Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / OrganismsTools
SugarDrawer
GlycanBuilder
Glycan Converters
GlycoMaple
GlycomeAtlas
LM-GlycomeAtlas
GALAXY
MCAW
GlycoSim
GRable
Guidelines
MIRAGE
neurodevelopmental disorder with involuntary movements
Summary
- Synonym
-
- NEDIM
- Definition
- A movement disease characterized by delayed psychomotor development and infantile or childhood onset of hyperkinetic involuntary movements, including chorea and athetosis that has_material_basis_in heterozygous mutation of the GNAO1 gene on chromosome 16q13.
- Super Class
- autosomal dominant disease movement disease
External Links
- Disease Ontology
- DOID:0112276
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P18872 | Guanine nucleotide-binding protein G(o) subunit alpha |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001337 | Tremor |
| HP:0001500 | Broad finger |
| HP:0001508 | Failure to thrive |
| HP:0001537 | Umbilical hernia |
| HP:0001629 | Ventricular septal defect |
| HP:0002069 | Bilateral tonic-clonic seizure |
| HP:0002079 | Hypoplasia of the corpus callosum |
| HP:0002121 | Generalized non-motor (absence) seizure |
| HP:0002131 | Episodic ataxia |
| HP:0002353 | EEG abnormality |
