Term Name: C syndrome
Synonyms: Opitz C trigonocephaly, Opitz trigonocephaly C syndrome, Opitz trigonocephaly syndrome, OTCS, trigonocephaly C syndrome
Definition: A syndrome characterized by trigonocephaly, psychomotor retardation, hypotonia, variable cardiac defects, redundant skin, and dysmorphic facial features that has_material_basis_in heterozygous mutation in the CD96 gene on chromosome 3q13.1-q13.2.
Ontology: Human Disease [DOID:0111581]   ( DOID:0111581 )

Relationships
is a type of: autosomal dominant disease syndrome