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Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder

Synonyms
NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Childhood-onset neurodegeneration with brain atrophy (CONDBA) is a severe progressive neurodegenerative disorder characterized by loss of motor and cognitive skills between ages 2 and 7 years. Affected individuals may have normal development or mild developmental delay, but all eventually lose all motor skills, resulting in inability to walk, absence of language, and profound intellectual disability. Brain imaging shows progressive cerebral and cerebellar atrophy (summary by Edvardson et al., 2017). [from OMIM]

Available tests

4 tests are in the database for this condition.

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Clinical tests (4 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CONDBA, NOR-90, UBF, UBF-1, UBF1, UBF2, UBTF
    Summary: upstream binding transcription factor

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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