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).

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

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.


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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 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Symptoms Checker

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