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: neonatal period electroclinical syndrome (MONDO:0000412)
..Starting node ..benign familial neonatal epilepsy ()
Child Nodes:
Sister Nodes:
..benign familial neonatal epilepsy ()
..benign neonatal seizures ()
..early myoclonic encephalopathy ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	2016
Name:	benign familial neonatal epilepsy
Definition:	A condition marked by recurrent seizures that occur during the first 4-6 weeks of life despite an otherwise benign neonatal course. Autosomal dominant familial and sporadic forms have been identified. Seizures generally consist of brief episodes of tonic posturing and other movements, apnea, eye deviations, and blood pressure fluctuations. These tend to remit after the 6th week of life. The risk of developing epilepsy at an older age is moderately increased in the familial form of this disorder. (Neurologia 1996 Feb;11(2):51-5)
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	familial neonatal seizures
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: YARS;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal