GRIN2D gene related symptoms and diseases
All the information presented here about the GRIN2D gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to GRIN2D gene
Symptoms // Phenotype | % Cases |
---|---|
Status epilepticus | Very Common - Between 80% and 100% cases |
Global developmental delay | Very Common - Between 80% and 100% cases |
Generalized hypotonia | Very Common - Between 80% and 100% cases |
Microcephaly | Very Common - Between 80% and 100% cases |
Seizures | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with GRIN2D gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Hypertonia
- Absent speech
- Epileptic encephalopathy
- Muscular hypotonia of the trunk
Not very common - Between 30% and 50% cases
- Pes planus
- Visual impairment
- Dysphagia
- Constipation
And 24 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to GRIN2D gene
Here you will find a list of rare diseases related to the GRIN2D. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY
Alternate names
UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY Is also known as undetermined eoee
Most common symptoms of UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
More info about UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46; EIEE46
Most common symptoms of EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46; EIEE46
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
- Failure to thrive
More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46; EIEE46
SOURCES: OMIM
Search interest in GRIN2D
Potential gene panels for GRIN2D gene
Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection that also includes the following genes: RORB SCN10A SCN1A SCN1B SCN2A SCN8A SCN9A ST3GAL3 ST3GAL5 SLC17A5
More info about this panelEpilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Epilepsy and Seizure Plus Sequencing Panel with CNV Detection that also includes the following genes: RORB RYR3 SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SGCE
More info about this panelNeuromuscular Channelopathies , Panel Massive Sequencing (NGS) 44 Genes Panel
By Reference Laboratory Genetics Neuromuscular Channelopathies , Panel Massive Sequencing (NGS) 44 Genes that also includes the following genes: RYR1 SCN1A SCN1B SCN2A SCN4A SCN8A SCN9A ST3GAL3 ST3GAL5 SPTAN1
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