- Peripheral axonal neuropathy (HP:0003477): An abnormality characterized by disruption of the normal functioning of peripheral axons. Evidence: PCS. (PMID:16333315)
- Abnormal foot morphology (HP:0001760): An abnormality of the skeleton of foot. Evidence: PCS. (PMID:16333315)
- Clonus (HP:0002169): A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch. Evidence: PCS. Frequency: 4/4. (PMID:16333315)
- Decreased motor nerve conduction velocity (HP:0003431): A type of decreased nerve conduction velocity that affects the motor neuron. Evidence: PCS. (PMID:16333315)
- 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: 4/4. (PMID:16333315)
- Atrophy of the spinal cord (HP:0006827). Evidence: PCS. Frequency: 2/2. (PMID:16333315)
- Distal amyotrophy (HP:0003693): Muscular atrophy affecting muscles in the distal portions of the extremities. Evidence: PCS. Frequency: 4/4. (PMID:16333315)
- Spastic gait (HP:0002064): Spasticity is manifested by increased stretch reflex which is intensified with movement velocity. This results in excessive and inappropriate muscle activation which can contribute to muscle hypertonia. Spastic gait is characterized by manifestations such as muscle hypertonia, stiff knee, and circumduction of the leg. Evidence: PCS. Frequency: 4/4. (PMID:16333315)
- 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. (PMID:16333315)
- Decreased circulating apolipoprotein B concentration (HP:0034075): The concentration of apolipoprotein B in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 2/2. (PMID:16333315)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 4/4. (PMID:16333315)
- Acral ulceration (HP:0006121): A type of digital ulcer that manifests as an open sore on the surface of the skin at the tip of a finger or toe. Evidence: PCS. (PMID:16333315)
- Decreased amplitude of sensory action potentials (HP:0007078): A reduction in the amplitude of sensory nerve action potential. This feature is measured by nerve conduction studies. Evidence: PCS. Frequency: 4/4. (PMID:16333315)
- Hypotriglyceridemia (HP:0012153): An decrease in the level of triglycerides in the blood. Evidence: PCS. Frequency: 2/2. (PMID:16333315)
- 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:16399879)
- Distal sensory impairment (HP:0002936): An abnormal reduction in sensation in the distal portions of the extremities. Evidence: PCS. (PMID:16333315)
- Distal sensory impairment of all modalities (HP:0003409): Reduced ability to sense pain, temperature, touch, vibration stimuli in the distal regions of the extremities. Evidence: PCS. Frequency: 4/4. (PMID:16333315)
- Spastic paraplegia (HP:0001258): Complete loss of the ability to move the lower limbs accompanied by spasticity of the lower limbs. Evidence: PCS. (PMID:16333315)
- Hyperreflexia (HP:0001347): Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles. Evidence: PCS. Frequency: 4/4. (PMID:16333315)
- Foot osteomyelitis (HP:0001886): An infection of bone of the foot. Evidence: PCS. Frequency: 1/4. (PMID:16333315)
These phenotypes are associated with the disease hereditary sensory and autonomic neuropathy with spastic paraplegia (OMIM:256840).