Term Name: | Noonan syndrome 12 |
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Synonyms: | NS12 |
Definition: | A Noonan syndrome characterized by macrocephaly, facial anomalies including hypertelorism, downslanting palpebral fissures, and low-set ears, and other Noonan syndrome features that has_material_basis_in heterozygous mutation in the RRAS2 gene on chromosome 11p15.2. |
Ontology: | Human Disease [DOID:0112170] ( DOID:0112170 ) |