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COPPER CHAPERONE FOR SUPEROXIDE DISMUTASE (CCS)

COPPER CHAPERONE FOR SUPEROXIDE DISMUTASE (CCS)
603864
OMIM = Online Mendelian Inheritance of Men
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11q13.2

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
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very rare
1 patient with hypotonia, hypoglycemia and pericardial effusion [Huppke P et al. 2012]
Laboratory findings    Ceruloplasmin dec (serum)
    Copper dec (serum)
Symptoms    cataract
    cerebellar atrophy or hypoplasia
    cerebral atrophy
    defect of walking, running, rising or climbing
    hearing defect, deafness
    hypoglycemia
    hypotonia
    liver failure
    liver involvement or dysfunction
    MRI, brain, abnormalities [-]
    myelination, incomplete, hypomyelination
    nystagmus
    onset, neonatal
    pericardial effusion
    psychomotor retardation
    renal failure, acute/chronic
    seizures