Term Name: | Noonan syndrome 2 |
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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 ) |