ORPHA:716742

Congenital myasthenic syndrome with kinetic defect

Synonyms: CMS with kinetic defect · Kinetic abnormalities of the AChR

Orphadata ships no English definition for this code.

Names in Orphadata languages

9 of 12 languages

Lang	Name	Synonyms
en	Congenital myasthenic syndrome with kinetic defect	CMS with kinetic defect · Kinetic abnormalities of the AChR
fr	Syndrome myasthénique congénital avec annomalie cinétique	Anomalie cinétique du RACh · SMC avec anomalie cinétique
de	Kongenitales myasthenes Syndrom mit kinetischem Defekt	CMS mit kinetischem Defekt · Myasthenie-Syndrom durch kinetische Anomalien des Acetylcholinrezeptors
es	Síndrome miasténico congénito con defecto cinético	Anomalías cinéticas de AChR · SMC con defecto cinético
it	Sindrome miastenica congenita con difetto cinetico	CMS con difetto cinetico · SCM con difetto cinetico · Anomalie cinetiche di AChR
nl	Congenitaal myastheen syndroom met kinetisch defect	CMS met kinetisch defect · Kinetische afwijking van AChR
pt	Congenital myasthenic syndromes with kinetic defect
pl	Wrodzone zespoły miasteniczne z defektem kinetycznym	= en
cs	Congenital myasthenic syndrome with kinetic defect	= en

qualifier = Orphanet mapping relation

Source	Code	Qualifier	Validation
OMIM	601462	BTNT	validated
OMIM	605809	BTNT	validated
OMIM	608930	BTNT	validated
OMIM	616313	BTNT	validated
OMIM	616321	BTNT	validated
OMIM	616322	BTNT	validated
OMIM	616324	BTNT	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:98913Postsynaptic congenital myasthenic syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases; rare ophthalmic disorders

Children (3):

0 direct

Orphanet records no gene directly on this code.

0 records

No prevalence record in this release.

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