Term Name: Treacher Collins syndrome 2
Synonyms:
Definition: A Treacher Collins syndrome that has_material_basis_in heterozygous mutation in the POLR1D gene on chromosome 13q12.
Ontology: Human Disease [DOID:0080790]   ( DOID:0080790 )

Relationships
is a type of: autosomal recessive disease Treacher Collins syndrome