Coffin-Siris syndrome 8
MONDO:0032702Mondo
Findings
No curated finding names Coffin-Siris syndrome 8 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 SMARCC2 gene.
Definition from the Mondo Disease Ontology (MONDO:0032702), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
27 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.
- Global developmental delayHPOHP:0001263
- 15 of 15 reported patients
- Intellectual disabilityHPOHP:0001249
- 5 of 5 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 13 of 15 reported patients
- HypotoniaHPOHP:0001252
- 13 of 15 reported patients
- Aggressive behaviorHPOHP:0000718
- 10 of 15 reported patients
- HyperactivityHPOHP:0000752
- 10 of 15 reported patients
- Self-injurious behaviorHPO
Show the remaining 15
- Failure to thriveHPOHP:0001508
- 6 of 15 reported patients
- HypertrichosisHPOHP:0000998
- 6 of 15 reported patients
- Thick eyebrowHPOHP:0000574
- 6 of 15 reported patients
- Thin upper lip vermilionHPOHP:0000219
- 6 of 15 reported patients
- Long eyelashesHPOHP:0000527
- 5 of 15 reported patients
- PtosisHPOHP:0000508
- 5 of 15 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.
- SMARCC2HGNC:11105
- Definitive · Ambry Genetics · Autosomal dominant · 2024
- Definitive · Illumina · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · G2P · Autosomal dominant · 2019
Where it sits
- A kind of
Other names
1 name
Resolves to: Coffin-Siris syndrome 8
- Also called
- SMARCC2-related BAFopathy