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.
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 |
---|
![]() By Athena Diagnostics Inc (United States).
NF1
Specificity
100 %
Genes
100 % |
![]() By Athena Diagnostics Inc (United States).
NF1
Specificity
100 %
Genes
100 % |
![]() By Athena Diagnostics Inc (United States).
NF1
Specificity
100 %
Genes
100 % |
![]() 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 % |
![]() By Center for Human Genetics, Inc (United States).
NF1
Specificity
100 %
Genes
100 % |
![]() By Center for Human Genetics, Inc (United States).
NF1
Specificity
100 %
Genes
100 % |
![]() By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital (United States).
NF1
Specificity
100 %
Genes
100 % |
![]() 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 moreSources and references
You can check the following sources for additional information.
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