- Congenital onset (HP:0003577, a Human Phenotype Ontology term): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 25/41. (PMID:20037588)
- Stridor (HP:0010307, a Human Phenotype Ontology term): Stridor is a high pitched sound resulting from turbulent air flow in the upper airway. Evidence: TAS. (OMIM:606071)
- Short stature (HP:0004322, a Human Phenotype Ontology term): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:606071)
- Proximal upper limb amyotrophy (HP:0008948, a Human Phenotype Ontology term): Muscular atrophy affecting proximally located muscles of the arms. Evidence: PCS. Frequency: 16/42. (PMID:20037588)
- Urinary incontinence (HP:0000020, a Human Phenotype Ontology term): Loss of the ability to control the urinary bladder leading to involuntary urination. Evidence: TAS. (OMIM:606071)
- Oculomotor nerve palsy (HP:0012246, a Human Phenotype Ontology term): Reduced ability to control the movement of the eye associated with damage to the third cranial nerve (the oculomotor nerve). Evidence: TAS. (OMIM:606071)
- Childhood onset (HP:0011463, a Human Phenotype Ontology term): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 10/41. (PMID:20037588)
- Young adult onset (HP:0011462, a Human Phenotype Ontology term): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 6/41. (PMID:20037588)
- Typified by incomplete penetrance (HP:0003829, a Human Phenotype Ontology term): Description of conditions in which not all individuals with a given genotype exhibit the disease. Penetrance is the proportion that develop disease given a lifespan of 80 years. Evidence: TAS. (OMIM:606071)
- Foot dorsiflexor weakness (HP:0009027, a Human Phenotype Ontology term): 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:606071)
- Distal sensory impairment (HP:0002936, a Human Phenotype Ontology term): An abnormal reduction in sensation in the distal portions of the extremities. Evidence: PCS. Frequency: 7/42. (PMID:20037588)
- Respiratory failure (HP:0002878, a Human Phenotype Ontology term): A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits. Evidence: TAS. (OMIM:606071)
- Vocal cord paresis (HP:0001604, a Human Phenotype Ontology term): Decreased strength of the vocal folds. Evidence: PCS. Frequency: 11/42. (PMID:20037588)
- Distal upper limb amyotrophy (HP:0007149, a Human Phenotype Ontology term): Muscular atrophy of distal arm muscles. Evidence: PCS. Frequency: 14/42. (PMID:20037588)
- Shoulder girdle muscle atrophy (HP:0003724, a Human Phenotype Ontology term): Amyotrophy affecting the muscles of the shoulder girdle. Evidence: IEA. (OMIM:606071)
- Intercostal muscle weakness (HP:0004878, a Human Phenotype Ontology term): Lack of strength of the intercostal muscles, i.e., of the muscle groups running along the ribs that create and move the chest wall. Evidence: IEA. (OMIM:606071)
- Down-sloping shoulders (HP:0200021, a Human Phenotype Ontology term): Low set, steeply sloping shoulders. Evidence: TAS. (OMIM:606071)
- Abducens palsy (HP:0006897, a Human Phenotype Ontology term): Malfunction of the abducens nerve as manifested by impairment of the ability of the affected eye to be moved outward. Patients who develop abducens nerve palsy often present with binocular horizontal diplopia, which is a double vision when looking at objects side by side. There will be a notable weakness of the ipsilateral lateral rectus muscle leading to a deficit in of eye abduction on the affected side. Some patients may present with a constant head turning movement to maintain binocular fusion and to lessen the degree of diplopia. Evidence: TAS. (OMIM:606071)
- Proximal upper limb muscle weakness (HP:0008997, a Human Phenotype Ontology term): A lack of strength of the proximal muscles of the arms. Evidence: PCS. Frequency: 16/42. (PMID:20037588)
- Hammertoe (HP:0001765, a Human Phenotype Ontology term): Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint. Evidence: TAS. (OMIM:606071)
- Hyporeflexia (HP:0001265, a Human Phenotype Ontology term): Reduction of neurologic reflexes such as the knee-jerk reaction. Evidence: IEA. (OMIM:606071)
- Scoliosis (HP:0002650, a Human Phenotype Ontology term): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. Frequency: 26/40. (OMIM:606071)
- Obstructive sleep apnea (HP:0002870, a Human Phenotype Ontology term): Obstructive Sleep Apnea is a condition characterized by the obstruction of the airway and pauses in breathing during sleep, which occur multiple times throughout the night. It is related to the relaxation of muscle tone that typically happens during sleep, leading to a partial collapse of the soft tissues in the airway and causing airflow obstruction. Evidence: IEA. (OMIM:606071)
- Urinary urgency (HP:0000012, a Human Phenotype Ontology term): Urge incontinence is the strong, sudden need to urinate. Evidence: TAS. (OMIM:606071)
- 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:606071)
- Distal upper limb muscle weakness (HP:0008959, a Human Phenotype Ontology term): Reduced strength of the distal musculature of the arms. Evidence: PCS. Frequency: 14/42. (PMID:20037588)
- Areflexia (HP:0001284, a Human Phenotype Ontology term): Absence of neurologic reflexes such as the knee-jerk reaction. Evidence: PCS. Frequency: 40/42. (PMID:20037588)
- Hand muscle atrophy (HP:0009130, a Human Phenotype Ontology term): Muscular atrophy involving the muscles of the hand. Evidence: TAS. (OMIM:606071)
- Distal lower limb muscle weakness (HP:0009053, a Human Phenotype Ontology term): Reduced strength of the distal musculature of the legs. Evidence: PCS. Frequency: 39/42. (PMID:20037588)
- Sensorineural hearing impairment (HP:0000407, a Human Phenotype Ontology term): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: TAS. (OMIM:606071)
- Decreased distal sensory nerve action potential (HP:0007230, a Human Phenotype Ontology term): A reduction in the amplitude of sensory nerve action potential in distal nerve segments. This feature is measured by nerve conduction studies. Evidence: IEA. (OMIM:606071)
- Diaphragmatic weakness (HP:0009113, a Human Phenotype Ontology term): A decrease in the strength of the diaphragm. Evidence: TAS. (OMIM:606071)
- Sensory neuropathy (HP:0000763, a Human Phenotype Ontology term): Peripheral neuropathy affecting the sensory nerves. Evidence: IEA. (OMIM:606071)
- 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:20037588P)
- Distal lower limb amyotrophy (HP:0008944, a Human Phenotype Ontology term): Muscular atrophy of distal leg muscles. Evidence: PCS. Frequency: 39/42. (PMID:20037588)
These phenotypes are associated with the disease Charcot-Marie-Tooth disease axonal type 2C (OMIM:606071, an entry in Online Mendelian Inheritance in Man).