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GENATLAS PHENOTYPE
last update : 11-09-2009
Symbol CDG1D
Location 3q27.1
Name congenital disorder of glycosylation, type 1D
Other name(s) carbohydrate-deficient glycoprotein syndrome, type IV
Corresponding gene ALG3
Other symbol(s) CDGS4, CDGID
Main clinical features
  • microcephaly, severe epilepsy, minimal psychomotor development and partial deficiency of sialic acids in serum glycoproteins, hypotonia, seizures, optic atrophy and reduced amplitude at ERG, reduced antithrombin, brain atrophy on MRI
  • tetraspastic paresis, severe psychomotor handicap, and multiple dysmorphisms including microcephaly, dysplastic ears, atrophy of the optic nerve, and coloboma of the iris; epilepsy was reasonably well controlled by valproic acid
    • Genetic determination autosomal recessive
    Function/system disorder metabolism/carbohydrates
    Type disease
    Gene product
    Name asparagine-linked glycosylation 3 homolog
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function  
    other   absent protein segmental maternal isodisomy UPD3(q21.3-qter)
    Remark(s)