Watson syndrome

Introduction

atypical form of neurofibromatois-1

Genetics

• associated with mutation in gene for neurofibromin

Clinical manifestations

• short stature
• macrocephaly
• lisch nodules
• pulmonic stenosis
• cafe-au-lait spots
• neurofibromas

More general terms

• neurofibromatosis (classic) type 1

Additional terms

• neurofibromatosis type 1 [NF1] protein or neurofibromin

Database

• OMIM: https://mirror.omim.org/entry/162200
• OMIM: https://mirror.omim.org/entry/193520