C syndrome

Term ID

DOID:0111581

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. https://www.ncbi.nlm.nih.gov/pubmed/17847009

References

• GARD:5978
• MESH:C537418
• MIM:211750
• ORDO:1308
• SNOMEDCT_US_2023_03_01:715409005
• UMLS_CUI:C0796095

Ontology

Human Disease   ( DOID:0111581 )