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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:0001743 | Abnormality of the spleen |
| HP:0001892 | Abnormal bleeding |
| HP:0001928 | Abnormality of coagulation |
| HP:0002162 | Low posterior hairline |
| HP:0002167 | Abnormality of speech or vocalization |
| HP:0002208 | Coarse hair |
| HP:0002240 | Hepatomegaly |
| HP:0002650 | Scoliosis |
| HP:0002750 | Delayed skeletal maturation |
| HP:0002974 | Radioulnar synostosis |
