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: infancy electroclinical syndrome (MONDO:0000413)
Parent Node: neonatal/infantile epilepsy syndrome (MONDO:0100022)
..Starting node ..West syndrome ()
Child Nodes:
........epileptic encephalopathy, early infantile, 1 ()
........epileptic encephalopathy, early infantile, 12 ()
........epileptic encephalopathy, early infantile, 15 ()
........epileptic encephalopathy, early infantile, 2 ()
........epileptic encephalopathy, early infantile, 27 ()
........epileptic encephalopathy, early infantile, 30 ()
........epileptic encephalopathy, early infantile, 40 ()
........epileptic encephalopathy, early infantile, 5 ()
Sister Nodes:
..early infantile epileptic encephalopathy ()
..early myoclonic encephalopathy ()
..epilepsy of infancy with migrating focal seizures ()
..febrile seizures plus, genetic epilepsy with febrile seizures plus ()
..myoclonic encephalopathy in non-progressive disorder ()
..myoclonic epilepsy of infancy ()
..self-limited familial and non-familial infantile seizures ()
..self-limited familial and non-familial neonatal seizures ()
..West syndrome ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	18097
Name:	West syndrome
Definition:	West syndrome (or infantile spasms) is characterised by the association of clusters of axial spasms, psychomotor retardation and an hypsarrhythmic interictal EEG pattern. It is the most frequent type of epileptic encephalopathy. It may occur in otherwise healthy infants and in those with abnormal cognitive development.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	infantile spasms; Infantile spasms syndrome; intellectual disability-hypsarrhythmia syndrome; tonic spasms with clustering, arrest of psychomotor development and hypsarrhythmia on EEG; West's syndrome; X-linked infantile spasm syndrome; X-linked infantile spasms
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal