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Metadata
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

MIM:618145

Synonyms

autosomal recessive deafness 111 [EXACT]

DFNB111 [EXACT]

Parent Relationships

is_a autosomal recessive nonsyndromic deafness

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