Deafness, Autosomal Recessive 37; Dfnb37

Clinical Features

Phenotypes and symptoms related to Deafness, Autosomal Recessive 37; Dfnb37

  • Hearing impairment
  • Sensorineural hearing impairment
  • Abnormal facial shape
  • Rod-cone dystrophy
  • Bilateral sensorineural hearing impairment
  • Congenital sensorineural hearing impairment
  • Vestibular dysfunction
  • Congenital stationary night blindness
  • Morphological abnormality of the vestibule of the inner ear

Incidence and onset information

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 37; Dfnb37 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 %
NGS Hearing Loss Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SIX1, SNAI2, SMPX, SOX10, TECTA, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, TSPEAR, WFS1, ESPN, CDH23, CACNA1D, ACTG1, PCDH15, USH1G, WHRN , (...)

View the complete list with 70 more genes
Specificity
2 %
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 %
Hearing Loss Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RPS6KA3, SALL1, SEMA3E, SIX1, SIX5, SLC19A2, SNAI2, SMPX, SOX10, BTD, TCOF1, TECTA, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, WFS1, ESPN , (...)

View the complete list with 100 more genes
Specificity
1 %
Genes
100 %
OtoSeq Hearing Loss Panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

SIX1, SIX5, TMPRSS3, USH1C, USH2A, CLRN1, CDH23, PCDH15, USH1G, WHRN, TMC1, ADGRV1, TMIE, EYA1, FOXI1, GJB2, GJB6, KCNJ10, MYO6, MYO7A , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
MYO6 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

MYO6
Specificity
100 %
Genes
100 %
OtoSeq Hearing Loss Deletion/Duplication Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

SIX1, SIX5, TMPRSS3, USH1C, USH2A, CLRN1, CDH23, PCDH15, USH1G, TMC1, ADGRV1, TMIE, EYA1, FOXI1, GJB2, GJB6, KCNJ10, MYO6, MYO7A, OTOF , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
MYO6 Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

MYO6
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH Rare Disease Search Engine

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