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GTR Home > Conditions/Phenotypes > Neurodevelopmental disorder with cerebellar atrophy and with or without seizures

Neurodevelopmental disorder with cerebellar atrophy and with or without seizures

Summary

Neurodevelopmental disorder with cerebellar atrophy and with or without seizures (NEDCAS) is an autosomal recessive disorder characterized by intellectual disability associated with ataxia (summary by Engel et al., 2023). [from OMIM]

Available tests

9 tests are in the database for this condition.

Clinical tests (9 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BAAT1, C7orf27, NEDCAS, RMFSL, BRAT1
    Summary: BRCA1 associated ATM activator 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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