Features include very common findings: Decreased motor nerve conduction velocity, Enlarged brain ventricles (ventriculomegaly), and Leukoencephalopathy; and common findings: Urinary incontinence, Ataxia, Difficulty with thinking and memory (cognitive impairment), and Loss of consciousness and others. 24 total HPO annotations.

NOTCH2NLC encodes notch 2 N-terminal like C (293 aa). Human-specific protein that promotes neural progenitor proliferation and evolutionary expansion of the brain neocortex by regulating the Notch signaling pathway.

Neuronal intranuclear inclusion disease is associated with mutations in the NOTCH2NLC gene on chromosome 1.

The NOTCH2NLC protein participates in Transcription of NOTCH2NLC gene, NOTCH2NLB, (NOTCH2NLA, NOTCH2NLC) bind DLL1, (DLL4, JAG1, JAG2), and Transcription of NOTCH2NLR gene pathways.

NOTCH2NLC is classified as a druggable target with score 0.0.

Genetic testing for NOTCH2NLC is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for neuronal intranuclear inclusion disease has been reported in the published literature.

Phenotype severity distribution: 3 very common features, 9 common features.

Estimated prevalence: Unknown (Unknown prevalence).

No clinical trials have been registered for neuronal intranuclear inclusion disease.

123 publications have been identified in PubMed for neuronal intranuclear inclusion disease. Research spans Case Report / Case Series (46%), Diagnostic / Biomarker (14%), and Basic Science / Preclinical (14%).