cleft palate, cardiac defects, and intellectual disabillity

Summary

DOID:0111697 - cleft palate, cardiac defects, and intellectual disabillity

Disease Ontology Definition:A syndrome characterized by a combination of congenital heart defects, variable cleft lip/palate, short stature, microcephaly, and digital anomalies that has_material_basis_in heterozygous mutation in the MEIS2 gene on chromosome 15q14.

Synonyms: CPCMR, cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies, cleft palate, cardiac defects, and mental retardation,

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

: meis2

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

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

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