intellectual developmental disorder, autosomal dominant 69
MONDO:0029465Mondo
Findings
No curated finding names intellectual developmental disorder, autosomal dominant 69 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
7 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.
- Bilateral tonic-clonic seizureHPOHP:0002069
- 4 of 4 reported patients · Childhood onset
- Intention tremorHPOHP:0002080
- 4 of 4 reported patients · Infantile onset
- Intellectual disabilityHPOHP:0001249
- 3 of 4 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 2 of 4 reported patients
- Absent speechHPOHP:0001344
- 1 of 4 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 1 of 4 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.
- LMAN2LHGNC:19263
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
Where it sits
Other names
2 names
Resolves to: intellectual developmental disorder, autosomal dominant 69
- Also called
- mental retardation, autosomal dominant 69MRD69