intellectual developmental disorder, autosomal dominant 65
MONDO:0023657Mondo
Findings
No curated finding names intellectual developmental disorder, autosomal dominant 65 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
45 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
- 9 of 9 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 8 of 9 reported patients
- Global developmental delayHPOHP:0001263
- 8 of 9 reported patients
- Agenesis of corpus callosumHPOHP:0001274
- 2 of 3 reported patients
- Delayed gross motor developmentHPOHP:0002194
- 6 of 9 reported patients
- Dysgenesis of the hippocampusHPOHP:0025101
- 2 of 3 reported patients
- HypotoniaHPOHP:0001252
- 2 of 3 reported patients
- Delayed fine motor developmentHPOHP:0010862
- 4 of 9 reported patients
- Aggressive behaviorHPOHP:0000718
- 2 of 5 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 2 of 5 reported patients
- Clinodactyly of the 5th fingerHPOHP:0004209
- 3 of 9 reported patients
- Facial hypotoniaHPOHP:0000297
- 1 of 3 reported patients
Show the remaining 33
- SeizureHPOHP:0001250
- 3 of 9 reported patients
- Short philtrumHPOHP:0000322
- 3 of 9 reported patients
- Downturned corners of mouthHPOHP:0002714
- 2 of 9 reported patients
- MacrotiaHPOHP:0000400
- 2 of 9 reported patients
- Prominent metopic ridgeHPOHP:0005487
- 2 of 9 reported patients
- Sparse hairHPOHP:0008070
- 2 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.
- KDM4BHGNC:29136
- Strong · ClinGen · Autosomal dominant · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · G2P · Autosomal dominant · 2025
Where it sits
Other names
2 names
Resolves to: intellectual developmental disorder, autosomal dominant 65
- Also called
- mental retardation, autosomal dominant 65MRD65