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ENTetraamelia Syndrome
Alias:
Tetraamelia-Multiple Malformations Syndrome
Tetra-Amelia Syndrome
Tetra-Amelia
Zimmer Phocomelia
Total Amelia
Tetams
Tetra-Amelia, Autosomal Recessive
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Tetraamelia Syndrome, also known as tetraamelia-multiple malformations syndrome, is related to ulna and fibula, absence of, with severe limb deficiency and chromosome 2q35 duplication syndrome. An important gene associated with Tetraamelia Syndrome is WNT3 (Wnt Family Member 3), and among its related pathways/superpathways are Signal Transduction and GPCR downstream signalling. Affiliated tissues include heart and eye, and related phenotypes are hydrocephalus and microtia
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