Intellectual Developmental Disorder With Cardiac Arrhythmia; Iddca
Description
Intellectual developmental disorder with cardiac arrhythmia is an autosomal recessive multisystem disorder characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, and bradycardia and/or cardiac sinus arrhythmias. Additional features include visual abnormalities, seizures, hypotonia, and gastric reflux (summary by Lodder et al., 2016).
Genes related to Intellectual Developmental Disorder With Cardiac Arrhythmia; Iddca
- GNB5
Clinical Features
Top most frequent phenotypes and symptoms related to Intellectual Developmental Disorder With Cardiac Arrhythmia; Iddca
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Nystagmus
- Delayed speech and language development
- Absent speech
- Arrhythmia
- Retinal degeneration
- Hypsarrhythmia
And another 4 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.
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.Intellectual Developmental Disorder With Cardiac Arrhythmia; Iddca Recommended genes panels
| Panel Name, Specifity and genes Tested/covered |
|---|
 GNB5.
By Fulgent Genetics Fulgent Genetics (United States).
GNB5
Specificity
100 %
Genes
100 % |
You can get up to -7 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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