Perrault Syndrome 5; Prlts5
Clinical Features
Top most frequent phenotypes and symptoms related to Perrault Syndrome 5; Prlts5
- Seizures
- Hearing impairment
- Ataxia
- Nystagmus
- Sensorineural hearing impairment
- High palate
- Peripheral neuropathy
- Cerebellar atrophy
- Hyporeflexia
- Pes cavus
And another 14 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.Perrault Syndrome 5; Prlts5 Recommended genes panels
| Panel Name, Specifity and genes Tested/covered |
|---|
C10orf2 (TWINKLE) Comprehensive - Sequence & Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories (United States).
TWNK
Specificity
100 %
Genes
100 % |
C10orf2 (TWINKLE) Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories (United States).
TWNK
Specificity
100 %
Genes
100 % |
C10orf2 (TWINKLE) Sequence Analysis.
By Baylor Miraca Genetics Laboratories (United States).
TWNK
Specificity
100 %
Genes
100 % |
C10orf2 (TWINKLE) Sequence Analysis (Prenatal Diagnosis).
By Baylor Miraca Genetics Laboratories (United States).
TWNK
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 % |
mtDNA Depletion/Integrity Panel (MitomeNGS).
By Baylor Miraca Genetics Laboratories (United States).
SLC25A4, SUCLA2, SUCLG1, SUCLG2, TWNK, TK2, MGME1, RRM2B, DGUOK, TYMP, MPV17, OPA1, OPA3, POLG, POLG2
Specificity
7 %
Genes
100 % |
PEO Panel (MitomeNGS).
By Baylor Miraca Genetics Laboratories (United States).
SLC25A4, TWNK, MGME1, RRM2B, OPA1, OPA3, POLG, POLG2
Specificity
13 %
Genes
100 % |
Progressive External Ophthalmoplegia Evaluation (POLG, TWINKLE, ANT1, OPA1, MELAS).
By Athena Diagnostics Inc (United States).
SLC25A4, TWNK, MT-TL1, OPA1, POLG
Specificity
20 %
Genes
100 % |
You can get up to 93 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
OMIM Genetic Syndrome FinderIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SEVERE COMBINED IMMUNODEFICIENCY WITH MICROCEPHALY, GROWTH RETARDATION, AND SENSITIVITY TO IONIZING RADIATION HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2; CMH2 BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTS4A FAMILIAL PRIMARY HYPOMAGNESEMIA WITH NORMOCALCIURIA AND NORMOCALCEMIA NEPHRONOPHTHISIS 3; NPHP3
C10orf2 (TWINKLE) Comprehensive - Sequence & Deletion/Duplication Analysis.