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Metadata
ID DOID:0111697
Name cleft palate, cardiac defects, and intellectual disabillity
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.
https://www.ncbi.nlm.nih.gov/pubmed/24678003, https://www.ncbi.nlm.nih.gov/pubmed/8825606
Xrefs

MESH:C563414

OMIM:600987

UMLS_CUI:C1832950

Synonyms

cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies [EXACT]

cleft palate, cardiac defects, and mental retardation [EXACT]

CPCMR [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal dominant disease

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