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Metadata
DOID DOID:0110529
Name autosomal recessive nonsyndromic deafness 84A
Definition An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, progressive hearing loss and has_material_basis_in mutation in the PTPRQ gene on chromosome 12q21.
https://www.ncbi.nlm.nih.gov/pubmed/20346435
Synonyms

autosomal recessive deafness 84A [EXACT]

autosomal recessive deafness 84A with vestibular dysfunction [EXACT]

DFNB84A [EXACT]

Xrefs

ICD10CM:H90.3

OMIM:613391

Relationships

is_a autosomal recessive nonsyndromic deafness

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