intellectual developmental disorder, autosomal dominant 66
MONDO:0030891Mondo
Findings
No curated finding names intellectual developmental disorder, autosomal dominant 66 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
- Congenital onset · Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
20 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.
- Global developmental delayHPOHP:0001263
- 12 of 12 reported patients
- Intellectual disabilityHPOHP:0001249
- 12 of 12 reported patients
- Autistic behaviorHPOHP:0000729
- 5 of 10 reported patients
- SeizureHPOHP:0001250
- 4 of 12 reported patients
- ArachnodactylyHPOHP:0001166
- 2 of 12 reported patients
- HypotoniaHPOHP:0001252
- 2 of 12 reported patients
- ScoliosisHPOHP:0002650
- 2 of 12 reported patients
- Aortic root aneurysmHPOHP:0002616
- 1 of 12 reported patients
- BrachycephalyHPOHP:0000248
- 1 of 12 reported patients
- Cerebral cavernous malformationHPOHP:0033522
- 1 of 12 reported patients
- Clinodactyly of the 5th fingerHPOHP:0004209
- 1 of 12 reported patients
- Infantile spasmsHPOHP:0012469
- 1 of 12 reported patients
Show the remaining 8
- Low-set earsHPOHP:0000369
- 1 of 12 reported patients
- Pectus carinatumHPOHP:0000768
- 1 of 12 reported patients
- Pectus excavatumHPOHP:0000767
- 1 of 12 reported patients
- PlagiocephalyHPOHP:0001357
- 1 of 12 reported patients
- Secundum atrial septal defectHPOHP:0001684
- 1 of 12 reported patients
- Sparse hairHPOHP:0008070
- 1 of 12 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.
- ATP2B1HGNC:814
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2022
- Moderate · G2P · Autosomal dominant · 2022
- Limited · Ambry Genetics · Autosomal recessive · 2024
Where it sits
Other names
2 names
Resolves to: intellectual developmental disorder, autosomal dominant 66
- Also called
- mental retardation, autosomal dominant 66MRD66