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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
autosomal recessive nonsyndromic deafness 109
Summary
- Synonym
-
- DFNB109
- autosomal recessive 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.
- Super Class
- autosomal recessive nonsyndromic deafness
External Links
- Disease Ontology
- DOID:0111639
- Mondo Disease Ontology
- OMIM
