Disease #01948 (CMS10 (myasthenic syndrome, congenital, type 10 (CMS-10)), OMIM:254300)

Official abbreviation CMS10
Name myasthenic syndrome, congenital, type 10 (CMS-10)
OMIM ID 254300
Human Phenotype Ontology Project (HPO) HPO
Inheritance AR
Individuals reported having this disease 3
Phenotype entries for this disease 1
Associated with 1 gene DOK7
Associated tissues -
Disease features -
Remarks -


Individuals

3 entries on 1 page. Showing entries 1 - 3.
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00117928 patient 51 de Natera, 2017 - F no Spain - - 0 - - CMS10 Fatigable muscle weakness - DOK7 1 2 Ana Topf
00117929 patient 52 de Natera, 2017 - F no Spain - - 0 - - CMS10 - - DOK7 1 2 Ana Topf
00309729 - - - M - India - - - - - CMS10 - DOK7 DOK7 1 1 Anju Shukla
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