Mental Retardation, X-linked 41; Mrx41
Description
Nonsyndromic mental retardation.
Clinical Features
Phenotypes and symptoms related to Mental Retardation, X-linked 41; Mrx41
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Cognitive impairment
- Intellectual disability, severe
- Intellectual disability, moderate
- Dental crowding
- Pointed chin
- Absence seizures
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 41; Mrx41 Is also known as mental retardation, x-linked 48, mrx48.
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 41; Mrx41 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
NGS XLID Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
RPL10, RPS6KA3, SLC16A2, SLC9A6, SMC1A, KDM5C, SMS, SOX3, CDKL5, SYN1, SYP, TAF1, TIMM8A, TSPAN7, MED12, UBE2A, USP9X, ZMYM3, ZNF41, ZNF711 , (...)
View the complete list with 94 more genes
Specificity
1 %
Genes
100 % |
X-Linked Mental Retardation 41.
By Center for Human Genetics, Inc (United States).
GDI1
Specificity
100 %
Genes
100 % |
X-Linked Intellectual Disabilities Deletion/Duplication.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
RPL10, RPS6KA3, SLC16A2, SLC9A6, SMC1A, KDM5C, SMS, SOX3, CDKL5, SYN1, SYP, TIMM8A, TSPAN7, MED12, UBE2A, ZNF711, FTSJ1, NSDHL, PCDH19, NLGN4X , (...)
View the complete list with 68 more genes
Specificity
2 %
Genes
100 % |
X-linked Intellectual Disabilities Sequencing.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
RPL10, RPS6KA3, SLC16A2, SLC9A6, SMC1A, KDM5C, SMS, SOX3, CDKL5, SYN1, SYP, TIMM8A, TSPAN7, MED12, UBE2A, ZNF711, FTSJ1, NSDHL, PCDH19, NLGN4X , (...)
View the complete list with 68 more genes
Specificity
2 %
Genes
100 % |
X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
RPL10, RPS6KA3, SLC16A2, SLC9A6, SMC1A, KDM5C, SMS, SOX3, CDKL5, SYN1, SYP, TIMM8A, TSPAN7, MED12, UBE2A, ZNF711, FTSJ1, NSDHL, PCDH19, NLGN4X , (...)
View the complete list with 67 more genes
Specificity
2 %
Genes
100 % |
Non-Specific Intellectual Disability Panel.
By Genetic Services Laboratory University of Chicago (United States).
RPS6KA3, CLIP1, SCN2A, ST3GAL3, SLC16A2, SLC25A1, SLC6A8, SLC9A6, SMARCA4, SMARCB1, ARID1A, SMC1A, KDM5C, SMS, SOX11, CDKL5, STXBP1, SYN1, SYNGAP1, SYP , (...)
View the complete list with 153 more genes
Specificity
1 %
Genes
100 % |
X-linked Non-Specific Intellectual Disability Panel.
By Genetic Services Laboratory University of Chicago (United States).
RPL10, RPS6KA3, SLC16A2, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS, CDKL5, SYN1, SYP, TSPAN7, MED12, UBE2A, ZNF41, ZNF711, ZNF81, FTSJ1, NSDHL, PCDH19 , (...)
View the complete list with 59 more genes
Specificity
2 %
Genes
100 % |
CustomNext: Neuro.
By Ambry Genetics (United States).
RPL10, RPS6KA3, SCN1A, SCN1B, SCN2A, SCN8A, ST3GAL3, SLC16A2, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMC1A, KDM5C, SMS, SNAP25 , (...)
View the complete list with 176 more genes
Specificity
1 %
Genes
100 % |
You can get up to 28 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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