| Term Name: | Noonan syndrome 2 |
|---|---|
| Synonyms: | NS2 |
| Definition: | A Noonan syndrome characterized by hypertrophic obstructive cardiomyopathy and that has_material_basis_in homozygous or compound heterozygous mutation in the LZTR1 gene on chromosome 22q11. |
| Ontology: | Human Disease [DOID:0060580] ( DOID:0060580 ) |