Term Name: | C syndrome |
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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 ) |