Noonan syndrome 2

Term ID

DOID:0060580

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. https://www.ncbi.nlm.nih.gov/pubmed/5782826

References

• ICD10CM:Q87.1
• MESH:C548081
• MIM:605275

Ontology

Human Disease   ( DOID:0060580 )