OBO ID: DOID:0060565
Term Name: Ritscher-Schinzel syndrome Search Ontology:
Synonyms:
  • CCC dysplasia
  • craniocerebellocardiac dysplasia
Definition: A syndrome characterized by craniofacial (prominent occiputal and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies. https://en.wikipedia.org/wiki/3C_syndrome
References:
Ontology: Human Disease   (DOID:0060565)
OTHER Ritscher-Schinzel syndrome PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None