Epileptic Encephalopathy, Early Infantile, 55; Eiee55
Genes related to Epileptic Encephalopathy, Early Infantile, 55; Eiee55
- PIGP
Clinical Features
Top most frequent phenotypes and symptoms related to Epileptic Encephalopathy, Early Infantile, 55; Eiee55
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
- Flexion contracture
- Feeding difficulties
- Visual impairment
- Hyperreflexia
- Hypoplasia of the corpus callosum
And another 12 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
Epileptic Encephalopathy, Early Infantile, 55; Eiee55 Is also known as glycosylphosphatidylinositol biosynthesis defect 14, gpibd14.
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.Epileptic Encephalopathy, Early Infantile, 55; Eiee55 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
RORB, RYR3, SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SGCE, ST3GAL3, ST3GAL5, SLC25A12, SLC2A1, SLC35A2, SLC35A3, SLC6A1, SLC6A8, SLC9A6, SMC1A , (...)
View the complete list with 202 more genes
Specificity
1 %
Genes
100 % |
PIGP.
By Fulgent Genetics Fulgent Genetics (United States).
PIGP
Specificity
100 %
Genes
100 % |
You can get up to -6 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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