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congenital disorder of glycosylation 1D (CDG-1D); carbohydrate-deficient glycoprotein syndrome type 4 (CDGS4)

Also see congenital disorder of glycosylation Pathology: 1) metabolic deficiency in glycoprotein biosynthesis 2) under-glycosylated serum glycoproteins Genetics: - associated with mutation in ALG3 gene Clinical manifestations: 1) severe mental retardation 2) psychomotor retardation

Related

protein glycosylation

General

congenital disorder of glycosylation

Database Correlations

OMIM 601110

References

  1. OMIM :accession 601110
  2. UniProt :accession Q92685