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 ..rolandic epilepsy-speech dyspraxia syndrome ()
Child Nodes:
........rolandic epilepsy, mental retardation, and speech dyspraxia, X-linked ()
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:	15587
Name:	rolandic epilepsy-speech dyspraxia syndrome
Definition:	Rolandic epilepsy-speech dyspraxia syndrome is a rare, genetic epilepsy characterized by speech disorder (including a range of symptoms from dysarthria, speech dyspraxia, receptive and expressive language delay/regression and acquired aphasia to subtle impairments of conversational speech) and epilepsy (mostly focal and secondary generalized childhood-onset seizures, sometimes with aura). Mild to severe intellectual disability may also be observed.
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Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
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