basal cell nevus syndrome 1
MONDO:0958174Mondo
Findings
No curated finding names basal cell nevus syndrome 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
35 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.
- Abnormal sternum morphologyHPOHP:0000766
- Basal cell carcinomaHPOHP:0002671
- Young adult onset
- Bifid ribsHPOHP:0000892
- Bridged sella turcicaHPOHP:0005449
- Calcification of falx cerebriHPOHP:0005462
- Young adult onset
- Cardiac fibromaHPOHP:0010617
- Cardiac rhabdomyomaHPOHP:0009729
- CataractHPOHP:0000518
- Cleft palateHPOHP:0000175
- Cleft upper lipHPOHP:0000204
- Coarse facial featuresHPOHP:0000280
- Down-sloping shoulderHPOHP:0200021
Show the remaining 23
- HemivertebraeHPOHP:0002937
- HydrocephalusHPOHP:0000238
- HypertelorismHPOHP:0000316
- Irregular ossification of hand bonesHPOHP:0004280
- MacrocephalyHPOHP:0000256
- Congenital onset
- Mandibular prognathiaHPOHP:0000303
- MedulloblastomaHPOHP:0002885
- Childhood onset
- MicrophthalmiaHPOHP:0000568
Genes
2 genes
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.
Where it sits
- A kind of