basal cell nevus syndrome 2
MONDO:0958189Mondo
Findings
No curated finding names basal cell nevus syndrome 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset · Adult onset · Young adult onset
HPO, annotations 2026-09-02
Features
15 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.
- Basal cell carcinomaHPOHP:0002671
- 2 of 2 reported patients
- MacrocephalyHPOHP:0000256
- 2 of 2 reported patients
- PapuleHPOHP:0200034
- 2 of 2 reported patients
- Plantar pitsHPOHP:0010612
- 2 of 2 reported patients
- Palmar pitsHPOHP:0010610
- 3 of 4 reported patients
- AngiofibromasHPOHP:0010615
- 1 of 2 reported patients
- Calcification of falx cerebriHPOHP:0005462
- 2 of 4 reported patients
- Frontal bossingHPOHP:0002007
- 1 of 2 reported patients
- HydrocephalusHPOHP:0000238
- 1 of 2 reported patients
- MedulloblastomaHPOHP:0002885
- 1 of 2 reported patients
- MeningiomaHPOHP:0002858
- 1 of 2 reported patients
- MigraineHPOHP:0002076
- 1 of 2 reported patients
Show the remaining 3
- NeurofibromaHPOHP:0001067
- 1 of 2 reported patients
- NevusHPOHP:0003764
- 1 of 2 reported patients
- VertigoHPOHP:0002321
- 1 of 2 reported patients
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.
- SUFUHGNC:16466
- Strong · G2P · Autosomal dominant · 2024
Where it sits
- A kind of