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UROCANASE DEFICIENCY (UROCD)

UROCANASE DEFICIENCY (UROCD)
276880
OMIM = Online Mendelian Inheritance of Men
210128
Urocanate hydratase
4.2.1.49
3q21.3
E70.8
rare
autosomal recessive
mutation in the UROC1 gene
Laboratory findings    Urocanic Acid inc (urine)
    Urocanoylglycine inc (urine)
Symptoms    ataxia
    intellectual disability/intellectual developmental disorder
    mental retardation
    no clinical symptoms (probably)
    nystagmus
    onset, infancy
    onset, neonatal
    short stature
    tremor or twitching