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Human Disease

acrofrontofacionasal dysostosis 1

Term ID
DOID:0060226
Synonyms
  • AFFN dysostosis
  • Richieri-Costa-Colletto syndrome
Definition
An acrofrontofacionasal dysostosis that is characterized by intellectual disability, short stature, hypertelorism, broad notched nasal tip, cleft lip palate, postaxial camptobrachypolysyndactyly, fibular hypoplasia and anomalies of foot structure. (3)
References
Ontology
Human Disease   ( DOID:0060226 )
Relationships
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Genes Involved
Zebrafish Models