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 )

Relationships
is a type of: autosomal dominant disease syndrome