U.S. flag

An official website of the United States government

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

61 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (59 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

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.