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

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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).

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

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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 Panel complete gene list SHH, STIL, SIX3, TUBA8, SLC25A19, DEAF1, ARFGEF2, RAB3GAP1, CENPJ, NDE1, FKRP, ARX, ASPM, POMGNT1, POMT2, TUBA1A, COL4A1, CPT2, WDR62, DCX, TSEN54, DPYD, SRPX2, TUBB2B, EMX2, FKTN, FGFR3, FLNA, FOLR1, ADGRG1, LAMA2, LARGE1, MCPH1, PAFAH1B1, PAX6, PEX7, POMT1, PQBP1, QARS, RELN Specificity 3 % Genes 100 %

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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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