neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
Findings
No curated finding names neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIN1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013655), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset · Infantile onset
HPO, annotations 2026-09-02
Features
25 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.
- Inability to walkHPOHP:0002540
- 4 of 4 reported patients
- Intellectual disabilityHPOHP:0001249
- 2 of 2 reported patients
- Severe intellectual disabilityHPOHP:0010864
- 4 of 4 reported patients
- ChoreaHPOHP:0002072
- 3 of 4 reported patients
- Deeply set eyeHPOHP:0000490
- 3 of 4 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 3 of 4 reported patients
- Long faceHPOHP:0000276
Show the remaining 13
- MicrocephalyHPOHP:0000252
- 2 of 4 reported patients
- MyoclonusHPOHP:0001336
- 2 of 4 reported patients
- Oculogyric crisisHPOHP:0010553
- 2 of 4 reported patients
- Stereotypical hand wringingHPOHP:0012171
- 2 of 4 reported patients
- Focal impaired awareness seizureHPOHP:0002384
- 2 of 6 reported patients
- Absent speechHPOHP:0001344
- 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.
- GRIN1HGNC:4584
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2023
Where it sits
Other names
10 names
Resolves to: neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
- Also called
- autosomal dominant intellectual disability 8autosomal dominant non-syndromic intellectual disability caused by mutation in GRIN1GRIN1 autosomal dominant non-syndromic intellectual disabilityintellectual disability, autosomal dominant 8intellectual disability, autosomal dominant type 8mental retardation, autosomal dominant 8mental retardation, autosomal dominant 8, formerlymental retardation, autosomal dominant type 8MRD8NDHMSD