OBO ID: DOID:0111697
Term Name: cleft palate, cardiac defects, and intellectual disabillity Search Ontology:
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:
Ontology: Human Disease   ( DOID:0111697 )
OTHER cleft palate, cardiac defects, and intellectual disabillity PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MEIS2 Cleft palate, cardiac defects, and impaired intellectual development 600987
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None