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Summary
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IqCDG-Iq
CDG1Q
612379
OMIM = Online Medalian Inheritance of Men
324737
4q12
symptoms
ataxia
cataract
chorioretinal colobomata
dysmorphism
failure to thrive
hypotonia
ichthyosis
impaired visual acuity
mental retardation
nystagmus
optic atrophy
laboratory finding
Sialotransferrins (isoelectrofocussing)0.000.00 increasedserumall
Literature
Nordmann Yet al.Human hereditary hepatic porphyriasClin Chim Acta325017-372002
Badminton MNElder GHManagement of acute and cutaneous porphyriasInt J Clin Pract564272-2782002
Sarkany RPThe management of porphyria cutanea tardaClin Exp Dermatol263225-2322001