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Summary
SCHNECKENBECKEN DYSPLASIA (CDG)
SLC35D1-CDG CHONDRODYSPLASIA, LETHAL NEONATAL, WITH SNAIL-LIKE PELVIS
269250
OMIM = Online Medalian Inheritance of Men
3144
1p31.3
rare
autosomal recessive
mutation in the SLC35D1 gene
symptoms
cleft palate
dwarfism
onset, fetus
onset, neonatal
polyhydramnion (maternal)
skeletal changes, skeletal abnormalities
laboratory finding
Literature
Arnold GL,et al.Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screeningMol Genet Metab16041439-4412012
Wortmann SB,et al.The 3-methylglutaconic acidurias: whats new?J Inher Metab Dis35113-222012
Sovik O,et al.Wolcott-Rallison syndrome with 3-hydroxydicarboxylic aciduria and lethal outcomeJ Inher Metab Dis Suppl312S293-2972008