intellectual disability, autosomal dominant 15
Findings
No curated finding names intellectual disability, autosomal dominant 15 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 SMARCB1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013820), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
36 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.
- Abnormal corpus callosum morphologyHPOHP:0001273
- 2 of 2 reported patients
- Coarse facial featuresHPOHP:0000280
- 4 of 4 reported patients
- Delayed eruption of permanent teethHPOHP:0000696
- 3 of 3 reported patients
- Delayed skeletal maturationHPOHP:0002750
- 1 of 1 reported patient
- Feeding difficultiesHPOHP:0011968
- 4 of 4 reported patients
- Global developmental delayHPOHP:0001263
- 4 of 4 reported patients
- High palateHPO
Show the remaining 24
- Sparse scalp hairHPOHP:0002209
- 4 of 4 reported patients
- Thick eyebrowHPOHP:0000574
- 4 of 4 reported patients
- Thick vermilion borderHPOHP:0012471
- 4 of 4 reported patients
- Wide mouthHPOHP:0000154
- 4 of 4 reported patients
- Wide noseHPOHP:0000445
- 4 of 4 reported patients
- Depressed nasal bridgeHPOHP:0005280
- 3 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.
- SMARCB1HGNC:11103
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
Where it sits
Other names
9 names
Resolves to: intellectual disability, autosomal dominant 15
- Also called
- autosomal dominant intellectual disability 15COFFIN-SIRIS syndrome 3Coffin-Siris syndrome caused by mutation in SMARCB1CSS3intellectual disability, autosomal dominant type 15mental retardation, autosomal dominant type 15MRD15SMARCB1 Coffin-Siris syndromeSMARCB1-related BAFopathy