Phenotypes associated with the disease myopathy, granulovacuolar lobular, with electrical myotonia (OMIM:254950):
- Skeletal muscle atrophy (HP:0003202): The presence of skeletal muscular atrophy (which is also known as amyotrophy). Evidence: IEA. (OMIM:254950)
- Myotonia (HP:0002486): An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation. Evidence: IEA. (OMIM:254950)
- Abnormality of metabolism/homeostasis (HP:0001939). Evidence: IEA. (OMIM:254950)
- 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:254950)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: IEA. (OMIM:254950)