Disease #00149 (CMS (Congenital Myasthenic Syndrome), OMIM:254210)

Official abbreviation CMS
Name Congenital Myasthenic Syndrome
OMIM ID 254210
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene CHAT
Associated tissues -
Disease features -
Remarks -


Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00000768 Joo-San Tan et al.(2016) M Sabah Kadazandusun - - - CMS ptosis, intermittent “squint,” and subsequently limb muscle weakness on exertion CHAT CHAT 2 2 Nur Aisyah Athirah
00000769 Joo-San Tan et al.(2016) M Sabah Kadazandusun - - - CMS ptosis, intermittent “squint,” and subsequently limb muscle weakness on exertion CHAT CHAT 2 1 Nur Aisyah Athirah
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