Term Name: | Noonan syndrome 13 |
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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 ) |