neurocutaneous syndrome
MONDO:0042983Mondo
Findings
No curated finding names neurocutaneous syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs.
Definition from the Mondo Disease Ontology (MONDO:0042983), read 2026-09-29. CC BY 4.0.
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.
- SREBF2HGNC:11290
- Moderate · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of