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Noonan syndrome 12
Summary
- Synonym
-
- 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.
- Super Class
- Noonan syndrome autosomal dominant disease
External Links
- Disease Ontology
- DOID:0112170
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P62070 | Ras-related protein R-Ras2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000368 | Low-set, posteriorly rotated ears |
| HP:0000391 | Thickened helices |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000465 | Webbed neck |
| HP:0000474 | Thickened nuchal skin fold |
| HP:0000476 | Cystic hygroma |
| HP:0000486 | Strabismus |
| HP:0000494 | Downslanted palpebral fissures |
| HP:0000508 | Ptosis |
| HP:0000520 | Proptosis |
