ORPHA:719921

Congenital myasthenic syndrome due to defective structural molecule at the neuromuscular junction

Synonyms: CMS due to defective structural molecule at the neuromuscular junction

Orphadata ships no English definition for this code.

Names in Orphadata languages

9 of 12 languages

Lang	Name	Synonyms
en	Congenital myasthenic syndrome due to defective structural molecule at the neuromuscular junction	CMS due to defective structural molecule at the neuromuscular junction
fr	Syndrome myasthénique congénital dû à une molécule structurelle défectueuse au niveau de la jonction neuromusculaire	SMC dû à une molécule structurelle défectueuse au niveau de la jonction neuromusculaire
de	Kongenitales myasthenes Syndrom durch defektes Strukturmolekül an der neuromuskulären Endplatte
es	Síndrome miasténico congénito por defecto molecular en la estructura de la unión neuromuscular	SMC por defecto molecular en la estructura de la unión neuromuscular
it	Sindrome miastenica congenita da difetto della molecola strutturale a livello della giunzione neuromuscolare	CMS da difetto della molecola strutturale a livello della giunzione neuromuscolare
nl	Congenitaal myastheen syndroom door defect van structureel molecule aan de neuromusculaire overgang	CMS door defect van structureel molecule aan de neuromusculaire overgang
pt	Congenital myasthenic syndrome due to defective structural molecule at the neuromuscular junction
pl	Congenital myasthenic syndrome due to defective structural molecule at the neuromuscular junction	= en
cs	Congenital myasthenic syndrome due to defective structural molecule at the neuromuscular junction	= en

qualifier = Orphanet mapping relation

No cross-references in this release.

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

ORPHA:98914Presynaptic congenital myasthenic syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare ophthalmic disorders

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
DES	Disease-causing germline mutation(s) in	Assessed	HGNC:2770	ENSG00000175084	125660	2q35	desmin	37721175[PMID]

0 records

No prevalence record in this release.

Orphanet has no HPO annotation for this code in this release.