Sotos Syndrome 3; Sotos3

Clinical Features

Top most frequent phenotypes and symptoms related to Sotos Syndrome 3; Sotos3

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Neoplasm
  • Cleft palate
  • Cryptorchidism
  • Hepatomegaly
  • Macrocephaly
  • Splenomegaly
  • Abnormality of cardiovascular system morphology

And another 77 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available Sotos Syndrome 3; Sotos3 have a estimated birth prevalence of 3.5 per 100k worldwide.
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.


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Sotos Syndrome 3; Sotos3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Sotos syndrome and related disorders Comprehensive panel.

By Connective Tissue Gene Tests (United States).

NSD1, APC2, EZH2, NFIX
Specificity
25 %
Genes
100 %
Sotos syndrome and related disorders Deletion/Duplication panel.

By Connective Tissue Gene Tests (United States).

NSD1, APC2, EZH2, NFIX
Specificity
25 %
Genes
100 %
Sotos syndrome and related disorders NGS panel.

By Connective Tissue Gene Tests (United States).

NSD1, APC2, EZH2, NFIX
Specificity
25 %
Genes
100 %
Mental retardation - different panels.

By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).

RGS7, RIT1, RMRP, BCS1L, RPL10, RPS6KA3, RRAS, SALL1, SC5D, ATXN10, BLM, SCN1A, SCN2A, SCN8A, SCO2, AIMP1, SDCCAG8, SDHA, SDHB, SGSH , (...)

View the complete list with 845 more genes
Specificity
1 %
Genes
100 %
APC2.

By Fulgent Genetics Fulgent Genetics (United States).

APC2
Specificity
100 %
Genes
100 %

We have -3 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET 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 SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13 MACULAR DYSTROPHY, VITELLIFORM, 5; VMD5 OOCYTE MATURATION DEFECT 3; OOMD3 PAPILLORENAL SYNDROME; PAPRS WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS KEPPEN-LUBINSKY SYNDROME; KPLBS CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K; CMT4K

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