- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 5/5. (PMID:32707086)
- Progressive (HP:0003676): Applies to a disease manifestation that increases in scope or severity over the course of time, i.e., that worsens with age. Evidence: PCS. Frequency: 5/5. (PMID:32707086)
- Paresthesia (HP:0003401): Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause. Evidence: PCS. Frequency: 1/5. (PMID:32707086)
- Dysphagia (HP:0002015): Difficulty in swallowing. Evidence: PCS. Frequency: 1/5. (PMID:32707086)
- Babinski sign (HP:0003487): Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract. Evidence: PCS. Frequency: 3/5. (PMID:32707086)
- Urinary urgency (HP:0000012): Urge incontinence is the strong, sudden need to urinate. Evidence: PCS. Frequency: 1/5. (PMID:32707086)
- Lower limb hyperreflexia (HP:0002395): Increased intensity of the a reflex in the leg. Evidence: PCS. Frequency: 5/5. (PMID:32707086)
- Gait ataxia (HP:0002066): A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall. Evidence: PCS. Frequency: 2/5. (PMID:32707086)
- Muscle spasm (HP:0003394): Sudden and involuntary contractions of one or more muscles. Evidence: PCS. Frequency: 3/5. (PMID:32707086)
- 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:32707086)
- Unsteady gait (HP:0002317). Evidence: PCS. Frequency: 5/5. Onset: Juvenile onset (HP:0003621). (PMID:32707086)
- Spastic paraplegia (HP:0001258): Complete loss of the ability to move the lower limbs accompanied by spasticity of the lower limbs. Evidence: PCS. Frequency: 5/5. Onset: Juvenile onset (HP:0003621). (PMID:32707086)
- Myalgia (HP:0003326): Pain in muscle. Evidence: PCS. Frequency: 1/5. (PMID:32707086)
These phenotypes are associated with the disease spastic paraplegia 83, autosomal recessive (OMIM:619027).