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 )

Relationships
is a type of: autosomal recessive disease Noonan syndrome