OBO ID: DOID:0060374
Term Name: orofaciodigital syndrome IV Search Ontology:
Synonyms:
  • Baraitser-Burn syndrome
  • OFD4
Definition: An orofaciodigital syndrome that is characterized by dysmorphic facies, the development of harmartomas of the tongue, polydactyly and limb dysplasia, has_material_basis_in autosomal recessive inheritance of mutations in the TCTN3 gene. https://rarediseases.info.nih.gov/diseases/816/orofaciodigital-syndrome-4
References:
Ontology: Human Disease   (DOID:0060374)
OTHER orofaciodigital syndrome IV PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TCTN3 Orofaciodigital syndrome IV 258860
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None