| Term Name: | craniofaciocardiohepatic syndrome |
|---|---|
| Synonyms: | CFCHS |
| Definition: | A syndrome characterized by orofacial clefting, congenital heart disease, tall stature with variable dysmorphic features, gastrointestinal involvement, and developmental delay that has_material_basis_in heterozygous mutation in the AMOTL1 gene on chromosome 11q21. |
| Ontology: | Human Disease [DOID:0070791] ( DOID:0070791 ) |