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MIRAGE
autosomal dominant nonsyndromic deafness 87

Summary
Synonym
  • DFNA87
  • autosomal dominant deafness 87
Definition
An autosomal dominant nonsyndromic deafness characterized by prelingual profound sensorineural hearing loss with inner ear anomalies, including cochlear maldevelopment, absence of the osseous spiral lamina, and/or an enlarged vestibular aqueduct that has_material_basis_in heterozygous mutation in the PI4KB gene on chromosome 1q21.
Super Class
autosomal dominant nonsyndromic deafness
Disease Ontology
DOID:0070606
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
5298 PI4KB phosphatidylinositol 4-kinase beta
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: April 7, 2025