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CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIo

CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIo
CDG2O; CCDC115-CDG
616828
OMIM = Online Mendelian Inheritance of Men
468684
Coiled-coil domain-containing protein 115
2q21.2
E88.8
rare
autosomal recessive
mutation in the CCDC115 gene
Laboratory findings    Ceruloplasmin dec (serum)
    Cholesterol inc (serum)
    Creatine kinase inc (serum)
    IEF of serum transferrin, type 2 pattern (serum)
    Phosphatase, alkaline inc (serum)
    Transaminases (ASAT/ALAT) inc (serum)
Symptoms    cirrhosis or fibrosis of liver
    dysmorphism
    hepatomegaly (large liver)
    hypotonia
    jaundice
    liver failure
    muscle atrophy
    onset, infancy
    psychomotor retardation
    ptosis (drooping eyelid)
    seizures
    splenomegaly (large spleen)