| 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/31130285/, https://pubmed.ncbi.nlm.nih.gov/31130282/ |
| Xrefs | |
| Synonyms |
NS12 [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a Noonan syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |