tetraamelia syndrome 2 (DOID:0112193)
Alliance: disease page
Synonyms: TETAMS2; tetra-amelia with pulmonary hypoplasia; tetraamelia with pulmonary hypoplasia
Alt IDs: OMIM:618021
Definition: A tetraamelia syndrome characterized by rudimentary or absent appendages, bilateral agenesis of the lungs, pulmonary vascular abnormalities, and dysmorphic features that has_material_basis_in homozygous or compound heterozygous mutation in RSPO2 on chromosome 8q23.1.