Pan-Chung-Bellen syndrome
MONDO:0975953Mondo
Findings
No curated finding names Pan-Chung-Bellen syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
76 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.
- Abnormal social developmentHPOHP:0025732
- 1 of 1 reported patient
- AnxietyHPOHP:0000739
- 1 of 1 reported patient
- AspleniaHPOHP:0001746
- 1 of 1 reported patient
- Attention deficit hyperactivity disorderHPOHP:0007018
- 2 of 2 reported patients
- Borderline personality disorderHPOHP:0012076
- 1 of 1 reported patient
- ChordeeHPOHP:0000041
- 1 of 1 reported patient
- CryptorchidismHPOHP:0000028
- 3 of 3 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 11 of 11 reported patients
- DepressionHPOHP:0000716
- 1 of 1 reported patient
- Downslanted palpebral fissuresHPOHP:0000494
- 3 of 3 reported patients
- Global developmental delayHPOHP:0001263
- 13 of 13 reported patients
- Hearing impairmentHPOHP:0000365
- 1 of 1 reported patient
Show the remaining 64
- Horseshoe kidneyHPOHP:0000085
- 1 of 1 reported patient
- Hydrocele testisHPOHP:0000034
- 1 of 1 reported patient
- HypospadiasHPOHP:0000047
- 2 of 2 reported patients
- Intellectual disabilityHPOHP:0001249
- 13 of 13 reported patients
- LymphomaHPOHP:0002665
- 1 of 1 reported patient
- Pectus carinatumHPOHP:0000768
- 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.
- FRYLHGNC:29127
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · G2P · Autosomal dominant · 2025
Where it sits
- A kind of