| Metadata | |
|---|---|
| ID | DOID:0111697 |
| Name | cleft palate, cardiac defects, and intellectual disability |
| 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/8825606, https://www.ncbi.nlm.nih.gov/pubmed/24678003 |
| Xrefs | |
| 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 autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |