Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures; Opa10
Genes related to Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures; Opa10
- RTN4IP1
Clinical Features
Top most frequent phenotypes and symptoms related to Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures; Opa10
- Intellectual disability
- Seizures
- Ataxia
- Nystagmus
- Peripheral neuropathy
- Optic atrophy
- Intellectual disability, mild
- Reduced visual acuity
- Photophobia
- Pallor
And another 4 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.
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.Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures; Opa10 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
![]() By Genetic Services Laboratory University of Chicago (United States).
BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)
View the complete list with 457 more genes
Specificity
1 %
Genes
100 % |
![]() By Institute for Human Genetics University Clinic Freiburg (Germany).
RTN4IP1
Specificity
100 %
Genes
100 % |
![]() By CGC Genetics (Portugal).
ACO2, RTN4IP1, TMEM126A, MT-ND1, MT-ND4, MT-ND6, OPA1, OPA3
Specificity
13 %
Genes
100 % |
![]() By CGC Genetics (Portugal).
RTN4IP1
Specificity
100 %
Genes
100 % |
![]() By CGC Genetics (Portugal).
ACO2, RTN4IP1, TMEM126A, MT-ND1, MT-ND4, MT-ND6, OPA1, OPA3
Specificity
13 %
Genes
100 % |
![]() By CGC Genetics (Portugal).
RTN4IP1
Specificity
100 %
Genes
100 % |
![]() By PreventionGenetics PreventionGenetics (United States).
RGS9, RHO, GRK1, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, RS1, CNNM4, SAG, SDCCAG8, SEMA4A, SLC24A1, SLC4A7, SPP2, PLK4, TEAD1 , (...)
View the complete list with 286 more genes
Specificity
1 %
Genes
100 % |
![]() By CeGaT GmbH (Germany).
SPG7, ACO2, TIMM8A, VAX2, WFS1, MFN2, RTN4IP1, CISD2, SLC25A46, TMEM126A, C12orf65, AFG3L2, NR2F1, OPA1, OPA3
Specificity
7 %
Genes
100 % |
You can get up to 7 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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