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ENSchneckenbecken Dysplasia (SHNKND)
Alias:
Chondrodysplasia, Lethal Neonatal, with Snail-Like Pelvis
Chondrodysplasia with Snail-Like Pelvis
Slc35d1-Cdg
Shnknd
Dysplasia, Schneckenbecken
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Schneckenbecken Dysplasia, also known as chondrodysplasia, lethal neonatal, with snail-like pelvis, is related to osteochondrodysplasia and spondylometaphyseal dysplasia, sedaghatian type. An important gene associated with Schneckenbecken Dysplasia is SLC35D1 (Solute Carrier Family 35 Member D1), and among its related pathways/superpathways are Infectious disease and Transport of inorganic cations/anions and amino acids/oligopeptides. Affiliated tissues include bone, and related phenotypes are macrocephaly and short neck
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