Term Name: Noonan syndrome 12
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 )

Relationships
is a type of: autosomal dominant disease Noonan syndrome