- Pes cavus (HP:0001761): An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:447757)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:447757)
- Postural tremor (HP:0002174): A type of tremors that is triggered by holding a limb in a fixed position. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:447757)
- Progressive neurologic deterioration (HP:0002344). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:447757)
- Spastic dysarthria (HP:0002464): A type of dysarthria related to bilateral damage of the upper motor neuron tracts of the pyramidal and extra- pyramidal tracts. Speech of affected individuals is slow, effortful, and has a harsh vocal quality. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:447757)
- Upper motor neuron dysfunction (HP:0002493): A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements. Dysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:447757)
- Loss of ambulation (HP:0002505): Inability to walk in a person who previous had the ability to walk. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:447757)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:447757)
- Hyperactive patellar reflex (HP:0007083). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:447757)
- Motor polyneuropathy (HP:0007178). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:447757)
- Progressive gait ataxia (HP:0007240): A type of gait ataxia displaying progression of clinical severity. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:447757)
- Upper limb hyperreflexia (HP:0007350): Increased intensity of the a reflex in the arm. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:447757)
- Developmental cataract (HP:0000519): A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:447757)
- Dementia (HP:0000726): A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:447757)
- Hypotonia (HP:0001252): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:447757)
- Gastroesophageal reflux (HP:0002020): A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:447757)
- Elbow flexion contracture (HP:0002987): An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:447757)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:447757)
- Peripheral axonal neuropathy (HP:0003477): An abnormality characterized by disruption of the normal functioning of peripheral axons. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:447757)
- Focal dystonia (HP:0004373): A type of dystonia that is localized to a specific part of the body. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:447757)
- Atrophy of the spinal cord (HP:0006827). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:447757)
These phenotypes are associated with the disease Autosomal dominant spastic paraplegia type 9B (ORPHA:447757).