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
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None