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Autosomal recessive nonsyndromic hearing loss 85(DFNB85)

MedGen UID:
463629
•Concept ID:
C3160740
•
Disease or Syndrome
Synonym: Deafness, autosomal recessive 85
 
Monarch Initiative: MONDO:0013250
OMIM®: 613392

Definition

An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 17p12-q11.2. [from MONDO]

Clinical features

From HPO
Prelingual sensorineural hearing impairment
MedGen UID:
867432
•Concept ID:
C4021806
•
Disease or Syndrome
A form of sensorineural deafness with either congenital onset or infantile onset, i.e., before the acquisition of speech.
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Clinical prediction guides

The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3.
Ain Q, Nazli S, Riazuddin S, Jaleel AU, Riazuddin SA, Zafar AU, Khan SN, Husnain T, Griffith AJ, Ahmed ZM, Friedman TB, Riazuddin S
Hum Genet 2007 Dec;122(5):445-50. Epub 2007 Aug 10 doi: 10.1007/s00439-007-0418-z. PMID: 17690910
A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1.
Ramzan K, Shaikh RS, Ahmad J, Khan SN, Riazuddin S, Ahmed ZM, Friedman TB, Wilcox ER, Riazuddin S
Hum Genet 2005 Jan;116(1-2):17-22. Epub 2004 Nov 6 doi: 10.1007/s00439-004-1205-8. PMID: 15538632

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