Term Name: Loeys-Dietz syndrome 4
Synonyms: Aneurysm, aortic and cerebral, with arterial tortuosity and skeletal manifestations, LDS4
Definition: A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB2 gene on chromosome 1q41.
Ontology: Human Disease [DOID:0070233]   ( DOID:0070233 )

Relationships
is a type of: Loeys-Dietz syndrome