Metadata | |
---|---|
ID | DOID:0112192 |
Name | tetraamelia 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/ |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
TETAMS1 [EXACT] tetra-amelia syndrome 1 [EXACT] |
Parent Relationships |
is_a tetraamelia syndrome |