Metadata | |
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ID | DOID:0111639 |
Name | 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. https://www.ncbi.nlm.nih.gov/pubmed/29107558 |
Xrefs | |
Synonyms |
autosomal recessive deafness 109 [EXACT] DFNB109 [EXACT] |
Parent Relationships |