature (0)

DOID:0080598 - Kleefstra syndrome 2

Disease Ontology 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.

Synonyms:

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: kmt2c

MIM:

MIM:617768 - KLEEFSTRA SYNDROME 2; KLEFS2

MIM:617768 - KLEEFSTRA SYNDROME 2; KLEFS2

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), Kleefstra syndrome (is_a)