Mental Retardation, X-linked, With Or Without Seizures, Arx-related; Mrxarx

Description

ARX-related mental retardation is a form of nonsyndromic X-linked mental retardation. It is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from lissencephaly (LISX2 ) to Proud syndrome (OMIM ) to infantile spasms without brain malformations (EIEE1 ) to Partington syndrome (OMIM ) (Kato et al., 2004; Wallerstein et al., 2008).

Clinical Features

Top most frequent phenotypes and symptoms related to Mental Retardation, X-linked, With Or Without Seizures, Arx-related; Mrxarx

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Cognitive impairment
  • Macrocephaly
  • Obesity
  • Babinski sign
  • Dementia
  • Pes planus

And another 6 symptoms. If you need more information about this disease we can help you.

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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

Mental Retardation, X-linked, With Or Without Seizures, Arx-related; Mrxarx Is also known as mrx32, mrx38, mental retardation, x-linked 76, mental retardation, x-linked 38, mental retardation, x-linked 29, mrx54, mrx76, mental retardation, x-linked 32, mrx43, mrx29, mental retardation, x-linked 54, mental retardation, x-linked 33, mrx33, mental retardation, x.

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.

Mental Retardation, X-linked, With Or Without Seizures, Arx-related; Mrxarx 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

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Sources and references

You can check the following sources for additional information.

MESH OMIM Rare Disease Search Engine

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