- Progressive cerebellar ataxia (HP:0002073). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:247815)
- Motor axonal neuropathy (HP:0007002): Progressive impairment of function of motor axons with muscle weakness, atrophy, and cramps. The deficits are length-dependent, meaning that muscles innervated by the longest nerves are affected first, so that for instance the arms are affected at a later age than the onset of deficits involving the lower leg. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:247815)
- Mild intellectual disability (HP:0001256): Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:247815)
- Dysarthria (HP:0001260): Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:247815)
- Limb ataxia (HP:0002070): A kind of ataxia that affects movements of the extremities. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:247815)
- Truncal ataxia (HP:0002078): Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:247815)
- Progressive gait ataxia (HP:0007240): A type of gait ataxia displaying progression of clinical severity. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:247815)
- Abnormal pyramidal sign (HP:0007256): Functional neurological abnormalities related to dysfunction of the pyramidal tract. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:247815)
- Impaired smooth pursuit (HP:0007772): An impairment of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:247815)
- Very long chain fatty acid accumulation (HP:0008167). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:247815)
- Abnormal circulating phytanic acid concentration (HP:0010965): Any deviation from the normal concentration of phytanic acid in the blood circulation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:247815)
- Diffuse cerebellar atrophy (HP:0100275): Diffuse unlocalised atrophy affecting the cerebellum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:247815)
- Hyperreflexia (HP:0001347): Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:247815)
- Abnormal head movements (HP:0002457). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:247815)
- Type II diabetes mellitus (HP:0005978): A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:247815)
- Mydriasis (HP:0011499): Abnormal dilatation of the iris. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:247815)
- 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: Very rare (HP:0040284). (ORPHA:247815)
These phenotypes are associated with the disease Autosomal recessive ataxia due to PEX10 deficiency (ORPHA:247815).
The following phenotypes are NOT associated with this disease:
- Oculomotor apraxia (HP:0000657): Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancelation of the vestibulo-ocular reflex. Evidence: TAS. (ORPHA:247815)
- Global developmental delay (HP:0001263): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: TAS. (ORPHA:247815)