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CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG-IIi

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG-IIi
CDG2I; COG5-CDG
613612
OMIM = Online Mendelian Inheritance of Men
263487
Conserved oligomeric Golgi complex subunit 5
7q22.3
E77.8
rare
autosomal recesive
mutation in the COG5 gene
Laboratory findings    IEF of serum transferrin, type 2 pattern (serum)
    Sialotransferrins (isoelectrofocussing) inc (serum)
Symptoms    blindness, visual loss, visual impairment
    cerebellar atrophy or hypoplasia
    cerebral atrophy
    dwarfism
    epilepsy
    hearing defect, deafness
    hepatomegaly (large liver)
    hypotonia
    mental retardation
    microcephaly (<2 SD for age)
    onset, childhood
    onset, infancy
    psychomotor retardation
    seizures
    skoliosis, kyphoskoliosis
    strabismus