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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
onset, childhood
onset, infancy
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