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cleft palate, cardiac defects, and intellectual disabillity (DOID:0111697)
Alliance: disease page
Synonyms: cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies; cleft palate, cardiac defects, and mental retardation; CPCMR
Alt IDs: OMIM:600987, MESH:C563414, UMLS_CUI:C1832950
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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory