Noonan Syndrome 7; Ns7

Description

Noonan syndrome is a developmental disorder characterized by reduced postnatal growth, dysmorphic facial features, cardiac defects, and variable cognitive defects (summary by Sarkozy et al., 2009).

Clinical Features

Top most frequent phenotypes and symptoms related to Noonan Syndrome 7; Ns7

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism
  • Abnormal facial shape
  • Low-set ears
  • Cognitive impairment
  • Feeding difficulties
  • Depressed nasal bridge

And another 14 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Noonan Syndrome 7; Ns7 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
BRAF Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

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

By Baylor Miraca Genetics Laboratories (United States).

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

By Baylor Miraca Genetics Laboratories (United States).

BRAF
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 %
Syndromic Autism Panel.

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

SCN1A, SCN2A, BRAF, SLC2A1, SLC9A6, SMC1A, KDM5C, CDKL5, STXBP1, TBR1, TCF4, MED12, TSC1, TSC2, UBE3A, HDAC8, CNTNAP2, FOXP2, CACNA1C, NSD1 , (...)

View the complete list with 63 more genes
Specificity
2 %
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 %
NGS RASopathy Panel.

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

RIT1, RRAS, BRAF, SOS1, SOS2, CBL, SHOC2, KAT6B, SPRED1, A2ML1, CABIN1, NSUN2, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NF2, NRAS , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Comprehensive Cardiac Panel.

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

RIT1, RYR2, SCN1B, SCN2B, SCN4B, SCN5A, SGCD, SLC22A5, BRAF, SNTA1, SOS1, TAZ, TCAP, TGFB3, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
100 %

We have 246 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SYNPOLYDACTYLY 2; SPD2 REYNOLDS SYNDROME

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more