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GTR Home > Conditions/Phenotypes > Hearing loss, autosomal recessive 100

Summary

DFNB100 is characterized by prelingual onset of profound sensorineural deafness without vestibular involvement (Yousaf et al., 2018). [from OMIM]

Available tests

2 tests are in the database for this condition.

Genes See tests for all associated and related genes

  • Also known as: CFAP160, DFNB100, HISPPD1, IP7K2, VIP2, PPIP5K2
    Summary: diphosphoinositol pentakisphosphate kinase 2

Clinical features

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