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 ..perioral myoclonia with absences ()
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:	15345
Name:	perioral myoclonia with absences
Definition:	Perioral myoclonia with absences is a rare epilepsy syndrome characterized by absence seizures with perioral myoclonia as the main seizure type, accompanied by generalized tonic-clonic seizures, appearing before or together with absences. Consciousness is usually impaired, although to variable degree. Commonly observed absence status epilepticus, poor response to antiepileptic drugs and persistence of seizures into adulthood, in the presence of normal neurological status and intelligence, are additional clinical features of this syndrome.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	POMA
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
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