- Hyporeflexia (HP:0001265, a Human Phenotype Ontology term): Reduction of neurologic reflexes such as the knee-jerk reaction. Evidence: IEA. (OMIM:601472)
- Scoliosis (HP:0002650, a Human Phenotype Ontology term): The presence of an abnormal lateral curvature of the spine. Evidence: IEA. (OMIM:601472)
- Pes cavus (HP:0001761, a Human Phenotype Ontology term): 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:601472)
- Distal amyotrophy (HP:0003693, a Human Phenotype Ontology term): Muscular atrophy affecting muscles in the distal portions of the extremities. Evidence: TAS. Frequency: 20/20. (OMIM:601472)
- Upper limb muscle weakness (HP:0003484, a Human Phenotype Ontology term): Weakness of the muscles of the arms. Evidence: TAS. (OMIM:601472)
- Distal muscle weakness (HP:0002460, a Human Phenotype Ontology term): Reduced strength of the musculature of the distal extremities. Evidence: IEA. (OMIM:601472)
- First dorsal interossei muscle weakness (HP:0003392, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:601472)
- Thenar muscle atrophy (HP:0003393, a Human Phenotype Ontology term): Wasting of thenar muscles, which are located on palm of the hand at the base of the thumb. Evidence: IEA. (OMIM:601472)
- Postural instability (HP:0002172, a Human Phenotype Ontology term): A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps. Evidence: IEA. (OMIM:601472)
- Young adult onset (HP:0011462, a Human Phenotype Ontology term): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. (PMID:12690580)
- Distal sensory impairment (HP:0002936, a Human Phenotype Ontology term): An abnormal reduction in sensation in the distal portions of the extremities. Evidence: IEA. (OMIM:601472)
- First dorsal interossei muscle atrophy (HP:0003426, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:601472)
- Thenar muscle weakness (HP:0003427, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:601472)
- Upper limb amyotrophy (HP:0009129, a Human Phenotype Ontology term): Muscular atrophy involving the muscles of the upper limbs. Evidence: TAS. (OMIM:601472)
- Autosomal dominant inheritance (HP:0000006, a Human Phenotype Ontology term): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:12690580)
- Cold-induced hand cramps (HP:0003435, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:601472)
- Slowly progressive (HP:0003677, a Human Phenotype Ontology term): Applies to a disease manifestation that only slowly increases in scope or severity over the course of time. Evidence: IEA. (OMIM:601472)
- Hammertoe (HP:0001765, a Human Phenotype Ontology term): Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint. Evidence: IEA. (OMIM:601472)
These phenotypes are associated with the disease Charcot-Marie-Tooth disease type 2D (OMIM:601472, an entry in Online Mendelian Inheritance in Man).