Autosomal Dominant Deafness-onychodystrophy Syndrome
Description
Dominant deafness-onychodystrophy (DDOD) syndrome is a multiple congenital anomalies syndrome characterized by congenital hearing impairment, small or absent nails on the hands and feet, and small terminal phalanges.
Genes related to Autosomal Dominant Deafness-onychodystrophy Syndrome
- ATP6V1B2
Clinical Features
Top most frequent phenotypes and symptoms related to Autosomal Dominant Deafness-onychodystrophy Syndrome
- Intellectual disability
- Seizures
- Hearing impairment
- Sensorineural hearing impairment
- Abnormal facial shape
- Brachydactyly
- Midface retrusion
- High forehead
- Pes planus
- Deeply set eye
And another 30 symptoms. If you need more information about this disease we can help you.
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
Autosomal Dominant Deafness-onychodystrophy Syndrome Is also known as ddod syndrome.
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.Autosomal Dominant Deafness-onychodystrophy 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
100 % |
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
100 % |
Lysosomal and peroxisomal diseases (NGS panel of 109 genes).
By CGC Genetics (Portugal).
SC5D, SCP2, SGSH, SHOX, SLC17A5, SMPD1, TCIRG1, ACOX1, ACP2, MCOLN1, NPC2, ADAMTSL2, SUGCT, SCARB2, FIG4, SIAE, ATP6AP2, ATP6V0A2, HPS6, LYST , (...)
View the complete list with 88 more genes
Specificity
1 %
Genes
100 % |
Lysosomal and peroxisomal diseases (NGS panel of 109 genes).
By CGC Genetics (Portugal).
SC5D, SCP2, SGSH, SHOX, SLC17A5, SMPD1, TCIRG1, ACOX1, ACP2, MCOLN1, NPC2, ADAMTSL2, SUGCT, SCARB2, FIG4, SIAE, ATP6AP2, ATP6V0A2, HPS6, LYST , (...)
View the complete list with 88 more genes
Specificity
1 %
Genes
100 % |
Zimmermann-Laband syndrome NGS panel.
By Connective Tissue Gene Tests (United States).
KCNH1, ATP6V1B2
Specificity
50 %
Genes
100 % |
Zimmermann-Laband syndrome Deletion / Duplication panel.
By Connective Tissue Gene Tests (United States).
KCNH1, ATP6V1B2
Specificity
50 %
Genes
100 % |
Zimmermann-Laband syndrome Comprehensive panel.
By Connective Tissue Gene Tests (United States).
KCNH1, ATP6V1B2
Specificity
50 %
Genes
100 % |
Mental retardation - different panels.
By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).
RGS7, RIT1, RMRP, BCS1L, RPL10, RPS6KA3, RRAS, SALL1, SC5D, ATXN10, BLM, SCN1A, SCN2A, SCN8A, SCO2, AIMP1, SDCCAG8, SDHA, SDHB, SGSH , (...)
View the complete list with 845 more genes
Specificity
1 %
Genes
100 % |
You can get up to 4 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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