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Summary
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12 (CDG)
ST3GAL3-CDG
611090
OMIM = Online Medalian Inheritance of Men
88616
1q34.1
very rare
autosomal recessive
mutation in the ST3GAL3 gene
symptoms
mental retardation
laboratory finding
Literature
Helander A,et al.Asymptomatic phosphomannose isomerase deficiency (MPI-CDG) initially mistaken for excessive alcohol consumptionClin Chim Acta431015-182014
Soares-Fernandes JPet al.Brain Diffusion-Weighted and Diffusion Tensor Imaging Findings in an Infant with Biotinidase DeficiencyAJNR Am J Neuroradiol002009
Rathi NRathi MBiotinidase deficiency with hypertonia as unusual featureIndian Pediatr46165-672009