" /> Neurodegeneration with brain iron accumulation 2b - CISMeF





Preferred Label : Neurodegeneration with brain iron accumulation 2b;

Symbol : NBIA2B;

CISMeF acronym : NBIA2B;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Neurodegeneration with brain iron accumulation, pla2g6-related; Neuroaxonal dystrophy, atypical;

Included titles and symbols : Karak syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the phospholipase A2, group VI gene (PLA2G6, 603604.0002);

Prefixed ID : #610217;

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27/07/2025


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