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Beta-propeller protein-associated neurodegeneration

ORPHA329284
Synonym(s) BPAN
NBIA5
Neurodegeneration with brain iron accumulation type 5
SENDA
Static encephalopathy of childhood with neurdegeneration in adulthood
Prevalence <1 / 1 000 000
Inheritance -
Age of onset Childhood
ICD-10
  • G23.0
OMIM
UMLS -
MeSH -
MedDRA -

Summary

Disease definition

Beta-propeller protein-associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood, is a rare form of neurodegeneration with brain iron accumulation (NBIA) characterized by early-onset developmental delay and further neurological deterioration in early adulthood.

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Detailed information

Clinical genetics review
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