Neurofibromatosis-noonan Syndrome; Nfns

Clinical Features

Top most frequent phenotypes and symptoms related to Neurofibromatosis-noonan Syndrome; Nfns

  • Global developmental delay
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Muscle weakness
  • Cryptorchidism
  • Ptosis
  • Low-set ears
  • Delayed speech and language development
  • Depressed nasal bridge

And another 31 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.

Alternative names

Neurofibromatosis-noonan Syndrome; Nfns Is also known as neurofibromatosis with noonan phenotype, noonan-neurofibromatosis syndrome.

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.

Neurofibromatosis-noonan Syndrome; Nfns Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Neurofibromatosis Type 1 Deletion Test.

By Athena Diagnostics Inc (United States).

NF1
Specificity
100 %
Genes
100 %
Neurofibromatosis Type 1 (NF1) Evaluation.

By Athena Diagnostics Inc (United States).

NF1
Specificity
100 %
Genes
100 %
Neurofibromatosis Type 1 DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

NF1
Specificity
100 %
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 %
Neurofibromatosis Syndrome Type 1.

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

NF1
Specificity
100 %
Genes
100 %
Neurofibromatosis-Noonan syndrome.

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

NF1
Specificity
100 %
Genes
100 %
Neurofibromatosis 1 Sequencing.

By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital (United States).

NF1
Specificity
100 %
Genes
100 %
Neurofibromatosis 1 Deletion/Duplication analysis.

By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital (United States).

NF1
Specificity
100 %
Genes
100 %

You can get up to 272 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Symptoms Checker

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