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Neurofibromatosis-Noonan syndrome

ORPHA638
Synonym(s) NFNS
Neurofibromatosis type 1-Noonan syndrome
Prevalence Unknown
Inheritance Autosomal dominant
Age of onset Infancy
Neonatal
ICD-10 -
OMIM
UMLS
  • C0553586
  • C2931482
MeSH
  • C537393
  • D009456
MedDRA -

Summary

Neurofibromatosis-Noonan syndrome is a complex disorder of neurofibromatosis type 1 (NF1) with clinical signs characteristic for Noonan's syndrome, such as small stature, ptosis, hypoplastic middle part of the face, pterygium colli, learning disability and hypotonia. The genetic anomaly causing the syndrome has not yet been clearly established. It is believed to be the NF1 gene.


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