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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
symptoms
cleft palate
dwarfism
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