- Skeletal muscle atrophy (HP:0003202): The presence of skeletal muscular atrophy (which is also known as amyotrophy). Evidence: PCS. Frequency: 1/3. (PMID:26945885)
- Dysphagia (HP:0002015): Difficulty in swallowing. Evidence: PCS. Frequency: 2/3. (PMID:26945885)
- Middle age onset (HP:0003596): A type of adult onset with onset of symptoms at the age of 40 to 60 years. Evidence: PCS. Frequency: 2/3. (PMID:26945885)
- Caudate atrophy (HP:0002340). Evidence: PCS. Frequency: 1/3. (PMID:26945885)
- Bulbar signs (HP:0002483). Evidence: PCS. Frequency: 1/3. (PMID:26945885)
- Late onset (HP:0003584): A type of adult onset with onset of symptoms after the age of 60 years. Evidence: PCS. Frequency: 1/3. (PMID:26945885)
- Dysarthria (HP:0001260): Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed. Evidence: PCS. Frequency: 2/3. (PMID:26945885)
- Tetraparesis (HP:0002273): Weakness of all four limbs. Evidence: PCS. Frequency: 1/3. (PMID:26945885)
- Hippocampal atrophy (HP:0410170): Partial or complete wasting (loss) of hippocampus tissue that was once present. Evidence: PCS. Frequency: 1/3. (PMID:26945885)
- Respiratory insufficiency (HP:0002093). Evidence: PCS. Frequency: 2/3. (PMID:26945885)
- Amyotrophic lateral sclerosis (HP:0007354). Evidence: PCS. Frequency: 3/3. (PMID:26945885)
- Spasticity (HP:0001257): A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes. Evidence: PCS. Frequency: 1/3. (PMID:26945885)
- Autosomal dominant inheritance (HP:0000006): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:26945885)
- Hyperreflexia (HP:0001347): Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles. Evidence: PCS. Frequency: 3/3. (PMID:26945885)
These phenotypes are associated with the disease amyotrophic lateral sclerosis, susceptibility to, 24 (OMIM:617892).