Term Name: | cleft palate, cardiac defects, and intellectual disabillity |
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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. |
Ontology: | Human Disease [DOID:0111697] ( DOID:0111697 ) |