Mosaic neurofibromatosis type 1
Synonyms: MNF1 | Mosaic NF1
A rare mosaic form of neurofibromatosis type 1 (NF1) characterized by findings typical of NF1 namely multiple café-au-lait macules (CALMs) cutaneous neurofibromas skinfold freckling/lentiginous macules iris Lisch nodules and tumors of the nervous system. Mosaic form is caused by postzygotic pathogenic variants in NF1-gene. In mosaic NF1 the allelic/tissue distribution of the pathogenic NF1-variant clearly suggests mosaicsm and/or the distribution of CALMs and cutaneous neurofibromas is segmental. The phenotype can be milder than in NF1.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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