Orphanet: Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion

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Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion

ORPHA:363700

Classification level: Subtype of disorder

Synonym(s):
- Von Recklinghausen disease due to NF1 mutation or intragenic deletion
Prevalence: -
Inheritance: -
Age of onset: -
ICD-10: Q85.0
OMIM: 162200
UMLS: -
MeSH: -
GARD: -
MedDRA: -

Summary

This disease is described under Neurofibromatosis type 1

Detailed information

Guidelines

Emergency guidelines
Français (2019, pdf) - Orphanet Urgences

Clinical practice guidelines
Français (2021) - PNDS

Disease review articles

Clinical genetics review
English (2022) - GeneReviews

: produced/endorsed by ERN(s)
FSMR

: produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

Eurordis directory

Newborn screening

Newborn screening library

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