neurodevelopmental disorder with involuntary movements
MONDO:0060491Mondo
Findings
No curated finding names neurodevelopmental disorder with involuntary movements 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 · Neonatal onset
HPO, annotations 2026-09-02
Features
17 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.
- Severe intellectual disabilityHPOHP:0010864
- 4 of 4 reported patients
- Absent speechHPOHP:0001344
- 3 of 4 reported patients
- Cerebral atrophyHPOHP:0002059
- 3 of 4 reported patients
- Focal impaired awareness seizureHPOHP:0002384
- 3 of 4 reported patients
- Poor head controlHPOHP:0002421
- 3 of 4 reported patients
- ChoreaHPOHP:0002072
- 2 of 4 reported patients
- Epileptic encephalopathyHPOHP:0200134
- 2 of 4 reported patients
- Global developmental delayHPOHP:0001263
- 2 of 4 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 2 of 4 reported patients
- Multifocal epileptiform dischargesHPOHP:0010841
- 2 of 4 reported patients
- AthetosisHPOHP:0002305
- 1 of 4 reported patients
- Atrophy/Degeneration affecting the brainstemHPOHP:0007366
- 1 of 4 reported patients
Show the remaining 5
- Bilateral tonic-clonic seizureHPOHP:0002069
- 1 of 4 reported patients
- Cerebellar atrophyHPOHP:0001272
- 1 of 4 reported patients
- Delayed CNS myelinationHPOHP:0002188
- 1 of 4 reported patients
- Infantile spasmsHPOHP:0012469
- 1 of 4 reported patients
- Involuntary movementsHPOHP:0004305
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.
- GNAO1HGNC:4389
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
2 names
Resolves to: neurodevelopmental disorder with involuntary movements
- Also called
- GNAO1-related developmental delay-seizures-movement disorder spectrumGNAO1-related spectrum