Rett Syndrome
Description
Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting the central nervous system.
Clinical Features
Top most frequent phenotypes and symptoms related to Rett Syndrome
- Seizures
- Short stature
- Microcephaly
- Scoliosis
- Ataxia
- Failure to thrive
- Muscle weakness
- Spasticity
- Hepatomegaly
- Respiratory insufficiency
And another 29 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Based on the latest data available RETT SYNDROME have a estimated prevalence of 10 per 100k worldwide.— 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.Rett Syndrome Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
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 % |
MECP2 Comprehensive - Sequence & Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories (United States).
MECP2
Specificity
100 %
Genes
100 % |
MECP2 Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories (United States).
MECP2
Specificity
100 %
Genes
100 % |
MECP2 Deletion/Duplication Analysis (Prenatal Diagnosis).
By Baylor Miraca Genetics Laboratories (United States).
MECP2
Specificity
100 %
Genes
100 % |
MECP2 Sequence Analysis.
By Baylor Miraca Genetics Laboratories (United States).
MECP2
Specificity
100 %
Genes
100 % |
MECP2 Sequence Analysis (Familial Mutation/Variant Analysis).
By Baylor Miraca Genetics Laboratories (United States).
MECP2
Specificity
100 %
Genes
100 % |
MECP2 Sequence Analysis (Prenatal Diagnosis).
By Baylor Miraca Genetics Laboratories (United States).
MECP2
Specificity
100 %
Genes
100 % |
PreSeek Non-invasive Prenatal Gene Sequencing Screen.
By Baylor Miraca Genetics Laboratories (United States).
RIT1, BRAF, SMC1A, SOS1, SOS2, CDKL5, SYNGAP1, TSC1, TSC2, HDAC8, NSD1, CBL, SHOC2, CHD7, COL1A2, SMC3, NIPBL, FGFR2, FGFR3, HRAS , (...)
View the complete list with 9 more genes
Specificity
4 %
Genes
100 % |
You can get up to 222 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
ORPHANET Rare Disease Symptoms CheckerIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PROGEROID SYNDROME, PETTY TYPE NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS; TIIAC BARAITSER-WINTER CEREBROFRONTOFACIAL SYNDROME TAY-SACHS DISEASE; TSD