OBO ID: DOID:0060226
Term Name: acrofrontofacionasal dysostosis Search Ontology:
Synonyms:
  • AFFN dysostosis
  • Richieri-Costa-Colletto syndrome
Definition: A dysostosis characterized by intellectual disability, short stature, hypertelorism, broad notched nasal tip, cleft lip palate, postaxial camptobrachypolysyndactyly, fibular hypoplasia and anomalies of foot structure. (2)
References:
Ontology: Human Disease   (DOID:0060226)
Relationships
is a type of:
OTHER acrofrontofacionasal dysostosis PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (1)