DISEASES

Disease-gene associations mined from literature

Human genes for neurofibromatosis-Noonan syndrome

neurofibromatosis-Noonan syndrome [DOID:0111683]

A syndrome characterized by neurofibromatosis and manifestations of Noonan syndrome, including short stature, ptosis, midface hypoplasia, webbed neck, learning disabilities, and muscle weakness, that has_material_basis_in heterozygous mutation in NF1 on chromosome 17q11.2.

Synonyms:  neurofibromatosis-Noonan syndrome,  DOID:0111683,  neurofibromatosisNoonan syndrome,  neurofibromatosis-Noonan disease,  neurofibromatosis-Noonan disorder ...