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.

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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

SOURCES: OMIM ORPHANET

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


Potential gene panels for GRIN2D gene

Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection Panel

United States.

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 panel

Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel

United States.

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 panel

Neuromuscular Channelopathies , Panel Massive Sequencing (NGS) 44 Genes Panel

Spain.

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

More info about this panel


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