Leigh Syndrome With Leukodystrophy
Genes related to Leigh Syndrome With Leukodystrophy
- SLC19A3
- MTFMT
- NDUFA2
- NDUFA13
- SDHA
- COX15
- NDUFS3
- NDUFV1
- NDUFAF5
- NDUFS7
- FOXRED1
- NDUFS4
- NDUFAF2
- NDUFS2
- NDUFV2
- NDUFS8
- NDUFS1
- SURF1
- PET100
- LIPT1
- NDUFA4
- NDUFA10
- NDUFAF6
- TACO1
- NDUFA12
- PDHA1
- ECHS1
- NDUFA9
Clinical Features
Top most frequent phenotypes and symptoms related to Leigh Syndrome With Leukodystrophy
- Seizures
- Global developmental delay
- Hearing impairment
- Nystagmus
- Failure to thrive
- Strabismus
- Muscular hypotonia
- Spasticity
- Ptosis
- Anemia
And another 23 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
Leigh Syndrome With Leukodystrophy Is also known as leigh disease with leukodystrophy, infantile subacute necrotizing encephalopathy with leukodystrophy.
Researches and researchers
Doctors, researchs, and experts related to Leigh Syndrome With Leukodystrophy extracted from public data.
Leigh Syndrome With Leukodystrophy Experts map
Current Researchs and researchers
-
ANGERS — Dr Valérie DESQUIRET-DUMAS
Investigator of research project
-
Institution/s:
— Centre hospitalier universitaire d'Angers -
Research area/topic::
Screening of pharmacological molecules to restore oxidative metabolism in rare diseases associated to mitochondrial complex I mutations
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Institution/s:
Leigh Syndrome With Leukodystrophy Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies.
By Athena Diagnostics Inc (United States).
SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN9A, ST3GAL5, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SUCLA2, SYNJ1, SLC4A10, CACNA1A, CACNA1H, CACNB4, PCDH19, SLC25A19, CASR , (...)
View the complete list with 64 more genes
Specificity
2 %
Genes
4 % |
Epilepsy Advanced Sequencing and CNV Evaluation.
By Athena Diagnostics Inc (United States).
SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS , (...)
View the complete list with 214 more genes
Specificity
1 %
Genes
4 % |
Epilepsy Advanced Sequencing and CNV Evaluation-Epileptic Encephalopathy.
By Athena Diagnostics Inc (United States).
SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, ST3GAL5, SLC2A1, SLC35A2, SLC9A6, SIK1, SPTAN1, CDKL5, STXBP1, SYNGAP1, TCF4, TREX1, UBE3A, WWOX, CNTNAP2, CACNA2D1 , (...)
View the complete list with 47 more genes
Specificity
2 %
Genes
4 % |
Biotin-Responsive Basal Ganglia Disease - SLC19A3 Sequencing.
By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States).
SLC19A3
Specificity
100 %
Genes
4 % |
Dystonia.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
SCP2, SGCE, SLC20A2, SLC2A1, SLC6A3, SPR, SUCLA2, SUOX, TAF1, TH, TIMM8A, TREX1, MCOLN1, FBXO7, CACNA1A, NPC2, PINK1, PANK2, SAMHD1, APTX , (...)
View the complete list with 57 more genes
Specificity
3 %
Genes
8 % |
Epilepsy/Seizure.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SLC2A1, SLC6A8, SLC9A6, BTD, SPTAN1, CDKL5, STXBP1, SYN1, TSC1, TSC2, UBE3A, CNTNAP2, CACNA1A, CACNB4, ARHGEF9 , (...)
View the complete list with 78 more genes
Specificity
2 %
Genes
4 % |
Movement Disorders Panel.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
SCP2, SGCE, SLC20A2, SLC2A1, SLC6A3, SNCA, SPR, SQSTM1, SUCLA2, SUOX, TAF1, TH, TIMM8A, TREX1, MCOLN1, VPS35, FBXO7, CACNA1A, NPC2, PINK1 , (...)
View the complete list with 72 more genes
Specificity
3 %
Genes
8 % |
Dystonia Exome Panel.
By Genetic Services Laboratory University of Chicago (United States).
BCS1L, SCN8A, SCP2, SDHA, SGCE, SLC16A2, SLC20A2, SLC2A1, SLC6A3, SLC6A8, SPR, SQSTM1, STXBP1, SUCLA2, SUOX, SURF1, SYNJ1, TAF1, TBCD, TH , (...)
View the complete list with 150 more genes
Specificity
14 %
Genes
83 % |
You can get up to 452 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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