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GTR Home > Conditions/Phenotypes > Neurodegeneration with brain iron accumulation 5

Neurodegeneration with brain iron accumulation 5

Synonyms
Beta-propeller protein-associated neurodegeneration; STATIC ENCEPHALOPATHY OF CHILDHOOD WITH NEURODEGENERATION IN ADULTHOOD

Summary

Beta-propeller protein-associated neurodegeneration (BPAN) is typically characterized by early-onset seizures, infantile-onset developmental delay, intellectual disability, absent-to-limited expressive language, motor dysfunction (ataxia), and abnormal behaviors often similar to autism spectrum disorder. Seizure types including generalized (absence, tonic, atonic, tonic-clonic and myoclonic), focal with impaired consciousness, and epileptic spasms, as well as epileptic syndromes (West syndrome and Lennox-Gastaut syndrome) can be seen. With age seizures tend to resolve or become less prominent, whereas cognitive decline and movement disorders (progressive parkinsonism and dystonia) emerge as characteristic findings. [from GeneReviews]

Available tests

60 tests are in the database for this condition.

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Clinical tests (58 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: JM5, NBIA4, NBIA5, WDRX1, WIPI-4, WIPI4, WDR45
    Summary: WD repeat domain 45

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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