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CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB; ARCL2B

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB; ARCL2B
PYRROLINE-5-CARBOXYLATE REDUCTASE DEFICIENCY
612940
OMIM = Online Mendelian Inheritance of Men
357064
Pyrroline-5-carboxylate reductase 1, mitochondrial
1.5.1.2
17q25.3
Q82.8
rare
autosomal recessive
mutation in the PYCR1 gene
Laboratory findings    no metabolic abnormalities ()
Symptoms    cutis laxa
    failure to thrive
    growth retardation, poor growth
    joint hypermobilty, dislocations, laxity
    microcephaly (<2 SD for age)
    onset, infancy
    onset, neonatal
    skin hyperelasticity
    visible veins