neurofibromatosis-Noonan syndrome


neurofibromatosis-Noonan syndrome

An atypical form of neurofibromatosis type I (OMIM:601321) with manifestations of Noonan syndrome, characterised by dysmorphic facial features, short stature, hypertelorism, cardiac anomalies, deafness, motor delay and bleeding diathesis.
Molecular pathology
Neurofibromatosis-Noonan syndrome is caused by defects in NF1.