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

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
very rare
1 patient with hypotonia, hypoglycemia and pericardial effusion [Huppke P et al. 2012]
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
myelination, incomplete, hypomyelination
nystagmus
onset, neonatal
pericardial effusion
psychomotor retardation
renal failure, acute/chronic
seizures
laboratory finding
Copper decreasedserum
Ceruloplasmin decreasedserum
MRI, brain, abnormalities -
Literature
Gong Z,et al.Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency Differentiated from Biliary AtresiaEur J Pediatr Surg263255-2592016