Mental Retardation, Autosomal Dominant 45; Mrd45

Clinical Features

Top most frequent phenotypes and symptoms related to Mental Retardation, Autosomal Dominant 45; Mrd45

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Delayed speech and language development
  • Behavioral abnormality
  • Hyperactivity
  • Developmental regression
  • Attention deficit hyperactivity disorder
  • Abnormality of the cerebral white matter

And another 5 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.

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, Autosomal Dominant 45; Mrd45 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

BDNF, RPS6KA3, SCN2A, SCN8A, SLC16A2, SLC2A1, SLC6A8, SLC9A6, SMC1A, KDM5C, STXBP1, TBR1, TCF4, TSPAN7, TRIO, UBA7, UBE2A, ZNF711, BCL11A, FTSJ1 , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
100 %
CIC.

By Fulgent Genetics Fulgent Genetics (United States).

CIC
Specificity
100 %
Genes
100 %
Hemato-oncology chromosomal microarray.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center (United States).

BLM, BRAF, BRCA1, BRCA2, SMARCB1, KDM5C, SMO, ABI1, SSX1, SSX2, SSX4, SS18, STAG2, STAT5B, TAF15, TCF12, TERT, TFE3, TFEB, TP53 , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
100 %
CNS Tumor Gene Set.

By Genomics and Pathology Services Washington University in St. Louis (United States).

SHH, BRAF, SMARCA4, SMARCB1, SMO, TERT, MED12, TP53, WNT1, WT1, CIC, SUFU, CDKN2A, SETD2, TRAF7, CTNNB1, DAXX, DNMT3A, EGFR, ERBB2 , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
100 %
FoundationOne® Heme.

By Foundation Medicine, Inc. (United States).

BCL6, BCL7A, ROS1, RUNX1, BLM, SDHA, SDHB, SDHC, SDHD, SF3B1, SRSF2, SGK1, FOXL2, BRAF, BRCA1, BRCA2, SMARCA1, SMARCA4, SMARCB1, ARID1A , (...)

View the complete list with 374 more genes
Specificity
1 %
Genes
100 %
NeoTYPE® Discovery Profile for Solid Tumors.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. (United States).

BCL6, ROS1, RUNX1, BLM, SDHA, SDHB, SDHC, SDHD, SF3B1, FOXL2, BRAF, BRCA1, BRCA2, SLIT2, SMARCA4, SMARCB1, ARID1A, KDM5C, SMO, SNCAIP , (...)

View the complete list with 288 more genes
Specificity
1 %
Genes
100 %
Caris MI TumorSeek 592-Gene NGS Panel.

By Caris Life Sciences (United States).

BCL6, BCL7A, BCL9, BCR, ROS1, RPL10, RPL22, RPL5, RPN1, RUNX1, BLM, SDC4, SDHB, SDHC, SDHD, BMPR1A, SET, SF3B1, SFPQ, SRSF2 , (...)

View the complete list with 559 more genes
Specificity
1 %
Genes
100 %
Providence Personalized Medicine Panel - Solid Tumor.

By Providence Regional Laboratories Providence Health and Services (United States).

BCR, ROS1, RUNX1, SDHA, SDHB, SDHC, SDHD, SF3B1, SRSF2, FOXL2, BRAF, BRCA1, BRCA2, SMARCA4, SMARCB1, ARID1A, SMC1A, KDM5C, SMO, SOX2 , (...)

View the complete list with 281 more genes
Specificity
1 %
Genes
100 %

You can get up to 2 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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