Version: 8.0.0
Date: Tue Jan 28 2025
autosomal recessive nonsyndromic deafness 109
DOID:0111639
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

autosomal recessive nonsyndromic deafness 109

Definition
An autosomal recessive nonsyndromic deafness characterized by bilateral congenital severe to profound sensorineural hearing loss and vestibular dysplasia without balance or movement issues that has_material_basis_in homozygous or compound heterozygous mutation in the ESRP1 gene on chromosome 8q22.1.
Synonyms
  • autosomal recessive deafness 109
  • DFNB109
Cross References
Parent Terms
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None
Sources of Associations

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