- Fatigable weakness (HP:0003473): A type of weakness that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. Evidence: TAS. (OMIM:254190)
- Abnormality of metabolism/homeostasis (HP:0001939). Evidence: IEA. (OMIM:254190)
- Congenital ptosis (HP:0007970). Evidence: IEA. (OMIM:254190)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: IEA. (OMIM:254190)
- Proximal muscle weakness (HP:0003701): A lack of strength of the proximal muscles. Evidence: IEA. (OMIM:254190)
- External ophthalmoplegia (HP:0000544): Paralysis of the external ocular muscles. Evidence: IEA. (OMIM:254190)
These phenotypes are associated with the disease myasthenia, congenital, refractory to acetylcholinesterase inhibitors (OMIM:254190).