Phenotypes associated with the disease amyotrophic lateral sclerosis type 16 (OMIM:614373):
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 6/6. (PMID:21842496)
- Lower limb muscle weakness (HP:0007340): Weakness of the muscles of the legs. Evidence: PCS. Frequency: 6/6. Onset: Childhood onset (HP:0011463). (PMID:21842496)
- Amyotrophic lateral sclerosis (HP:0007354). Evidence: PCS. (PMID:21842496)
- Lower limb spasticity (HP:0002061): Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis. Evidence: PCS. Frequency: 6/6. Onset: Childhood onset (HP:0011463). (PMID:21842496)
- Weakness of the intrinsic hand muscles (HP:0009005). Evidence: PCS. Frequency: 6/6. Onset: Juvenile onset (HP:0003621). (PMID:21842496)
- 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: PCS. (PMID:21842496)
- Loss of ambulation (HP:0002505): Inability to walk in a person who previous had the ability to walk. Evidence: PCS. Frequency: 2/6. Onset: Young adult onset (HP:0011462). (PMID:21842496)
- Slowly progressive (HP:0003677): Applies to a disease manifestation that only slowly increases in scope or severity over the course of time. Evidence: PCS. (PMID:21842496)
- Hyperreflexia (HP:0001347): Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles. Evidence: PCS. Frequency: 6/6. (PMID:21842496)