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Summary
PYRROLINE-5-CARBOXYLATE REDUCTASE DEFICIENCY
612940
OMIM = Online Medalian Inheritance of Men
357064
17q25.3
rare
autosomal recessive
symptoms
cutis laxa
failure to thrive
growth retardation
joint hypermobilty, dislocations
microcephaly
skin hyperelasticity
visible veins
laboratory finding
no metabolic abnormalities
Literature