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Noonan syndrome 6
Summary
- Synonym
-
- NS6
- Definition
- A Noonan syndrome that has_material_basis_in heterozygous mutation in the NRAS gene on chromosome 1p13.
- Super Class
- Noonan syndrome autosomal dominant disease
External Links
- Disease Ontology
- DOID:0060584
- Mondo Disease Ontology
- MeSH
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000750 | Delayed speech and language development |
| HP:0000969 | Edema |
| HP:0000256 | Macrocephaly |
| HP:0001195 | Single umbilical artery |
| HP:0001510 | Growth delay |
| HP:0005280 | Depressed nasal bridge |
| HP:0001290 | Generalized hypotonia |
| HP:0008070 | Sparse hair |
| HP:0001270 | Motor delay |
| HP:0002212 | Curly hair |
