neuronal intranuclear inclusion disease
Findings
No curated finding names neuronal intranuclear inclusion disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Neuronal intranuclear inclusion disease (NIID) is a very rare multisystem neurodegenerative disorder characterized by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells, and neuronal loss.
Definition from the Mondo Disease Ontology (MONDO:0011327), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
37 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.
- Decreased motor nerve conduction velocityHPOHP:0003431
- 40 of 43 reported patients
- LeukoencephalopathyHPOHP:0002352
- 47 of 51 reported patients
- VentriculomegalyHPOHP:0002119
- 47 of 51 reported patients
- Abnormal speech patternHPOHP:0002167
- Very frequent (80% to 99% of cases)
- Abnormality of movementHPOHP:0100022
- Very frequent (80% to 99% of cases)
- AtaxiaHPOHP:0001251
- 20 of 56 reported patients
- Very frequent (80% to 99% of cases)
Show the remaining 25
- Atypical behaviorHPOHP:0000708
- 12 of 56 reported patients
- Frequent (30% to 79% of cases)
- EEG abnormalityHPOHP:0002353
- Frequent (30% to 79% of cases)
- HyperreflexiaHPOHP:0001347
- Frequent (30% to 79% of cases)
- HypertoniaHPOHP:0001276
- Frequent (30% to 79% of cases)
- NystagmusHPOHP:0000639
- Frequent (30% to 79% of cases)
- OphthalmoplegiaHPOHP:0000602
- Frequent (30% to 79% of cases)
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.
- NOTCH2NLAHGNC:31862
- Limited · PanelApp Australia · Autosomal dominant · 2025