MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: childhood-onset epilepsy syndrome (MONDO:0020072)
..Starting node ..early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation ()
Child Nodes:
Sister Nodes:
..acute encephalopathy with inflammation-mediated status epilepticus ()
..atypical childhood epilepsy with centrotemporal spikes ()
..benign occipital epilepsy ()
..childhood absence epilepsy ()
..cryptogenic late-onset epileptic spasms ()
..early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation ()
..epilepsy with myoclonic absences ()
..familial partial epilepsy ()
..Jeavons syndrome ()
..Landau-Kleffner syndrome ()
..Lennox-Gastaut syndrome ()
..myoclonic-astastic epilepsy ()
..perioral myoclonia with absences ()
..photosensitive occipital lobe epilepsy ()
..progressive myoclonic epilepsy ()
..rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome ()
..rolandic epilepsy-speech dyspraxia syndrome ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	17325
Name:	early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
Definition:	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.
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Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
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