intellectual disability, autosomal dominant 14
Findings
No curated finding names intellectual disability, autosomal dominant 14 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 ARID1A gene.
Definition from the Mondo Disease Ontology (MONDO:0013819), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
46 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 pinna morphologyHPOHP:0000377
- 1 of 1 reported patient
- Absent fifth fingernailHPOHP:0200104
- 3 of 3 reported patients
- Absent fifth toenailHPOHP:0200105
- 3 of 3 reported patients
- Anteverted naresHPOHP:0000463
- 1 of 1 reported patient
- Coarse facial featuresHPOHP:0000280
- 4 of 4 reported patients
- CryptorchidismHPOHP:0000028
- 1 of 1 reported patient
- Delayed eruption of teethHPOHP:0000684
Show the remaining 34
- Intellectual disabilityHPOHP:0001249
- 1 of 1 reported patient
- Long eyelashesHPOHP:0000527
- 4 of 4 reported patients
- Low anterior hairlineHPOHP:0000294
- 1 of 1 reported patient
- Poor suckHPOHP:0002033
- 3 of 3 reported patients
- PtosisHPOHP:0000508
- 1 of 1 reported patient
- Sandal gapHPOHP:0001852
- 1 of 1 reported patient
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.
- ARID1AHGNC:11110
- Definitive · G2P · Autosomal dominant · 2023
- Strong · Illumina · Autosomal dominant · 2019
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
8 names
Resolves to: intellectual disability, autosomal dominant 14
- Also called
- ARID1A Coffin-Siris syndromeARID1A-related BAFopathyautosomal dominant intellectual disability 14Coffin-Siris syndrome caused by mutation in ARID1ACSS2intellectual disability, autosomal dominant type 14mental retardation, autosomal dominant type 14MRD14