neurofibromatosis, familial spinal
MONDO:0008078Mondo
Findings
No curated finding names neurofibromatosis, familial spinal 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
- Middle age onset · Young adult onset
HPO, annotations 2026-09-02
Features
7 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.
- Spinal neurofibromaHPOHP:0009735
- 8 of 8 reported patients
- Cafe-au-lait spotHPOHP:0000957
- 5 of 8 reported patients
- Lisch nodulesHPOHP:0009737
- 2 of 5 reported patients
- ParaparesisHPOHP:0002385
- 2 of 5 reported patients
- NeurofibromaHPOHP:0001067
- 1 of 5 reported patients
- Plexiform neurofibromaHPOHP:0009732
- 1 of 5 reported patients
- FrecklingHPOHP:0001480
- 0 of 3 reported patients
Where it sits
- A kind of