Stankiewicz-isidor Syndrome; Stiss
Table of contents:
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
— 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.Stankiewicz-isidor Syndrome; Stiss Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
PSMD12.
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PSMD12
Specificity
100 %
Genes
100 % |
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Learn moreSources and references
You can check the following sources for additional information.
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