ORPHA:716889

Congenital myasthenic syndrome due to defective axonal transport

Synonyms: Myosin 9a deficiency

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 axonal transport	Myosin 9a deficiency
fr	Syndrome myasthénique congénital par défaut de transport axonal
de	Kongenitales myasthenes Syndrom durch Störung des axonalen Transports	Myosin 9a-Defizienz
es	Síndrome miasténico congénito por defectos del transporte axonal	Deficiencia de miosina 9a
it	Sindrome miastenica congenita dovuta a un difetto nel trasporto assonale	Deficit di miosina 9a
nl	Congenitaal myastheen syndroom door defect van axonaal transport	Deficiëntie van myosine 9a · CMS door defect van axonaal transport
pt	Congenital myasthenic syndromes due to defective axonal transport
pl	Wrodzone zespoły miasteniczne spowodowane defektem transportu aksonalnego	= en
cs	Congenital myasthenic syndrome due to defective axonal transport	= en

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	618198	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

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
MYO9A	Disease-causing germline mutation(s) in	Assessed	HGNC:7608	ENSG00000066933	604875	15q23	myosin IXA	27259756[PMID]

0 records

No prevalence record in this release.

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