autosomal recessive nonsyndromic deafness 63

Summary
Synonym
  • DFNB63
  • autosomal recessive deafness 63
Definition
An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the LRTOMT gene on chromosome 11q13.
Super Class
autosomal recessive nonsyndromic deafness
Disease Ontology
DOID:0110515
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
220074 LRTOMT leucine rich transmembrane and O-methyltransferase domain containing
The Human Phenotype Ontology
Displaying all 5 entries
HPO ID HPO Term
HP:0001098 Abnormal fundus morphology
HP:0003577 Congenital onset
HP:0000007 Autosomal recessive inheritance
HP:0008527 Congenital sensorineural hearing impairment
HP:0001751 Abnormal vestibular function
Displaying 1 entry
Gene ID Gene Symbol Description
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: December 9, 2024