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autosomal recessive nonsyndromic deafness 99
Summary
- Synonym
-
- DFNB99
- autosomal recessive deafness 99
- Definition
- An autosomal recessive nonsyndromic deafness characterized by prelingual, severe to profound sensorineural hearing loss without vestibular dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM132E gene on chromosome 17q12.
- Super Class
- autosomal recessive nonsyndromic deafness
External Links
- Disease Ontology
- DOID:0111634
- Mondo Disease Ontology
- OMIM
Related Genes
