Noonan Syndrome 5; Ns5

Clinical Features

Top most frequent phenotypes and symptoms related to Noonan Syndrome 5; Ns5

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Abnormal facial shape
  • Ptosis
  • Low-set ears
  • Epicanthus
  • Macrocephaly
  • Downslanted palpebral fissures

And another 11 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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Noonan Syndrome 5; Ns5 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
RAF1 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RAF1
Specificity
100 %
Genes
100 %
RAF1 Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories (United States).

RAF1
Specificity
100 %
Genes
100 %
RAF1 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

RAF1
Specificity
100 %
Genes
100 %
PreSeek Non-invasive Prenatal Gene Sequencing Screen.

By Baylor Miraca Genetics Laboratories (United States).

RIT1, BRAF, SMC1A, SOS1, SOS2, CDKL5, SYNGAP1, TSC1, TSC2, HDAC8, NSD1, CBL, SHOC2, CHD7, COL1A2, SMC3, NIPBL, FGFR2, FGFR3, HRAS , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
RAF1 DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

RAF1
Specificity
100 %
Genes
100 %
KRAS/RAF1/SOS1 DNA Sequencing Evaluation.

By Athena Diagnostics Inc (United States).

SOS1, KRAS, RAF1
Specificity
34 %
Genes
100 %
Non-immune Hydrops Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RIT1, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, SEC23B, SLC17A5, BRAF, SMPD1, SOS1, SOS2, SOX18, UROS, CBL, SHOC2, ALG9 , (...)

View the complete list with 66 more genes
Specificity
2 %
Genes
100 %

We have 205 more panels available in our App

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Sources and references

You can check the following sources for additional information.

MESH OMIM Rare Disease Symptoms Checker

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