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Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss

Summary

Birk-Aharoni syndrome (BKAH) is a severe neurodevelopmental disorder characterized developmental delay, impaired intellectual development, absent speech, spastic tetraplegia with central hypotonia, chorea, inability to walk, hearing loss, micropenis, undescended testes, and mildly elevated liver enzymes (Aharoni et al., 2022). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: NEDGTH, P26S4, RPT2, S4, p56, PSMC1
    Summary: proteasome 26S subunit, ATPase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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