intellectual disability, autosomal dominant 29
Findings
No curated finding names intellectual disability, autosomal dominant 29 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any autosomal dominant complex neurodevelopmental disorder caused by haploinsufficiency and/or loss-of-function variants in the SETBP1 gene and characterized by intellectual disability, autism, speech difficulty, motor and developmental delays, seizures, hypotonia, behavior challenges, and facial dysmorphisms.
Definition from the Mondo Disease Ontology (MONDO:0014482), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
56 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
- 33 of 34 reported patients
- Motor delayHPOHP:0001270
- 33 of 34 reported patients
- Intellectual disabilityHPOHP:0001249
- 23 of 30 reported patients
- PtosisHPOHP:0000508
- 3 of 4 reported patients
- HypotoniaHPOHP:0001252
- 14 of 27 reported patients
- High palateHPOHP:0000218
- 3 of 6 reported patients
- Low-set earsHPOHP:0000369
Show the remaining 44
- SynophrysHPOHP:0000664
- 2 of 6 reported patients
- HypermetropiaHPOHP:0000540
- 9 of 29 reported patients
- Global developmental delayHPOHP:0001263
- 1 of 4 reported patients
- AnxietyHPOHP:0000739
- 8 of 34 reported patients
- Frequent temper tantrumsHPOHP:0025161
- 8 of 34 reported patients
- CryptorchidismHPOHP:0000028
- 3 of 13 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.
- SETBP1HGNC:15573
- Definitive · G2P · Autosomal dominant · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
9 names
Resolves to: intellectual disability, autosomal dominant 29
- Also called
- autosomal dominant intellectual disability 29autosomal dominant mental retardation 29intellectual disability-expressive aphasia-facial dysmorphism syndrome caused by mutation in SETBP1intellectual disability, autosomal dominant type 29mental retardation, autosomal dominant type 29MRD29SETBP1 Haploinsufficiency DisorderSETBP1 intellectual disability-expressive aphasia-facial dysmorphism syndromeSETBP1-related complex neurodevelopmental disorder