Noonan Syndrome-like Disorder With Loose Anagen Hair 1; Nslh1
Description
Noonan syndrome-like disorder with loose anagen hair is characterized by facial features similar to those observed in Noonan syndrome (OMIM ), including hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly angulated ears, and overfolded pinnae. In addition, patients display short stature, frequently with growth hormone (GH; see {139250}) deficiency; cognitive deficits; relative macrocephaly; small posterior fossa resulting in Chiari I malformation; hypernasal voice; cardiac defects, especially dysplasia of the mitral valve and septal defects; and ectodermal abnormalities, in which the most characteristic feature is the hair anomaly, including easily pluckable, sparse, thin, slow-growing hair (summary by Bertola et al., 2017).
Genes related to Noonan Syndrome-like Disorder With Loose Anagen Hair 1; Nslh1
- SHOC2
Clinical Features
Top most frequent phenotypes and symptoms related to Noonan Syndrome-like Disorder With Loose Anagen Hair 1; Nslh1
- Intellectual disability
- Global developmental delay
- Short stature
- Generalized hypotonia
- Hypertelorism
- Strabismus
- Ptosis
- Low-set ears
- Cognitive impairment
- Feeding difficulties
And another 35 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
Noonan Syndrome-like Disorder With Loose Anagen Hair 1; Nslh1 Is also known as tosti syndrome, nslh.
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-like Disorder With Loose Anagen Hair 1; Nslh1 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
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SHOC2 Sequence Analysis.
By Baylor Miraca Genetics Laboratories (United States).
SHOC2
Specificity
100 %
Genes
100 % |
SHOC2 Sequence Analysis (Familial Mutation/Variant Analysis).
By Baylor Miraca Genetics Laboratories (United States).
SHOC2
Specificity
100 %
Genes
100 % |
SHOC2 Sequence Analysis (Prenatal Diagnosis).
By Baylor Miraca Genetics Laboratories (United States).
SHOC2
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 % |
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 % |
Noonan-like syndrome (SHOC2).
By Center for Human Genetics, Inc (United States).
SHOC2
Specificity
100 %
Genes
100 % |
You can get up to 113 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
OMIM Genetic Syndrome FinderIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like THROMBOCYTOPENIA WITH CONGENITAL DYSERYTHROPOIETIC ANEMIA HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1; HHF1 MYHRE SYNDROME; MYHRS DUCHENNE MUSCULAR DYSTROPHY