X-linked Spasticity-intellectual Disability-epilepsy Syndrome
Description
This syndrome is characterised by myoclonic epilepsy with generalised spasticity and intellectual deficit. It has been described in six males from two generations of one family. Transmission appears to be X-linked recessive and the syndrome is caused by mutations in the aristaless-related homeobox gene (ARX, Xp22.13).
Genes related to X-linked Spasticity-intellectual Disability-epilepsy Syndrome
- ARX
Clinical Features
Phenotypes and symptoms related to X-linked Spasticity-intellectual Disability-epilepsy Syndrome
- Intellectual disability
- Spasticity
- Hypertonia
- Rigidity
- Status epilepticus
- Muscle stiffness
- Hemiplegia
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.X-linked Spasticity-intellectual Disability-epilepsy Syndrome Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
ARX Comprehensive - Sequence & Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories (United States).
ARX
Specificity
100 %
Genes
100 % |
ARX Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories (United States).
ARX
Specificity
100 %
Genes
100 % |
ARX Deletion/Duplication Analysis (Prenatal Diagnosis).
By Baylor Miraca Genetics Laboratories (United States).
ARX
Specificity
100 %
Genes
100 % |
ARX Sequence Analysis.
By Baylor Miraca Genetics Laboratories (United States).
ARX
Specificity
100 %
Genes
100 % |
ARX Sequence Analysis (Familial Mutation/Variant Analysis).
By Baylor Miraca Genetics Laboratories (United States).
ARX
Specificity
100 %
Genes
100 % |
ARX Sequence Analysis (Prenatal Diagnosis).
By Baylor Miraca Genetics Laboratories (United States).
ARX
Specificity
100 %
Genes
100 % |
ARX Sequencing and CNV Evaluation (Epilepsy).
By Athena Diagnostics Inc (United States).
ARX
Specificity
100 %
Genes
100 % |
Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations.
By Athena Diagnostics Inc (United States).
SHH, STIL, SIX3, TUBA8, SLC25A19, DEAF1, ARFGEF2, RAB3GAP1, CENPJ, NDE1, FKRP, ARX, ASPM, POMGNT1, POMT2, TUBA1A, COL4A1, CPT2, WDR62, DCX , (...)
View the complete list with 20 more genes
Specificity
3 %
Genes
100 % |
You can get up to 215 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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