Deafness-infertility Syndrome

Description

Deafness-infertility syndrome (DIS) is a very rare syndrome associating sensorineural deafness and male infertility.

Clinical Features

Top most frequent phenotypes and symptoms related to Deafness-infertility Syndrome

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Low-set ears
  • Anemia
  • High palate
  • Brachydactyly
  • Prominent nasal bridge
  • Synophrys

And another 12 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Deafness-infertility Syndrome Is also known as deafness, sensorineural, and male infertility, chromosome 15q15.3 deletion syndrome, dis.

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-infertility Syndrome 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
50 %
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
2 %
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
50 %
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
2 %
Genes
100 %
Expanded Hearing Loss Panel, Sequencing and Deletion/Duplication.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

SMPX, TECTA, TMPRSS3, USH1C, USH2A, CLRN1, WFS1, ESPN, CDH23, ACTG1, PCDH15, STRC, USH1G, WHRN, OTOA, TMC1, TRIOBP, ADGRV1, CCDC50, CLDN14 , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
50 %
Audiome (hearing loss panel).

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).

BCS1L, SIX1, SNAI2, SMPX, SOX10, SUCLA2, TECTA, TIMM8A, TMPRSS3, USH1C, USH2A, CLRN1, TSPEAR, WFS1, ESPN, CLIC5, CDH23, CABP2, PCDH15, OSBPL2 , (...)

View the complete list with 85 more genes
Specificity
1 %
Genes
50 %
Deafness, autosomal recessive 16 (sequence analysis of STRC gene).

By CGC Genetics (Portugal).

STRC
Specificity
100 %
Genes
50 %
Non syndromic deafness AR and XL (NGS panel for 56 genes).

By CGC Genetics (Portugal).

SLC12A1, SMPX, TECTA, TMPRSS3, USH1C, TSPEAR, ESPN, CLIC5, CDH23, CABP2, PCDH15, STRC, WHRN, OTOA, TMC1, TMC2, TRIOBP, GIPC3, CLDN14, LHFPL5 , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
50 %

We have 19 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET MESH OMIM Genetic Syndrome Finder

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