Stankiewicz-isidor Syndrome; Stiss

Description

Stankiewicz-Isidor syndrome (STISS) is a neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, behavioral disorders, mild craniofacial anomalies, and variable congenital defects of the cardiac and/or urogenital systems (summary by Kury et al., 2017).

Clinical Features

Top most frequent phenotypes and symptoms related to Stankiewicz-isidor Syndrome; Stiss

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism
  • Nystagmus
  • Micrognathia
  • Strabismus
  • Cryptorchidism

And another 22 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.
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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Stankiewicz-isidor Syndrome; Stiss Recommended genes panels

Panel Name, Specifity and genes Tested/covered
PSMD12.

By Fulgent Genetics Fulgent Genetics (United States).

PSMD12
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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