Treacher Collins syndrome 4

Term ID

DOID:0080792

Synonyms

Definition

A Treacher Collins syndrome that is characterized by craniofacial dysmorphisms including downslanting palpebral fissures, malar and mandibular hypoplasia, and microtia and that has_material_basis_in heterozygous mutation in the POLR1B gene on chromosome 2q14. https://pubmed.ncbi.nlm.nih.gov/31649276/

References

• OMIM:618939

Ontology

Human Disease   ( DOID:0080792 )