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Human Disease

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
Ontology
Human Disease   ( DOID:0112170 )
Relationships
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Genes Involved
Zebrafish Models