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Summary
CONGENITAL DISORDER OF GLYCOSYLATION CDG-Iu
CDG1U DPM2-CDG
615042
OMIM = Online Medalian Inheritance of Men
329178
9q34.11
rare
autosomal recessive
symptoms
cerebellar atrophy or hypoplasia
contractures, joints
early death
feeding difficulties, poor feeding
hypotonia
microcephaly (<2 SD for age)
optic atrophy
psychomotor retardation
respiratory distress
seizures
strabismus
laboratory finding
Literature
Crutchfield SRet al.Succinic semialdehyde dehydrogenase deficiency: phenotype evolution in an adolescent patient at 20-year follow-upDev Med Child Neurol5011880-8812008