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 ...