Disease #00737 (CMS16 (myasthenic syndrome, congenital, type 16, acetazolamide-responsive (CMS-16)), OMIM:614198)
Official abbreviation |
CMS16 |
Name |
myasthenic syndrome, congenital, type 16, acetazolamide-responsive (CMS-16) |
OMIM ID |
614198 |
Human Phenotype Ontology Project (HPO) |
HPO |
Inheritance |
Autosomal recessive |
Individuals reported having this disease |
0 |
Phenotype entries for this disease |
0 |
Associated with 1 gene |
SCN4A |
Associated tissues |
- |
Disease features |
- |
Remarks |
- |
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