Disease #04314 (CMS2C (myasthenic syndrome, congenital, type 2C, associated with acetylcholine receptor deficiency (CMS-2C)), OMIM:616314)

Official abbreviation CMS2C
Name myasthenic syndrome, congenital, type 2C, associated with acetylcholine receptor deficiency (CMS-2C)
OMIM ID 616314
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene CHRNB1
Associated tissues -
Disease features -
Remarks -
Date created 2015-08-28 20:27:52 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

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00335954 175385 - - M ? Germany - - - - - CMS2C (+) Pierre-Robin sequence,(+) Abnormality of eye movement,(+) Ptosis,(+) Muscular hypotonia,(+) Global developmental delay,(+) Bilateral ptosis,(+) Bradycardia,(+) Dysphagia,(+) Poor suck,(+) Apnea,(+) Upper airway obstruction CHRNB1 CHRNB1 2 1 Andreas Laner
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