- Skeletal muscle atrophy (HP:0003202): The presence of skeletal muscular atrophy (which is also known as amyotrophy). Evidence: IEA. (OMIM:253550)
- Hand tremor (HP:0002378): An unintentional, oscillating to-and-fro muscle movement affecting the hand. Evidence: IEA. (OMIM:253550)
- Degeneration of anterior horn cells (HP:0002398). Evidence: IEA. (OMIM:253550)
- 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:253550)
- Tongue fasciculations (HP:0001308): Fasciculations or fibrillation affecting the tongue muscle. Evidence: IEA. (OMIM:253550)
- Spinal muscular atrophy (HP:0007269): Muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem. Evidence: IEA. (OMIM:253550)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: IEA. (OMIM:253550)
- Recurrent respiratory infections (HP:0002205): An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. Evidence: IEA. (OMIM:253550)
- EMG abnormality (HP:0003457): Abnormal results of investigations using electromyography (EMG). Evidence: IEA. (OMIM:253550)
These phenotypes are associated with the disease spinal muscular atrophy, type II (OMIM:253550).