Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
Go to external page http://www.orpha.net/ORDO/Orphanet_289266
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation is a rare intellectual disability and epilepsy syndrome characterized by global developmental delay and mild to profound intellectual disability, multiple types of usually intractable focal and generalized seizures with variable abnormal EEG findings, and bilateral progressive parenchymal volume loss and thin corpus callosum on brain MRI.
This is just here as a test because I lose it
Term information
database
cross reference
- OMIM:613971 (E (Exact mapping: the two concepts are equivalent))
- ICD-10:E72.1 (- NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD10 code is attributed by Orphanet).)
definition citation
- Orphanet
expertlink
- https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=289266
hasDbXref
- OMIM:613971
- ICD-10:E72.1
has age of onset
- http://www.orpha.net/ORDO/Orphanet_409946
has inheritance
- http://www.orpha.net/ORDO/Orphanet_409929
has point prevalence range
- http://www.orpha.net/ORDO/Orphanet_409981
notation
- ORPHA:289266
part of
- http://www.orpha.net/ORDO/Orphanet_98259
- http://www.orpha.net/ORDO/Orphanet_611314
present in
- http://www.orpha.net/ORDO/Orphanet_409991
Term relations
Subclass of: