Mental Retardation, Autosomal Dominant 50; Mrd50

Table of contents:

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

Genes related to Mental Retardation, Autosomal Dominant 50; Mrd50

NAA15

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Mental Retardation, Autosomal Dominant 50; Mrd50

Intellectual disability
Seizures
Global developmental delay
Short stature
Generalized hypotonia
Growth delay
Abnormal facial shape
Feeding difficulties
Delayed speech and language development
Motor delay

And another 8 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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 50; Mrd50 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Autism Spectrum Disorders Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). SCN1A, SCN2A, SGSH, BRAF, SLC6A1, SLC9A6, SPAST, CDKL5, STXBP1, SYN2, TBR1, TCF20, TCF4, TSC1, TSC2, UBE3A, BCL11A, CNTNAP2, CACNA1C, CSMD1 , (...) View the complete list with 85 more genes Panel complete gene list SCN1A, SCN2A, SGSH, BRAF, SLC6A1, SLC9A6, SPAST, CDKL5, STXBP1, SYN2, TBR1, TCF20, TCF4, TSC1, TSC2, UBE3A, BCL11A, CNTNAP2, CACNA1C, CSMD1, NSD1, AUTS2, PCDH19, NLGN4X, NLGN3, SHANK3, SHANK2, DEAF1, CACNA2D3, CTTNBP2, ADNP, TBC1D20, RAB39B, BCKDK, ZMYND11, CDC42BPB, ARID1B, ARX, MFRP, GRIP1, POGZ, ASH1L, POMGNT1, CHD2, STXBP5, ZNF407, CHD8, UPF3B, MBD5, CHD7, WDFY3, ANKRD11, CNTN6, VPS13B, MED13L, DGAT2L6, KMT5B, EHMT1, CTNND2, KATNAL2, CUL3, SETD5, PTCHD1, DHCR7, DISC1, EFR3A, ADSL, TNRC6B, ASXL3, NEXMIF, C12orf57, PACS1, CC2D1A, DSCAM, NAA15, DYRK1A, ABCA7, FMR1, FOLR1, FOXG1, FOXP1, GABRB3, GAMT, GATM, GRIN2B, HCN1, ANK2, HOXA1, KCNQ3, KRAS, SMAD4, MAGEL2, MAOA, MECP2, MYO9B, MYT1L, NDP, NFIX, NRXN1, KAT2B, PQBP1, PTEN, RAD21, RAI1, RELN Specificity 1 % Genes 100 %
Congenital Heart Defects Panel. By CeGaT GmbH (Germany). SEMA3E, TBX1, TBX20, TBX3, TBX5, TFAP2B, TLL1, ZIC3, ACTC1, CRELD1, GATA5, ZFPM2, TAB2, ACVR2B, CFC1, CITED2, CHD7, MED13L, NKX2-5, CFAP53 , (...) View the complete list with 24 more genes Panel complete gene list SEMA3E, TBX1, TBX20, TBX3, TBX5, TFAP2B, TLL1, ZIC3, ACTC1, CRELD1, GATA5, ZFPM2, TAB2, ACVR2B, CFC1, CITED2, CHD7, MED13L, NKX2-5, CFAP53, NAA15, LEFTY2, NKX2-6, ELN, FLNA, FOXC1, FOXH1, GATA4, GATA6, GDF1, GJA1, GJA5, IRX4, JAG1, SMAD2, SMAD6, MYH6, MYH7, NODAL, NOTCH1, NOTCH2, NR2F2, PITX2, RBM10 Specificity 3 % Genes 100 %
NAA15. By Fulgent Genetics Fulgent Genetics (United States). NAA15 Specificity 100 % Genes 100 %
Congenital Structural Heart Disease Panel. By Blueprint Genetics (Finland). BMPR2, SOS2, TBX1, TBX20, TBX5, TFAP2B, TLL1, ZIC3, ACTA2, ACTB, ADAMTS10, NSD1, ACTC1, ACTG1, CRELD1, CBL, GATA5, SALL4, ZFPM2, TAB2 , (...) View the complete list with 42 more genes Panel complete gene list BMPR2, SOS2, TBX1, TBX20, TBX5, TFAP2B, TLL1, ZIC3, ACTA2, ACTB, ADAMTS10, NSD1, ACTC1, ACTG1, CRELD1, CBL, GATA5, SALL4, ZFPM2, TAB2, ACVR1, ADAMTS17, CDK13, ACVR2B, CHD4, EIF2AK4, TGDS, CHD7, BCOR, NKX2-5, CTC1, DHCR7, NAA15, EFTUD2, LEFTY2, NKX2-6, ELN, ENG, FLNA, GATA4, GATA6, GDF1, GJA1, GJA5, GPC3, HAND1, HOXA1, HRAS, JAG1, MEIS2, MYCN, ABL1, NF1, NODAL, NOTCH1, NOTCH2, NR2F2, PITX2, B3GAT3, PPP1CB, PRKD1, RBM10 Specificity 2 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

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