Bartsocas-Papas syndrome 2
MONDO:0859154Mondo
Findings
No curated finding names Bartsocas-Papas syndrome 2 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
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.
- 2-5 finger cutaneous syndactylyHPOHP:0005650
- 1 of 1 reported patient
- Accessory oral frenulumHPOHP:0000191
- 1 of 1 reported patient
- AnkyloblepharonHPOHP:0009755
- 1 of 1 reported patient
- Antecubital pterygiumHPOHP:0009760
- 1 of 1 reported patient
- Aplasia of distal finger phalanxHPOHP:0009881
- 1 of 1 reported patient
- Axillary pterygiumHPOHP:0001060
- 1 of 1 reported patient
- Bilateral cleft lipHPOHP:0100336
- 1 of 1 reported patient
- Bilateral cleft palateHPOHP:0100337
- 1 of 1 reported patient
- Corneal opacityHPOHP:0007957
- 1 of 1 reported patient
- Low-set earsHPOHP:0000369
- 1 of 1 reported patient
- MicrognathiaHPOHP:0000347
- 1 of 1 reported patient
- MicrophthalmiaHPOHP:0000568
- 1 of 1 reported patient
Show the remaining 5
- Overfolded helixHPOHP:0000396
- 1 of 1 reported patient
- Popliteal pterygiumHPOHP:0009756
- 1 of 1 reported patient
- Prominent occiputHPOHP:0000269
- 1 of 1 reported patient
- Small handHPOHP:0200055
- 1 of 1 reported patient
- Wide anterior fontanelHPOHP:0000260
- 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.
- CHUKHGNC:1974
- Moderate · Ambry Genetics · Autosomal recessive · 2024
- Moderate · ClinGen · Autosomal recessive · 2024
Where it sits
- A kind of