- Peripheral axonal neuropathy (HP:0003477): An abnormality characterized by disruption of the normal functioning of peripheral axons. Evidence: PCS. Frequency: 10/11. (PMID:30298599)
- Hepatic steatosis (HP:0001397): Steatosis is a term used to denote lipid accumulation within hepatocytes. Evidence: PCS. Frequency: 4/11. (PMID:30298599)
- EMG: chronic denervation signs (HP:0003444): Evidence of chronic denervation on electromyography. Evidence: IEA. (PMID:30298599)
- Hyporeflexia (HP:0001265): Reduction of neurologic reflexes such as the knee-jerk reaction. Evidence: IEA. (OMIM:618400)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: IEA. (OMIM:618400)
- 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: IEA. (OMIM:618400)
- Ulnar claw (HP:0001178): An abnormal hand position characterized by hyperextension of the fourth and fifth fingers at the metacarpophalangeal joints and flexion of the interphalangeal joints of the same fingers such that they are curled towards the palm. Evidence: PCS. (PMID:30298599)
- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: IEA. (OMIM:618400)
- 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: IEA. (OMIM:618400)
- Distal amyotrophy (HP:0003693): Muscular atrophy affecting muscles in the distal portions of the extremities. Evidence: PCS. (PMID:30298599)
- Impaired distal tactile sensation (HP:0006937): A reduced sense of touch (tactile sensation) on the skin of the distal limbs. This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus. Evidence: IEA. (PMID:30298599)
- Distal muscle weakness (HP:0002460): Reduced strength of the musculature of the distal extremities. Evidence: PCS. Onset: Young adult onset (HP:0011462). (PMID:30298599)
- Areflexia (HP:0001284): Absence of neurologic reflexes such as the knee-jerk reaction. Evidence: IEA. (OMIM:618400)
- Increased CSF lactate (HP:0002490): Increased concentration of lactate in the cerebrospinal fluid. Evidence: IEA. Frequency: Very rare (HP:0040284). (OMIM:618400)
- Mildly elevated creatine kinase (HP:0008180). Evidence: PCS. (PMID:30298599)
- Decreased distal sensory nerve action potential (HP:0007230): A reduction in the amplitude of sensory nerve action potential in distal nerve segments. This feature is measured by nerve conduction studies. Evidence: PCS. (PMID:30298599)
- Foot dorsiflexor weakness (HP:0009027): Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles. Evidence: IEA. (OMIM:618400)
- 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:30298599)
- Elevated circulating hepatic transaminase concentration (HP:0002910): Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage. Evidence: IEA. (OMIM:618400)
- Hammertoe (HP:0001765): Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint. Evidence: IEA. (OMIM:618400)
These phenotypes are associated with the disease Charcot-Marie-Tooth disease, axonal, type 2EE (OMIM:618400).