Metadata | |
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ID | DOID:0111640 |
Name | autosomal recessive nonsyndromic deafness 111 |
Definition | An autosomal recessive nonsyndromic deafness characterized by early-onset, moderate to severe sensorineural hearing loss with no vestibular involvement that has_material_basis_in homozygous or compound heterozygous mutation in the MPZL2 gene on chromosome 11q23.33. https://www.ncbi.nlm.nih.gov/pubmed/29961571, https://www.ncbi.nlm.nih.gov/pubmed/29982980 |
Xrefs | |
Synonyms |
autosomal recessive deafness 111 [EXACT] DFNB111 [EXACT] |
Parent Relationships |