Term Name: Noonan syndrome 13
Synonyms: NS13
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.
Ontology: Human Disease [DOID:0112161]   ( DOID:0112161 )

Relationships
is a type of: autosomal dominant disease Noonan syndrome