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:
expandneuromuscular junction disease (MONDO:0020124)
Parent Node:
expandrare disorder with ptosis (MONDO:0020169)
..Starting node
..expandcongenital myasthenic syndrome ()

       Child Nodes:
........expandcongenital myasthenic syndrome with tubular aggregates ()
........expandcongenital myasthenic syndromes with glycosylation defect ()
........expandmyasthenia, congenital, refractory to acetylcholinesterase inhibitors ()
........expandmyasthenic syndrome, congenital, 22 ()
........expandpostsynaptic congenital myasthenic syndrome ()
........expandpresynaptic congenital myasthenic syndrome ()
........expandsynaptic congenital myasthenic syndrome ()



 Sister Nodes: 
..expandAcrootoocular syndrome ()
..expandatrioventricular defect-blepharophimosis-radial and anal defect syndrome ()
..expandBaraitser-Winter cerebrofrontofacial syndrome ()
..expandblepharophimosis, ptosis, and epicanthus inversus syndrome ()
..expandblepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome ()
..expandblepharophimosis-radioulnar synostosis syndrome ()
..expandBorjeson-Forssman-Lehmann syndrome ()
..expandcamptodactyly, myopia, and fibrosis of the medial rectus muscle of eye ()
..expandcentronuclear myopathy ()
..expandChar syndrome ()
..expandcongenital fibrosis of extraocular muscles ()
..expandcongenital Horner syndrome (disease) ()
..expandcongenital myasthenic syndrome ()
..expandcongenital ptosis (disease) ()
..expandCornelia de Lange syndrome ()
..expanddopamine beta-hydroxylase deficiency ()
..expandDubowitz syndrome ()
..expandGoldberg-Shprintzen megacolon syndrome ()
..expandJacobsen syndrome ()
..expandjaw-winking syndrome ()
..expandmaternally-inherited progressive external ophthalmoplegia ()
..expandmetopic ridging-ptosis-facial dysmorphism syndrome ()
..expandmitochondrial neurogastrointestinal encephalomyopathy ()
..expandmucopolysaccharidosis type 2 ()
..expandmyotonic dystrophy type 1 ()
..expandmyotonic dystrophy type 2 ()
..expandNoonan syndrome ()
..expandoculogastrointestinal muscular dystrophy ()
..expandoculopharyngeal muscular dystrophy ()
..expandoculopharyngodistal myopathy ()
..expandptosis-strabismus-ectopic pupils syndrome ()
..expandptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome ()
..expandptosis-vocal cord paralysis syndrome ()
..expandSaethre-Chotzen syndrome ()
..expandSmith-Lemli-Opitz syndrome ()
..expandTreacher-Collins syndrome ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:18940
Name:congenital myasthenic syndrome
Definition:Congenital myasthenic syndrome (CMS) is a group of genetic disorders of impaired neuromuscular transmission at the motor endplate characterized by fatigable muscle weakness.
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Synonyms:CMS; congenital MG; congenital myasthenia; erb-Goldflam syndrome; familial limb-girdle myasthenia; myasthenia gravis congenital; myasthenia gravis pseudoparalytica; myasthenic syndrome, congenital
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal