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C syndrome (Opitz trigonocephaly syndrome)

Genetics: - chromosomal translocation t(3;18)(q13.13;q12.1) involving CD96 Clinical manifestations: - trigonocephaly & associated anomalies - unusual facies, wide alveolar ridges, multiple buccal frenula, limb defects, visceral anomalies, redundant skin, psychomotor retardation & hypotonia

Related

C-like syndrome (Opitz trigonocephaly-like syndrome)

General

trigonocephaly genetic syndrome (multisystem disorder)

Database Correlations

OMIM 211750

References

  1. UniProt :accession P40200
  2. OMIM :accession 211750