Term Name: | tetraamelia syndrome 1 |
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Synonyms: | 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. |
Ontology: | Human Disease [DOID:0112192] ( DOID:0112192 ) |