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Pantothenate kinase-associated neurodegeneration
A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PANK2 gene on chromosome 20p13.
Pronunciation
/ˌpantəʊˈθɛneɪt ˈkʌɪneɪz - əˈsəʊʃɪeɪtɪd ˌnjʊərəʊdɪˌʤɛnəˈreɪʃən/
/ˌpæntoʊˈθɛneɪt ˈkaɪneɪs - əˈsoʊsiˌeɪdɪd ˌnjʊroʊdəˌʤɛnəˈreɪʃən/
Categories
autosomal recessive disease
neurodegeneration with brain iron accumulation
genetic disease
neuroacanthocytosis
rare disease