Term Name: | Saldino-Noonan syndrome |
---|---|
Synonyms: | type I short rib polydactyly syndrome |
Definition: | A syndrome characterized by congenital heart defects, failure to thrive, short stature, cognitive dysfunction, pectus excavatum, coagulation defects and craniofacial defects and that has_material_basis_in the mutation in the Ras/mitogen activated protein kinase. |
Ontology: | Human Disease [DOID:0050549] ( DOID:0050549 ) |