Sotos Syndrome 1; Sotos1

Clinical Features

Top most frequent phenotypes and symptoms related to Sotos Syndrome 1; Sotos1

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Nystagmus
  • Neoplasm
  • Strabismus

And another 82 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
— The onset for some of the known clinical features related to this disease may vary, including congenital onset .

Alternative names

Sotos Syndrome 1; Sotos1 Is also known as chromosome 5q35 deletion syndrome, sotos syndrome, cerebral gigantism.

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.


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Sotos Syndrome 1; Sotos1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 %
NGS Overgrowth/Macrocephaly Panel.

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

MED12, NSD1, CDKN1C, PHF6, UPF3B, RNF135, CUL4B, DNMT3A, EZH2, GLI3, GPC3, NFIX, PTCH1, PTEN
Specificity
8 %
Genes
100 %
Sotos Syndrome.

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

NSD1
Specificity
100 %
Genes
100 %
Sotos Syndrome (NSD1).

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

NSD1
Specificity
100 %
Genes
100 %
Comprehensive Brain Malformation Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SHH, STIL, SIX3, SLC9A6, SOX2, CDKL5, TGIF1, MED12, CEP41, TUBA8, UBE3A, VLDLR, VRK1, ZIC2, ACTB, MRPS16, NSD1, RAB18, ACTG1, SLC25A19 , (...)

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

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

MED12, NSD1, PHF6, UPF3B, CUL4B, EZH2, GLI3, NFIX, PIK3CA, PTCH1, PTEN
Specificity
10 %
Genes
100 %
Sotos syndrome.

By Genetics Laboratory Shodair Children's Hospital (United States).

NSD1
Specificity
100 %
Genes
100 %

We have 103 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like UNC119, C. ELEGANS, HOMOLOG OF; UNC119 RUBINSTEIN-TAYBI SYNDROME 1; RSTS1 INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11; EIG11 TRITANOPIA METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE; MAHCJ SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE; SPG45

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