Noonan Syndrome 3; Ns3
Description
Noonan syndrome is an autosomal dominant dysmorphic syndrome characterized primarily by dysmorphic facial features, cardiac abnormalities, and short stature, among other features (summary by Shah et al., 1999).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ), which is caused by mutations in the PTPN11 gene (OMIM ). Approximately 50% of cases of Noonan syndrome are caused by mutations in PTPN11.
Clinical Features
Top most frequent phenotypes and symptoms related to Noonan Syndrome 3; Ns3
- Global developmental delay
- Short stature
- Hypertelorism
- Strabismus
- Abnormal facial shape
- Ptosis
- Low-set ears
- Cognitive impairment
- High palate
- Epicanthus
And another 28 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.
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.Noonan Syndrome 3; Ns3 Recommended genes panels
| Panel Name, Specifity and genes Tested/covered |
|---|
 KRAS Sequence Analysis.
By Baylor Miraca Genetics Laboratories (United States).
KRAS
Specificity
100 %
Genes
100 % |
|
KRAS Sequence Analysis (Familial Mutation/Variant Analysis).
By Baylor Miraca Genetics Laboratories (United States).
KRAS
Specificity
100 %
Genes
100 % |
|
KRAS Sequence Analysis (Prenatal Diagnosis).
By Baylor Miraca Genetics Laboratories (United States).
KRAS
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 % |
|
KRAS/RAF1/SOS1 DNA Sequencing Evaluation.
By Athena Diagnostics Inc (United States).
SOS1, KRAS, RAF1
Specificity
34 %
Genes
100 % |
|
KRAS DNA Sequencing Test.
By Athena Diagnostics Inc (United States).
KRAS
Specificity
100 %
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 % |
You can get up to 265 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
OMIM MESH Rare Disease Symptoms CheckerIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE; PLSDT GLUTATHIONE SYNTHETASE DEFICIENCY; GSSD BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY; BCD GLYCOGEN STORAGE DISEASE DUE TO MUSCLE PHOSPHOFRUCTOKINASE DEFICIENCY CHROMOSOME Xp11.23-p11.22 DUPLICATION SYNDROME CARDIOMYOPATHY, DILATED, 1J; CMD1J EPISODIC PAIN SYNDROME, FAMILIAL, 1; FEPS1