Coffin-Siris syndrome 11
MONDO:0032912Mondo
Findings
No curated finding names Coffin-Siris syndrome 11 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
22 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.
- Delayed speech and language developmentHPOHP:0000750
- 4 of 4 reported patients
- Feeding difficulties in infancyHPOHP:0008872
- 5 of 5 reported patients
- Global developmental delayHPOHP:0001263
- 5 of 5 reported patients
- Intellectual disabilityHPOHP:0001249
- 4 of 4 reported patients
- Delayed ability to walkHPOHP:0031936
- 4 of 5 reported patients
- HypotoniaHPOHP:0001252
- 3 of 5 reported patients
- Small handHPOHP:0200055
- 3 of 5 reported patients
- High palateHPOHP:0000218
- 2 of 5 reported patients
- Low posterior hairlineHPOHP:0002162
- 2 of 5 reported patients
- Uplifted earlobeHPOHP:0009909
- 2 of 5 reported patients
- Agenesis of corpus callosumHPOHP:0001274
- 1 of 5 reported patients
- Bifid uvulaHPOHP:0000193
- 1 of 5 reported patients
Show the remaining 10
- Bulbous noseHPOHP:0000414
- 1 of 5 reported patients
- Cleft soft palateHPOHP:0000185
- 1 of 5 reported patients
- Depressed nasal bridgeHPOHP:0005280
- 1 of 5 reported patients
- Downturned corners of mouthHPOHP:0002714
- 1 of 5 reported patients
- Esophageal atresiaHPOHP:0002032
- 1 of 5 reported patients · Congenital onset
- Frontal bossingHPOHP:0002007
- 1 of 5 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.
- SMARCD1HGNC:11106
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Moderate · Ambry Genetics · Autosomal dominant · 2019
- Moderate · G2P · Autosomal dominant · 2025
Where it sits
- A kind of