- Neurogenic bladder (HP:0000011): A type of bladder dysfunction caused by neurologic damage. Neurogenic bladder can be flaccid or spastic. Common manifestatios of neurogenic bladder are overflow incontinence, frequency, urgency, urge incontinence, and retention. Evidence: IEA. (OMIM:263570)
- Peripheral axonal neuropathy (HP:0003477): An abnormality characterized by disruption of the normal functioning of peripheral axons. Evidence: TAS. (OMIM:263570)
- Paresthesia (HP:0003401): Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause. Evidence: PCS. Frequency: 5/7. (PMID:9851430)
- Orthostatic hypotension (HP:0001278): A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position. Evidence: TAS. Frequency: Occasional (HP:0040283). (OMIM:263570)
- 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: 7/7. (PMID:9851430)
- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: PCS. Frequency: 7/7. (PMID:9851430)
- Muscle spasm (HP:0003394): Sudden and involuntary contractions of one or more muscles. Evidence: PCS. Frequency: 1/7. (PMID:9851430)
- Urinary incontinence (HP:0000020): Loss of the ability to control the urinary bladder leading to involuntary urination. Evidence: PCS. Frequency: 7/7. (PMID:9851430)
- Tetraparesis (HP:0002273): Weakness of all four limbs. Evidence: TAS. (OMIM:263570)
- Cognitive impairment (HP:0100543): Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering. Evidence: PCS. Frequency: 7/7. (PMID:9851430)
- 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:9851430)
- Distal sensory impairment (HP:0002936): An abnormal reduction in sensation in the distal portions of the extremities. Evidence: PCS. Frequency: 7/7. (PMID:9851430)
- Increased CSF protein concentration (HP:0002922): Increased concentration of protein in the cerebrospinal fluid. Evidence: PCS. Frequency: 2/7. (PMID:9851430)
- Spastic paraplegia (HP:0001258): Complete loss of the ability to move the lower limbs accompanied by spasticity of the lower limbs. Evidence: PCS. Frequency: 7/7. (PMID:9851430)
- Absent Achilles reflex (HP:0003438): Absence of the Achilles reflex (also known as the ankle jerk reflex), which can normally be elicited by tapping the tendon is tapped while the foot is dorsiflexed. Evidence: PCS. Frequency: 6/7. (PMID:9851430)
- Abnormal cerebral white matter morphology (HP:0002500): An abnormality of the cerebral white matter. Evidence: IEA. (OMIM:263570)
- Slowly progressive (HP:0003677): Applies to a disease manifestation that only slowly increases in scope or severity over the course of time. Evidence: IEA. (OMIM:263570)
- Abnormal upper motor neuron morphology (HP:0002127): Any structural anomaly that affects the upper motor neuron. Evidence: IEA. (OMIM:263570)
These phenotypes are associated with the disease adult polyglucosan body disease (OMIM:263570).