Disease #04583

Official abbreviation CMS-9
Name myasthenic syndrome, congenital, type 9, associated with acetylcholine receptor deficiency (CMS-9)
OMIM ID 616325
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene MUSK
Associated tissues -
Disease features autosomal recessive
Remarks -


Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00132656 Case 1 Owen, submitted - M ? India Labbay sect - 0 - - CMS-9 - - MUSK 1 1 Ana Topf
00132658 Case 2 Owen, submitted - M no India - - 0 - - CMS-9 - - MUSK 1 1 Ana Topf
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