Deafness, Autosomal Recessive 18a; Dfnb18a
Clinical Features
Phenotypes and symptoms related to Deafness, Autosomal Recessive 18a; Dfnb18a
- Hearing impairment
- Sensorineural hearing impairment
- Rod-cone dystrophy
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.
Alternative names
Deafness, Autosomal Recessive 18a; Dfnb18a Is also known as deafness, autosomal recessive 18, dfnb18.
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.Deafness, Autosomal Recessive 18a; Dfnb18a Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
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USH1C Sequence Analysis (Prenatal Diagnosis).
By Baylor Miraca Genetics Laboratories (United States).
USH1C
Specificity
100 %
Genes
100 % |
USH1C Sequence Analysis.
By Baylor Miraca Genetics Laboratories (United States).
USH1C
Specificity
100 %
Genes
100 % |
USH1C Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories (United States).
USH1C
Specificity
100 %
Genes
100 % |
USH1C Comprehensive - Sequence & Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories (United States).
USH1C
Specificity
100 %
Genes
100 % |
MitoMet®Plus aCGH Analysis.
By Baylor Miraca Genetics Laboratories (United States).
RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)
View the complete list with 612 more genes
Specificity
1 %
Genes
100 % |
GeneAware Complete Panel Version 2 (Female).
By Baylor Miraca Genetics Laboratories (United States).
RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK , (...)
View the complete list with 139 more genes
Specificity
1 %
Genes
100 % |
GeneAware Complete Panel Version 2 (Male).
By Baylor Miraca Genetics Laboratories (United States).
RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, TGM1 , (...)
View the complete list with 129 more genes
Specificity
1 %
Genes
100 % |
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 % |
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Learn moreSources and references
You can check the following sources for additional information.
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