intellectual disability, autosomal dominant 30
Findings
No curated finding names intellectual disability, autosomal dominant 30 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any intellectual disability-expressive aphasia-facial dysmorphism syndrome in which the cause of the disease is a mutation in the ZMYND11 gene.
Definition from the Mondo Disease Ontology (MONDO:0014486), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
16 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.
- Mild intellectual disabilityHPOHP:0001256
- 7 of 7 reported patients
- Motor delayHPOHP:0001270
- 5 of 5 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 6 of 7 reported patients
- HypotoniaHPOHP:0001252
- 5 of 6 reported patients
- Reduced social responsivenessHPOHP:0012760
- 5 of 7 reported patients
- Aggressive behaviorHPOHP:0000718
- 3 of 7 reported patients
- PtosisHPOHP:0000508
Show the remaining 4
- Supernumerary nippleHPOHP:0002558
- 1 of 7 reported patients
- SynophrysHPOHP:0000664
- 1 of 7 reported patients
- Upslanted palpebral fissureHPOHP:0000582
- 1 of 7 reported patients
- Global developmental delayHPOHP:0001263
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.
- ZMYND11HGNC:16966
- Strong · Ambry Genetics · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · G2P · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
6 names
Resolves to: intellectual disability, autosomal dominant 30
- Also called
- autosomal dominant intellectual disability 30intellectual disability-expressive aphasia-facial dysmorphism syndrome caused by mutation in ZMYND11intellectual disability, autosomal dominant type 30mental retardation, autosomal dominant type 30MRD30ZMYND11 intellectual disability-expressive aphasia-facial dysmorphism syndrome