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tetraamelia syndrome 2
Summary
- Synonym
-
- TETAMS2
- tetra-amelia with pulmonary hypoplasia
- tetraamelia with pulmonary hypoplasia
- 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.
- Super Class
- autosomal recessive disease tetraamelia syndrome
External Links
- Disease Ontology
- DOID:0112193
- GARD
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q6UXX9 | R-spondin-2 |
