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GTR Home > Conditions/Phenotypes > Brain abnormalities, neurodegeneration, and dysosteosclerosis

Brain abnormalities, neurodegeneration, and dysosteosclerosis

Summary

Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS) is an autosomal recessive disorder characterized by brain abnormalities, progressive neurologic deterioration, and sclerotic bone dysplasia similar to dysosteosclerosis (DOS). The age at onset is highly variable: some patients may present in infancy with hydrocephalus, global developmental delay, and hypotonia, whereas others may have onset of symptoms in the late teens or early twenties after normal development. Neurologic features include loss of previous motor and language skills, cognitive impairment, spasticity, and focal seizures. Brain imaging shows periventricular white matter abnormalities and calcifications, large cisterna magna or Dandy-Walker malformation, and sometimes agenesis of the corpus callosum (summary by Guo et al., 2019). [from OMIM]

Available tests

8 tests are in the database for this condition.

Clinical tests (8 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BANDDOS, C-FMS, CD115, CSF-1R, CSFR, FIM2, FMS, GPSC, HDLS, HDLS1, M-CSF-R, CSF1R
    Summary: colony stimulating factor 1 receptor

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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