Noonan syndrome 13 (DOID:0112161)
Alliance: disease page
Synonyms: NS13
Alt IDs: OMIM:619087
Definition: A Noonan syndrome characterized by developmental delay, variably impaired intellectual development, reduced postnatal growth, and craniofacial anomalies that has_material_basis_in heterozygous mutation in the MAPK1 gene on chromosome 22q11.22, where the mutation enhances phosphorylation of the kinase.