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Metadata
ID DOID:0112170
Name Noonan syndrome 12
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.
https://pubmed.ncbi.nlm.nih.gov/31130282/, https://pubmed.ncbi.nlm.nih.gov/31130285/
Xrefs

OMIM:618624

Synonyms

NS12 [EXACT]

Parent Relationships

is_a Noonan syndrome

is_a autosomal dominant disease

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