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Ferguson-Bonni neurodevelopmental syndrome

Summary

Ferguson-Bonni neurodevelopmental syndrome (FERBON) is an autosomal recessive disorder characterized by global developmental delay, impaired intellectual development, and hypotonia with early motor delay. Additional features may include dysmorphic facies, mild skeletal abnormalities, and hearing loss (summary by Ferguson et al., 2022). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: APC7, FERBON, ANAPC7
    Summary: anaphase promoting complex subunit 7

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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