Coffin-Siris syndrome 10
MONDO:0032791Mondo
Findings
No curated finding names Coffin-Siris syndrome 10 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
25 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.
- Clinodactyly of the 5th fingerHPOHP:0004209
- 4 of 4 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 4 of 4 reported patients
- Exaggerated cupid's bowHPOHP:0002263
- 4 of 4 reported patients
- Global developmental delayHPOHP:0001263
- 4 of 4 reported patients
- Intellectual disabilityHPOHP:0001249
- 4 of 4 reported patients
- Wide mouthHPOHP:0000154
- 4 of 4 reported patients
- Anteverted naresHPOHP:0000463
- 3 of 4 reported patients
- Delayed ability to walkHPOHP:0031936
- 3 of 4 reported patients
- Infra-orbital creaseHPOHP:0100876
- 3 of 4 reported patients
- EpicanthusHPOHP:0000286
- 2 of 4 reported patients
- Feeding difficultiesHPOHP:0011968
- 2 of 4 reported patients
- MicrocephalyHPOHP:0000252
- 2 of 4 reported patients
Show the remaining 13
- Posteriorly rotated earsHPOHP:0000358
- 2 of 4 reported patients
- Thick vermilion borderHPOHP:0012471
- 2 of 4 reported patients
- Axial hypotoniaHPOHP:0008936
- 1 of 4 reported patients
- Cerebellar atrophyHPOHP:0001272
- 1 of 4 reported patients
- Delayed eruption of permanent teethHPOHP:0000696
- 1 of 4 reported patients
- Generalized hypotoniaHPOHP:0001290
- 1 of 4 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.
- SOX4HGNC:11200
- Strong · Ambry Genetics · Autosomal dominant · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · G2P · Autosomal dominant · 2019
- Moderate · Illumina · Autosomal dominant · 2021
Where it sits
- A kind of