Neurofibromatosis - Noonan syndrome
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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. *Author: Orphanet (octobre 2004)*.
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