acrofacial dysostosis Cincinnati type
Findings
No curated finding names acrofacial dysostosis Cincinnati type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any acrofacial dysostosis in which the cause of the disease is a mutation in the POLR1A gene.
Definition from the Mondo Disease Ontology (MONDO:0014651), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset · Infantile onset · Neonatal onset · Childhood onset
HPO, annotations 2026-09-02
Features
99 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.
- Anomalous origin of right coronary artery from the pulmonary arteryHPOHP:0011639
- 1 of 1 reported patient
- Anteverted naresHPOHP:0000463
- 1 of 1 reported patient
- Aortic aneurysmHPOHP:0004942
- 1 of 1 reported patient
- Aqueductal stenosisHPOHP:0002410
- 1 of 1 reported patient
- AspirationHPOHP:0002835
- 1 of 1 reported patient
- Atonic seizureHPOHP:0010819
- 1 of 1 reported patient
- Bicuspid aortic valveHPOHP:0001647
Show the remaining 87
- Cavum septum pellucidumHPOHP:0002389
- 1 of 1 reported patient
- Cleft anterior mitral valve leafletHPOHP:0011569
- 1 of 1 reported patient
- Clinodactyly of the 5th fingerHPOHP:0004209
- 1 of 1 reported patient
- CryptorchidismHPOHP:0000028
- 1 of 1 reported patient
- Dandy-Walker malformationHPOHP:0001305
- 1 of 1 reported patient
- Deeply set eyeHPOHP:0000490
- 2 of 2 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.
- POLR1AHGNC:17264
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · G2P · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2016
Where it sits
- A kind of
Other names
2 names
Resolves to: acrofacial dysostosis Cincinnati type
- Also called
- acrofacial dysostosis caused by mutation in POLR1APOLR1A acrofacial dysostosis