Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Findings
No curated finding names Rubinstein-Taybi syndrome due to EP300 haploinsufficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the EP300 gene.
Definition from the Mondo Disease Ontology (MONDO:0013364), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset · Infantile onset
HPO, annotations 2026-09-02
Features
140 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.
- Highly arched eyebrowHPOHP:0002553
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- 7 of 7 reported patients
- Occasional (5% to 29% of cases)
- Low hanging columellaHPOHP:0009765
- 13 of 13 reported patients
- Frequent (30% to 79% of cases)
- MicrocephalyHPOHP:0000252
- 12 of 12 reported patients
- Short 5th toeHPOHP:0011917
- 3 of 3 reported patients
- Short first metatarsalHPOHP:0010105
- 3 of 3 reported patients
Show the remaining 128
- Facial grimacingHPOHP:0000273
- Very frequent (80% to 99% of cases)
- High palateHPOHP:0000218
- 6 of 8 reported patients
- Very frequent (80% to 99% of cases)
- HypertelorismHPOHP:0000316
- Very frequent (80% to 99% of cases)
- Low-set earsHPOHP:0000369
- 2 of 9 reported patients
- Very frequent (80% to 99% of cases)
- MicrognathiaHPOHP:0000347
- 2 of 9 reported patients
- Very frequent (80% to 99% of cases)
- Neurodevelopmental delayHPOHP:0012758
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.
- EP300HGNC:3373
- Definitive · ClinGen · Autosomal dominant · 2022
- Definitive · G2P · Autosomal dominant · 2023
- Strong · Ambry Genetics · Autosomal dominant · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
3 names
Resolves to: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
- Also called
- EP300 Rubinstein-Taybi syndromeRubinstein-Taybi syndrome caused by mutation in EP300Rubinstein-Taybi syndrome type 2