cleft palate, cardiac defects, and intellectual disabillity

Term ID

DOID:0111697

Synonyms

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

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. (2)

References

• MESH:C563414
• OMIM:600987
• UMLS_CUI:C1832950

Ontology

Human Disease   ( DOID:0111697 )