intellectual disability, autosomal dominant 50
MONDO:0030916Mondo
Findings
No curated finding names intellectual disability, autosomal dominant 50 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
9 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.
- Intellectual disabilityHPOHP:0001249
- 23 of 23 reported patients
- Motor delayHPOHP:0001270
- 31 of 32 reported patients
- Autistic behaviorHPOHP:0000729
- 24 of 27 reported patients
- Feeding difficultiesHPOHP:0011968
- 8 of 14 reported patients
- SeizureHPOHP:0001250
- 6 of 26 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 2 of 11 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 1 of 28 reported patients
- Motor stereotypyHPOHP:0000733
- 1 of 32 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.
- NAA15HGNC:30782
- Definitive · Ambry Genetics · Autosomal dominant · 2018
- Strong · Illumina · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · G2P · Autosomal dominant · 2017
Where it sits
Other names
2 names
Resolves to: intellectual disability, autosomal dominant 50
- Also called
- intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalitiesintellectual developmental disorder, autosomal dominant 50, with behavioural abnormalities