Term Name:
Treacher Collins syndrome 3
Synonyms:
Definition:
A Treacher Collins syndrome that has_material_basis_in compound heterozygous mutation in the POLR1C gene on chromosome 6p21.
Ontology:
Human Disease [DOID:0080791] (
DOID:0080791
)
Relationships
is a type of:
autosomal recessive disease
Treacher Collins syndrome