Rabin-Pappas syndrome
MONDO:0859331Mondo
Findings
No curated finding names Rabin-Pappas 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
40 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.
- Cerebellar hypoplasiaHPOHP:0001321
- 12 of 12 reported patients
- Failure to thrive in infancyHPOHP:0001531
- 12 of 12 reported patients
- Feeding difficultiesHPOHP:0011968
- 12 of 12 reported patients
- Global developmental delayHPOHP:0001263
- 12 of 12 reported patients
- HypertelorismHPOHP:0000316
- 12 of 12 reported patients
- HypotoniaHPOHP:0001252
- 12 of 12 reported patients
- Intellectual disabilityHPOHP:0001249
- 12 of 12 reported patients
- MicrocephalyHPOHP:0000252
- 12 of 12 reported patients
- MicrognathiaHPOHP:0000347
- 12 of 12 reported patients
- Highly arched eyebrowHPOHP:0002553
- 11 of 12 reported patients
- Conductive hearing impairmentHPOHP:0000405
- 7 of 8 reported patients
- Retinal telangiectasiaHPOHP:0007763
- 8 of 10 reported patients
Show the remaining 28
- Broad nasal tipHPOHP:0000455
- 9 of 12 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 9 of 12 reported patients
- HypoventilationHPOHP:0002791
- 9 of 12 reported patients
- Low hanging columellaHPOHP:0009765
- 9 of 12 reported patients
- Sensorineural hearing impairmentHPOHP:0000407
- 6 of 8 reported patients
- Wide nasal bridgeHPOHP:0000431
- 9 of 12 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.
- SETD2HGNC:18420
- Strong · Ambry Genetics · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Moderate · G2P · Autosomal dominant · 2025
Where it sits
- A kind of