neurofibromatosis-Noonan syndrome
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. [ http://purl.obolibrary.org/obo/ECO_0007645 https://www.ncbi.nlm.nih.gov/pubmed/12707950 ]
Term info
neurofibromatosis-Noonan syndrome
- NFNS
- Noonan neurofibromatosis syndrome
- neurofibromatosis type 1-Noonan syndrome
- neurofibromatosis with Noonan phenotype
disease_ontology
DOID:0111683