intellectual developmental disorder, autosomal dominant 67
MONDO:0030964Mondo
Findings
No curated finding names intellectual developmental disorder, autosomal dominant 67 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
23 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.
- Delayed speech and language developmentHPOHP:0000750
- 3 of 3 reported patients
- Intellectual disabilityHPOHP:0001249
- 8 of 8 reported patients
- Motor delayHPOHP:0001270
- 2 of 3 reported patients
- Autistic behaviorHPOHP:0000729
- 5 of 8 reported patients
- Delayed gross motor developmentHPOHP:0002194
- 2 of 4 reported patients
- Sleep disturbanceHPOHP:0002360
- 2 of 4 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 3 of 7 reported patients
- Compulsive behaviorsHPOHP:0000722
- 1 of 3 reported patients
- Motor ticsHPOHP:0100034
- 1 of 3 reported patients
- Absent speechHPOHP:0001344
- 1 of 4 reported patients
- AstigmatismHPOHP:0000483
- 1 of 4 reported patients
- Bipolar affective disorderHPOHP:0007302
- 1 of 4 reported patients
Show the remaining 11
- Delayed fine motor developmentHPOHP:0010862
- 1 of 4 reported patients
- DysarthriaHPOHP:0001260
- 1 of 4 reported patients
- Gastroesophageal refluxHPOHP:0002020
- 1 of 4 reported patients
- Global developmental delayHPOHP:0001263
- 1 of 4 reported patients
- HyperactivityHPOHP:0000752
- 1 of 4 reported patients
- HypothyroidismHPOHP:0000821
- 1 of 4 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.
- GRIA1HGNC:4571
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Moderate · Ambry Genetics · Autosomal dominant · 2025
- Moderate · G2P · Autosomal dominant · 2022
Where it sits
Other names
2 names
Resolves to: intellectual developmental disorder, autosomal dominant 67
- Also called
- mental retardation, autosomal dominant 67MRD67