auriculocondylar syndrome 2B
MONDO:0957544Mondo
Findings
No curated finding names auriculocondylar syndrome 2B yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
27 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.
- Autistic behaviorHPOHP:0000729
- 1 of 1 reported patient
- Central sleep apneaHPOHP:0010536
- 1 of 1 reported patient
- Chronic constipationHPOHP:0012450
- 1 of 1 reported patient
- Darwin tubercle of helixHPOHP:0011261
- 1 of 1 reported patient
- Failure to thriveHPOHP:0001508
- 1 of 1 reported patient
- Full cheeksHPOHP:0000293
- 3 of 3 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
- Long penisHPOHP:0000040
- 2 of 2 reported patients
- Mandibular condyle hypoplasiaHPOHP:0007628
- 1 of 1 reported patient
- MicrognathiaHPOHP:0000347
- 4 of 4 reported patients
- Narrow foreheadHPOHP:0000341
- 1 of 1 reported patient
Show the remaining 15
- Narrow mouthHPOHP:0000160
- 1 of 1 reported patient
- OpisthotonusHPOHP:0002179
- 1 of 1 reported patient
- Postauricular skin tagHPOHP:0004451
- 2 of 2 reported patients
- Postnatal growth retardationHPOHP:0008897
- 1 of 1 reported patient
- Question mark earHPOHP:0030022
- 5 of 5 reported patients
- Sparse hairHPOHP:0008070
- 1 of 1 reported patient
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
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of