Coffin-Siris syndrome 5
MONDO:0014838Mondo
Findings
No curated finding names Coffin-Siris syndrome 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCE1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014838), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
23 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.
- Absent speechHPOHP:0001344
- Atrial septal defectHPOHP:0001631
- Coarse facial featuresHPOHP:0000280
- Depressed nasal bridgeHPOHP:0005280
- Feeding difficultiesHPOHP:0011968
- Global developmental delayHPOHP:0001263
- Hypoplastic toenailsHPOHP:0001800
- Intellectual disabilityHPOHP:0001249
- Long eyelashesHPOHP:0000527
Show the remaining 11
- Sandal gapHPOHP:0001852
- Short distal phalanx of fingerHPOHP:0009882
- Short philtrumHPOHP:0000322
- Short statureHPOHP:0004322
- Sparse scalp hairHPOHP:0002209
- Thick eyebrowHPOHP:0000574
- Thick lower lip vermilionHPOHP:0000179
- Thick nasal alaeHPOHP:0009928
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.
- SMARCE1HGNC:11109
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · G2P · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
Where it sits
- A kind of
Other names
3 names
Resolves to: Coffin-Siris syndrome 5
- Also called
- Coffin-Siris syndrome caused by mutation in SMARCE1Coffin-Siris syndrome type 5SMARCE1 Coffin-Siris syndrome