MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO
Disease Browser
Parent Node:
expandcerebral malformation (MONDO:0016054)
Parent Node:
expandepilepsy (MONDO:0005027)
..Starting node
..expandcerebral malformation with epilepsy ()

       Child Nodes:
........expandAicardi syndrome ()
........expandcerebral malformation due to abnormal neuronal migration ()
........expandChristianson syndrome ()
........expanddiffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome ()
........expandfocal epilepsy-intellectual disability-cerebro-cerebellar malformation ()
........expandhemimegalencephaly ()
........expandholoprosencephaly ()
........expandhypothalamic hamartomas with gelastic seizures ()
........expandlissencephaly (disease) ()
........expandmicrolissencephaly-micromelia syndrome ()
........expandpachygyria-intellectual disability-epilepsy syndrome ()
........expandpartial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome ()
........expandporencephaly ()
........expandprimary microcephaly-epilepsy-permanent neonatal diabetes syndrome ()
........expandschizencephaly ()



 Sister Nodes: 
..expandarthrogryposis epileptic seizures migrational brain disorder ()
..expandcerebral diseases of vascular origin with epilepsy ()
..expandcerebral malformation with epilepsy ()
..expandchromosomal anomaly with epilepsy as a major feature ()
..expandCoffin-Lowry syndrome ()
..expandelectroclinical syndrome ()
..expandepilepsia partialis continua ()
..expandepilepsy syndrome ()
..expandextratemporal epilepsy ()
..expandgeneralised epilepsy ()
..expandidiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes ()
..expandimmune epilepsy ()
..expandinfectious disease with epilepsy ()
..expandinflammatory and autoimmune disease with epilepsy ()
..expandmetabolic disease with epilepsy ()
..expandmetabolic epilepsy ()
..expandmonogenic disease with epilepsy ()
..expandpartial epilepsy ()
..expandpost-traumatic epilepsy ()
..expandstatus epilepticus ()
..expandstructural epilepsy ()
..expandvariable age onset epilepsy ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:15655
Name:cerebral malformation with epilepsy
Definition:
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Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
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