Kleefstra syndrome 1

Summary

DOID:0060352 - Kleefstra syndrome 1

Disease Ontology Definition:A Kleefstra syndrome that is characterized by severe mental retardation, hypotonia, microcephaly, epileptic seizures, flat face with hypertelorism, synophrys, anteverted nares, everted lower lip, carp mouth with macroglossia, and heart defects and that has_material_basis_in a microdeletion in the chromosome region 9q34.3 or by a point mutation in the EHMT1 gene located in that region.

Synonyms: 9q34 deletion syndrome, 9q subtelomeric deletion syndrome, 9q-syndrome

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

: ehmt1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0012455 - Kleefstra syndrome

MONDO:0012455 - Kleefstra syndrome

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), chromosomal deletion syndrome (is_a), Kleefstra syndrome (is_a), syndrome (is_a)