intellectual disability, autosomal dominant 39
Findings
No curated finding names intellectual disability, autosomal dominant 39 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the MYT1L gene.
Definition from the Mondo Disease Ontology (MONDO:0014678), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Childhood onset
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.
- Attention deficit hyperactivity disorderHPOHP:0007018
- 1 of 1 reported patient
- Delayed ability to walkHPOHP:0031936
- 1 of 1 reported patient
- Delayed gross motor developmentHPOHP:0002194
- 9 of 9 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 11 of 11 reported patients
- Global developmental delayHPOHP:0001263
- 11 of 11 reported patients
- Intellectual disabilityHPOHP:0001249
- 2 of 2 reported patients
- Neonatal hypotoniaHPO
Show the remaining 13
- ObesityHPOHP:0001513
- 7 of 12 reported patients
- Autistic behaviorHPOHP:0000729
- 3 of 9 reported patients
- Bilateral talipes equinovarusHPOHP:0001776
- 1 of 9 reported patients
- Cerebral atrophyHPOHP:0002059
- 1 of 9 reported patients
- Focal impaired awareness seizureHPOHP:0002384
- 1 of 9 reported patients
- Generalized non-motor (absence) seizureHPOHP:0002121
- 1 of 9 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.
- MYT1LHGNC:7623
- Definitive · G2P · Autosomal dominant · 2016
- Strong · Ambry Genetics · Autosomal dominant · 2020
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
7 names
Resolves to: intellectual disability, autosomal dominant 39
- Also called
- autosomal dominant intellectual disability 39autosomal dominant non-syndromic intellectual disability caused by mutation in MYT1Lintellectual developmental disorder, autosomal dominant 39intellectual disability, autosomal dominant type 39mental retardation, autosomal dominant type 39MRD39MYT1L autosomal dominant non-syndromic intellectual disability