Term Name: orofaciodigital syndrome IV
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.
Ontology: Human Disease [DOID:0060374]   ( DOID:0060374 )

Relationships
is a type of: autosomal recessive disease orofaciodigital syndrome