Deafness, Autosomal Recessive 44; Dfnb44

Clinical Features

Phenotypes and symptoms related to Deafness, Autosomal Recessive 44; Dfnb44

  • Hearing impairment
  • Prelingual sensorineural hearing impairment
  • Moderate hearing impairment

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Deafness, Autosomal Recessive 44; Dfnb44 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hearing Loss Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc (United States).

BCS1L, ROR1, SALL1, SEMA3E, SIX1, SIX5, SLC12A1, SLC19A2, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMPRSS3, USH1C , (...)

View the complete list with 149 more genes
Specificity
1 %
Genes
100 %
OtoSCOPE.

By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics (United States).

ROR1, SIX1, SIX5, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TWNK, TCOF1, TECTA, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, TSPEAR, WFS1, ESPN , (...)

View the complete list with 130 more genes
Specificity
1 %
Genes
100 %
OtoGenome Test for Hearing Loss (110 Genes).

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine (United States).

BCS1L, SIX1, SNAI2, SMPX, SOX10, TECTA, TIMM8A, TMPRSS3, USH1C, USH2A, CLRN1, WFS1, ESPN, CLIC5, CDH23, CABP2, RIPOR2, CACNA1D, ACTG1, PCDH15 , (...)

View the complete list with 89 more genes
Specificity
1 %
Genes
100 %
Hearing Loss: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics (United States).

RPS6KA3, SALL1, SIX1, SIX5, SMPX, SOX10, BTD, TCOF1, TECTA, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, TSPEAR, WFS1, CLIC5, CDH23, CABP2 , (...)

View the complete list with 109 more genes
Specificity
1 %
Genes
100 %
ADCY1.

By Fulgent Genetics Fulgent Genetics (United States).

ADCY1
Specificity
100 %
Genes
100 %
Comprehensive Hearing Loss and Deafness Panel.

By Blueprint Genetics (Finland).

BCS1L, RPS6KA3, SALL1, SEMA3E, SIX1, SIX5, SLC19A2, SNAI2, SMPX, SOX10, BTD, SUCLA2, SUCLG1, TWNK, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMPRSS3 , (...)

View the complete list with 157 more genes
Specificity
1 %
Genes
100 %
Non-Syndromic Hearing Loss Panel.

By Blueprint Genetics (Finland).

SIX1, SMPX, TECTA, TJP2, TMPRSS3, USH1C, TSPEAR, WBP2, WFS1, ESPN, CLIC5, BDP1, CDH23, CABP2, RIPOR2, ACTG1, PCDH15, P2RX2, DIAPH3, OSBPL2 , (...)

View the complete list with 74 more genes
Specificity
2 %
Genes
100 %
DEAFNESS, NONSYNDROMIC SENSORINEURAL (AUTOSOMAL RECESSIVE) NGS PANEL.

By Laboratorio de Genetica Clinica SL (Spain).

SLC12A1, SMPX, TECTA, TMPRSS3, USH1C, TSPEAR, WBP2, CLIC5, CDH23, CABP2, RIPOR2, PCDH15, STRC, WHRN, BSND, TMC1, TRIOBP, CDC14A, DCDC2, GIPC3 , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like EPISODIC PAIN SYNDROME, FAMILIAL, 2; FEPS2 CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7; CDCBM7 HOLT-ORAM SYNDROME BLAU SYNDROME; BLAUS HYPEROSTOSIS CORTICALIS GENERALISATA MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS; MRFACD JOUBERT SYNDROME 15; JBTS15

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