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Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
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ORPHA:363700
Classification level: Subtype of disorder
Synonym(s):
- Von Recklinghausen disease due to NF1 mutation or intragenic deletion
Prevalence: -
Inheritance: Autosomal dominant
Age of onset: Infancy, Neonatal
Summary
This disease is described under Neurofibromatosis type 1
Detailed information
: produced/endorsed by ERN(s)
: produced/endorsed by FSMR(s)
Guidelines
Emergency guidelines
Clinical practice guidelines
Disease review articles
Clinical genetics review
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
- Research project(s) (90)
- Clinical trial(s) (9)
- Biobank(s) (19)
- Registry(ies) (75)
- Network of experts (23)
Newborn screening
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