" /> Vertebral, cardiac, renal, and limb defects syndrome 2 - CISMeF





Preferred Label : Vertebral, cardiac, renal, and limb defects syndrome 2;

Symbol : VCRL2;

CISMeF acronym : VCRL2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Congenital nad deficiency disorder 2; Kynureninase deficiency, complete;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the kynureninase gene (KYNU, 605197.0003);

Laboratory abnormalities : Increased serum levels of 3-hydroxykynurenine (3HK); Decreased serum levels of nicotinamide adenine dinucleotide (NAD) and NAD(H);

Prefixed ID : #617661;

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27/07/2025


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