Treacher Collins syndrome 2
Findings
No curated finding names Treacher Collins syndrome 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the POLR1D gene.
Definition from the Mondo Disease Ontology (MONDO:0013385), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance · Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
17 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- MicrognathiaHPOHP:0000347
- 11 of 13 reported patients
- MicrotiaHPOHP:0008551
- 7 of 9 reported patients
- Downslanted palpebral fissuresHPOHP:0000494
- 9 of 12 reported patients
- Malar flatteningHPOHP:0000272
- 3 of 4 reported patients
- Conductive hearing impairmentHPOHP:0000405
- 8 of 12 reported patients
- Hypoplasia of the zygomatic boneHPOHP:0010669
- 5 of 8 reported patients
- MicroretrognathiaHPOHP:0000308
Show the remaining 5
- Preauricular pitHPOHP:0004467
- 1 of 4 reported patients
- RetrognathiaHPOHP:0000278
- 1 of 4 reported patients
- Choanal atresiaHPOHP:0000453
- 1 of 5 reported patients
- Choanal stenosisHPOHP:0000452
- 1 of 5 reported patients
- Motor delayHPOHP:0001270
- 1 of 7 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- HGNC:20422HGNC:20422
- Definitive · ClinGen · Autosomal dominant · 2022
- Definitive · G2P · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: Treacher Collins syndrome 2
- Also called
- POLR1D Treacher-Collins syndromeTreacher Collins syndrome type 2Treacher-Collins syndrome caused by mutation in POLR1D