auriculocondylar syndrome 2
MONDO:0013845Mondo
Findings
No curated finding names auriculocondylar syndrome 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any auriculocondylar syndrome in which the cause of the disease is a mutation in the PLCB4 gene.
Definition from the Mondo Disease Ontology (MONDO:0013845), read 2026-09-29. CC BY 4.0.
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
- 22 of 31 reported patients
- Narrow mouthHPOHP:0000160
- 14 of 27 reported patients
- GlossoptosisHPOHP:0000162
- 5 of 11 reported patients
- Respiratory distressHPOHP:0002098
- 8 of 22 reported patients
- Stenosis of the external auditory canalHPOHP:0000402
- 3 of 10 reported patients
- PtosisHPOHP:0000508
- 3 of 11 reported patients
- MacrocephalyHPOHP:0000256
- 3 of 12 reported patients
- Mild global developmental delayHPOHP:0011342
- 3 of 13 reported patients
- Feeding difficultiesHPOHP:0011968
- 4 of 19 reported patients
- Hearing impairmentHPOHP:0000365
- 4 of 19 reported patients
- HypotoniaHPOHP:0001252
- 2 of 11 reported patients
- MicroglossiaHPOHP:0000171
- 2 of 11 reported patients
Show the remaining 5
- Low-set earsHPOHP:0000369
- 2 of 20 reported patients
- Posteriorly rotated earsHPOHP:0000358
- 2 of 20 reported patients
- Temporomandibular joint ankylosisHPOHP:0012478
- 1 of 20 reported patients
- Overfolding of the superior helicesHPOHP:0004453
- Round faceHPOHP:0000311
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.
- PLCB4HGNC:9059
- Definitive · ClinGen · Autosomal recessive · 2025
- Definitive · ClinGen · Autosomal dominant · 2023
- Definitive · Illumina · Autosomal dominant · 2019
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · G2P · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Semidominant · 2020
Where it sits
- A kind of
Other names
3 names
Resolves to: auriculocondylar syndrome 2
- Also called
- auriculocondylar syndrome caused by mutation in PLCB4Auriculocondylar syndrome type 2PLCB4 auriculocondylar syndrome