Disease #02444

Official abbreviation CMS-5;EAD
Name myasthenic syndrome, congenital, type 5 (CMS-5, endplate acetylcholinesterase deficiency (EAD))
OMIM ID 603034
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 3
Phenotype entries for this disease 3
Associated with 1 gene COLQ
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Disease features -
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Individuals

3 entries on 1 page. Showing entries 1 - 3.
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00080810 - Trujillano et al., submitted unaffected parents - - - - - 0 - - CMS-5;EAD Myasthenic syndrome, congenital, 5 (OMIM:603034) COLQ COLQ 1 1 Daniel Trujillano
00080906 - Trujillano et al., submitted no information from parents - - - - - 0 - - CMS-5;EAD Myasthenic syndrome, congenital, 5 (OMIM:603034) COLQ COLQ 1 1 Daniel Trujillano
00081045 - Trujillano et al., submitted unaffected parents - - - - - 0 - - CMS-5;EAD Myasthenic syndrome, congenital, 5 (OMIM:603034) COLQ COLQ 1 1 Daniel Trujillano
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