autosomal dominant nonsyndromic deafness 44

Summary
Synonym
  • DFNA44
  • autosomal dominant deafness 44
Definition
An autosomal dominant nonsyndromic deafness that is characterized postlingual onset with low to mild frequency progressive hearing loss and has_material_basis_in mutation in the CCDC50 gene on chromosome 3q28.
Super Class
autosomal dominant nonsyndromic deafness
External Links
Disease Ontology
DOID:0110569
Mondo Disease Ontology
OMIM
Related Genes
Displaying entries 1 - 10 of 11 in total
Gene ID Gene Symbol Description Source
50 ACO2 aconitase 2
51 ACOX1 acyl-CoA oxidase 1
410 ARSA arylsulfatase A
5660 PSAP prosaposin
7007 TECTA tectorin alpha
22856 CHSY1 chondroitin sulfate synthase 1
25839 COG4 component of oligomeric golgi complex 4
135228 CD109 CD109 molecule
146183 OTOA otoancorin
220074 LRTOMT leucine rich transmembrane and O-methyltransferase domain containing

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


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Last updated: August 19, 2024