tetraamelia syndrome 1

Term ID

DOID:0112192

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. https://pubmed.ncbi.nlm.nih.gov/14872406/

References

• GARD:5148
• OMIM:273395

Ontology

Human Disease   ( DOID:0112192 )