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Reference

Evidence

Compounds
Outcomes
Proteins
Interactions
Papers
Articles

Chemistry

Reactions
Reach

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Pathways
Processes
Anatomy
Cell types
Organisms
Materials
Assessments
Diseases

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Computational infrastructure for human biology, built on a provenance-aware knowledge graph. Findings retain their sources; research and simulation are the next layers.

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A reference for what the literature reports. Not medical advice.

Disease

HNRNPC-related neurodevelopmental disorder

MONDO:0800457Mondo

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Findings

No curated finding names HNRNPC-related neurodevelopmental disorder yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Any neurodevelopmental disorder in which the cause of the disease is a variation in the HNRNPC gene. It is characterized by global developmental delay, intellectual disability, behavioral abnormalities, and subtle facial dysmorphism. It is caused by heterozygous HNRNPC germline variants.

Definition from the Mondo Disease Ontology (MONDO:0800457), read 2026-09-29. CC BY 4.0.

Where it sits

A kind of: Mendelian neurodevelopmental disorder
Narrower terms (1): intellectual developmental disorder, autosomal dominant 74