Noonan syndrome 12

Term ID

DOID:0112170

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. (2)

References

• OMIM:618624

Ontology

Human Disease   ( DOID:0112170 )