Mental Retardation, Autosomal Dominant 42; Mrd42

Description

Autosomal dominant mental retardation-42 is a neurodevelopmental disorder characterized by global developmental delay and intellectual disability. More variable features include hypotonia, often later associated with limb hypertonia, seizures of various types, and poor overall growth. Strabismus, cortical visual impairment, and autistic features may also be present (summary by Petrovski et al., 2016).

Clinical Features

Top most frequent phenotypes and symptoms related to Mental Retardation, Autosomal Dominant 42; Mrd42

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Nystagmus
  • Failure to thrive
  • Strabismus
  • Cleft palate
  • Visual impairment

And another 13 symptoms. If you need more information about this disease we can help you.

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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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Mental Retardation, Autosomal Dominant 42; Mrd42 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Dystonia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, SCN8A, SCP2, SDHA, SGCE, SLC16A2, SLC20A2, SLC2A1, SLC6A3, SLC6A8, SPR, SQSTM1, STXBP1, SUCLA2, SUOX, SURF1, SYNJ1, TAF1, TBCD, TH , (...)

View the complete list with 150 more genes
Specificity
1 %
Genes
100 %
Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RORB, SCN10A, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, ST3GAL3, ST3GAL5, SLC17A5, SLC1A2, SLC2A1, SLC35A2, SLC6A1, SLC9A6, SMARCA2, SMC1A, SNAP25, SON, SPTAN1 , (...)

View the complete list with 133 more genes
Specificity
1 %
Genes
100 %
GNB1.

By Fulgent Genetics Fulgent Genetics (United States).

GNB1
Specificity
100 %
Genes
100 %
Comprehensive Epilepsy Panel.

By Blueprint Genetics (Finland).

SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SCO1, AIMP1, ST3GAL3, ST3GAL5, SLC25A1, SLC25A15, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, KDM5C, SMS, SNAP25, SIK1 , (...)

View the complete list with 263 more genes
Specificity
1 %
Genes
100 %
Mental Retardation (Complete Panel) , Panel Massive Sequencing (NGS) 91 Genes.

By Reference Laboratory Genetics (Spain).

RPS6KA3, ST3GAL3, SLC6A8, SMARCA4, SMARCB1, ARID1A, KDM5C, STXBP1, SYNGAP1, SYP, TAF2, TSPAN7, MED12, TRIO, VLDLR, ZBTB18, ZNF711, FTSJ1, ERLIN2, CA8 , (...)

View the complete list with 71 more genes
Specificity
2 %
Genes
100 %
Autosomal Dominant Mental Retardation , Panel Massive Sequencing (NGS) 31 Genes.

By Reference Laboratory Genetics (Spain).

SMARCA4, SMARCB1, ARID1A, SYNGAP1, TRIO, ZBTB18, CACNG2, DEAF1, SETBP1, ADNP, ZMYND11, CDH15, ARID1B, POGZ, MBD5, KIRREL3, KANSL1, EHMT1, CTNNB1, TBL1XR1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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