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tetraamelia syndrome 1
Summary
- Synonym
-
- TETAMS1
- tetra-amelia syndrome 1
- Definition
- A tetraamelia syndrome characterized by complete limb agenesis without defects of scapulae or clavicles that has_material_basis_in homozygous or compound heterozygous mutation in WNT3 on chromosome 17q21.31-q21.32.
- Super Class
- autosomal recessive disease tetraamelia syndrome
External Links
- Disease Ontology
- DOID:0112192
- Mondo Disease Ontology
- OMIM
- GARD
