Mental Retardation, Autosomal Dominant 33; Mrd33

Clinical Features

Top most frequent phenotypes and symptoms related to Mental Retardation, Autosomal Dominant 33; Mrd33

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Intellectual disability, severe
  • Intellectual disability, mild
  • Delayed skeletal maturation
  • Hyperactivity
  • Attention deficit hyperactivity disorder
  • Memory impairment

And another 3 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 33; Mrd33 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Autism Spectrum Disorders 53-Gene Panel.

By Center for Human Genetics, Inc (United States).

RPL10, SYN1, SYNGAP1, TSPAN7, PCDH10, CNTNAP2, SH3KBP1, CACNA1H, PCDH19, NLGN4X, NLGN3, NLGN1, SHANK3, SHANK2, WNK3, DIAPH3, RAB39B, NOS1AP, ASTN2, CNTNAP5 , (...)

View the complete list with 32 more genes
Specificity
2 %
Genes
100 %
DPP6.

By Institute for Human Genetics University Clinic Freiburg (Germany).

DPP6
Specificity
100 %
Genes
100 %
Cardiac Arrhythmia NGS Multi-Gene Panel (48 genes), Sequence & CNV analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands).

RYR2, SCN10A, SCN1B, SCN2B, SCN4B, SCN5A, SNTA1, TNNT2, TRDN, CACNA1C, CACNA1D, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, SLMAP, HCN4 , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
100 %
Comprehensive Cardiology Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RYR1, RYR2, SCN1B, SCN2B, SCN4B, SCN5A, SCO2, SGCD, SGCG, BRAF, SLC25A4, SNTA1, SOS1, SREBF2, TAZ, TBX3, TBX5, TCAP, TGFB2, TGFB3 , (...)

View the complete list with 143 more genes
Specificity
1 %
Genes
100 %
Pan Cardiomyopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RYR2, SCN5A, SCO2, SGCD, SGCG, BRAF, SOS1, TAZ, TCAP, TGFB3, TGFBR2, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL, MYOZ2 , (...)

View the complete list with 62 more genes
Specificity
2 %
Genes
100 %
Mental retardation - different panels.

By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).

RGS7, RIT1, RMRP, BCS1L, RPL10, RPS6KA3, RRAS, SALL1, SC5D, ATXN10, BLM, SCN1A, SCN2A, SCN8A, SCO2, AIMP1, SDCCAG8, SDHA, SDHB, SGSH , (...)

View the complete list with 845 more genes
Specificity
1 %
Genes
100 %
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT), Paroxysmal/ Idiopathic Ventricular Fibrillation / Tachycardia Panel.

By CeGaT GmbH (Germany).

RYR2, SCN5A, TRDN, CALM1, CALM2, CASQ2, DPP6, GNAI2, ANK2, KCNJ2
Specificity
10 %
Genes
100 %
Amyotrophic Lateral Sclerosis (ALS) Panel.

By CeGaT GmbH (Germany).

ATXN1, ATXN2, SOD1, SPG11, SQSTM1, TAF15, TARDBP, TBK1, TUBA4A, UBQLN2, VAPB, VCP, VEGFA, CHCHD10, SS18L1, PARK7, FIG4, SRCAP, OPTN, SPART , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
100 %

You can get up to 8 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 Symptoms Checker

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