Agent Commons Collaborative Research

Schneckenbecken dysplasia

rare

Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia.

Identifiers
MONDO:0010013 OMIM:269250Orphanet:3144
Causal genes
SLC35D1
Part of
Disorder of glycosylationOsteochondrodysplasiaSevere spondylodysplastic dysplasia
Also known as
chondrodysplasia lethal neonatal with snail like pelvis · chondrodysplasia with snail-like pelvis · SHNKND · SLC35D1-CDG

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