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Autosomal recessive non-syndromic genetic…

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Autosomal recessive non-syndromic genetic deafness

ORPHA:90636Etiological subtype

Also called Autosomal recessive isolated neurosensory deafness · Autosomal recessive isolated neurosensory hearing loss · Autosomal recessive isolated sensorineural deafness · Autosomal recessive isolated sensorineural hearing loss · Autosomal recessive non-syndromic genetic hearing loss · Autosomal recessive non-syndromic neurosensory deafness · Autosomal recessive non-syndromic neurosensory hearing loss · Autosomal recessive non-syndromic sensorineural deafness · Autosomal recessive non-syndromic sensorineural hearing loss · Non-syndromic genetic DFNB

What it is

Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.

Key facts

Age of onset
Infancy, Neonatal
Inheritance
Autosomal recessive
Classified as
Etiological subtype

Genes

ADCY1Disease-causing germline mutation(s) (loss of function)
AFG2BDisease-causing germline mutation(s)
BDP1Disease-causing germline mutation(s)
BSNDDisease-causing germline mutation(s)
CABP2Disease-causing germline mutation(s)
CDC14ADisease-causing germline mutation(s) (loss of function)
CDH23Disease-causing germline mutation(s)
CEACAM16Disease-causing germline mutation(s)
CIB2Disease-causing germline mutation(s)
CLDN14Disease-causing germline mutation(s)
CLIC5Disease-causing germline mutation(s)
COL11A2Disease-causing germline mutation(s)
DCDC2Disease-causing germline mutation(s)
ELMOD3Disease-causing germline mutation(s)
EPS8Disease-causing germline mutation(s) (loss of function)
EPS8L2Disease-causing germline mutation(s)
ESPNDisease-causing germline mutation(s)
ESRRBDisease-causing germline mutation(s)
GIPC3Disease-causing germline mutation(s)
GJB2Disease-causing germline mutation(s)
GJB3Disease-causing germline mutation(s)
GJB6Disease-causing germline mutation(s)
GPSM2Disease-causing germline mutation(s)
GRAPDisease-causing germline mutation(s)
GRXCR1Disease-causing germline mutation(s)
GRXCR2Disease-causing germline mutation(s) (loss of function)
HGFDisease-causing germline mutation(s)
ILDR1Disease-causing germline mutation(s)
KARS1Disease-causing germline mutation(s)
LHFPL5Disease-causing germline mutation(s)
LOXHD1Disease-causing germline mutation(s)
LRTOMTDisease-causing germline mutation(s)
MARVELD2Disease-causing germline mutation(s)
METDisease-causing germline mutation(s)
MINAR2Disease-causing germline mutation(s)
MPZL2Disease-causing germline mutation(s)
MSRB3Disease-causing germline mutation(s)
MYO15ADisease-causing germline mutation(s)
MYO3ADisease-causing germline mutation(s)
MYO6Disease-causing germline mutation(s)
MYO7ADisease-causing germline mutation(s)
NARS2Disease-causing germline mutation(s)
OTOADisease-causing germline mutation(s)
OTOFDisease-causing germline mutation(s)
OTOGDisease-causing germline mutation(s)
OTOGLDisease-causing germline mutation(s)
PCDH15Disease-causing germline mutation(s)
PDZD7Disease-causing germline mutation(s)
PJVKDisease-causing germline mutation(s)
PNPT1Disease-causing germline mutation(s)
PPIP5K2Disease-causing germline mutation(s)
PTPRQDisease-causing germline mutation(s)
RDXDisease-causing germline mutation(s)
RIPOR2Disease-causing germline mutation(s)
ROR1Disease-causing germline mutation(s)
S1PR2Disease-causing germline mutation(s) (loss of function)
SERPINB6Disease-causing germline mutation(s)
SLC26A4Disease-causing germline mutation(s)
SLC26A5Disease-causing germline mutation(s)
SLITRK6Disease-causing germline mutation(s) (loss of function)
STRCDisease-causing germline mutation(s)
SYNE4Disease-causing germline mutation(s)
TBC1D24Disease-causing germline mutation(s)
TECTADisease-causing germline mutation(s)
TMC1Disease-causing germline mutation(s)
TMEM132EDisease-causing germline mutation(s)
TMIEDisease-causing germline mutation(s)
TMPRSS3Disease-causing germline mutation(s)
TMTC4Disease-causing germline mutation(s)
TPRNDisease-causing germline mutation(s)
TRIOBPDisease-causing germline mutation(s)
USH1CDisease-causing germline mutation(s)
WBP2Disease-causing germline mutation(s)
WHRNDisease-causing germline mutation(s)
GJA1Candidate gene tested

1 modifying gene — variants that can change how the disease behaves, not cause it

ATP2B2

ICD-10 codes

H90.3filed under a broader ICD-10 category — shared with 9 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Hearing Disorders and Deafness

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Benefit programs to look at

Deaf Access ProgramCaliforniaDeaf and Hard of Hearing ProgramWashingtonDeaf and Hard of Hearing ServicesMinnesotaDelaware Deaf and Hard of Hearing ProgramDelawareEarly Hearing Detection and InterventionHEALTH RESOURCES AND SERVICES ADMINISTRATIONFlorida Telecommunications Relay ServicesFloridaHearing Impaired ServicesRhode IslandIllinois Relay ServiceIllinois

Programs whose eligibility touches the same ICD-10 categories. Eligibility is decided by the administering agency, never by this page.

Cross-references

MONDO 0019588OMIM 220290OMIM 600060OMIM 600316OMIM 600791OMIM 600792OMIM 600971OMIM 600974OMIM 601071OMIM 601072OMIM 601386OMIM 601869OMIM 602092OMIM 603010OMIM 603098OMIM 603629OMIM 603678OMIM 603720OMIM 604060OMIM 605428OMIM 605818OMIM 607039OMIM 607084OMIM 607101OMIM 607239OMIM 607821OMIM 608219OMIM 608264OMIM 608265OMIM 608565OMIM 608653OMIM 609006OMIM 609439OMIM 609533OMIM 609646OMIM 609647OMIM 609706OMIM 609823OMIM 609941OMIM 609946OMIM 609952OMIM 610143OMIM 610153OMIM 610154OMIM 610212OMIM 610220OMIM 610248OMIM 610265OMIM 610419OMIM 611022OMIM 611451OMIM 612433OMIM 612645OMIM 612789OMIM 613079OMIM 613285OMIM 613307OMIM 613391OMIM 613392OMIM 613453OMIM 613685OMIM 613718OMIM 613865OMIM 613916OMIM 614035OMIM 614414OMIM 614617OMIM 614861OMIM 614899OMIM 614934OMIM 614944OMIM 614945OMIM 615429OMIM 615540OMIM 615837OMIM 615974OMIM 616042OMIM 616515OMIM 616705OMIM 617637OMIM 617639OMIM 617654OMIM 618003OMIM 618145OMIM 618257OMIM 618410OMIM 618422OMIM 618434OMIM 618456OMIM 618481OMIM 619093OMIM 619174OMIM 619500OMIM 619553OMIM 619615OMIM 619804OMIM 620238OMIM 620714OMIM 620722UMLS C5779549

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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