- Facial palsy (HP:0010628): Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form. Evidence: TAS. (OMIM:601596)
- Decreased motor nerve conduction velocity (HP:0003431): A type of decreased nerve conduction velocity that affects the motor neuron. Evidence: IEA. (OMIM:601596)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: PCS. Frequency: 2/18. (PMID:14574644)
- Delayed brainstem auditory evoked response conduction time (HP:0004466): An abnormal increase (delay) in the conduction time of the brainstem auditory-evoked response. Evidence: IEA. (OMIM:601596)
- Distal amyotrophy (HP:0003693): Muscular atrophy affecting muscles in the distal portions of the extremities. Evidence: PCS. Frequency: 15/18. (PMID:14574644)
- Distal muscle weakness (HP:0002460): Reduced strength of the musculature of the distal extremities. Evidence: PCS. Frequency: 18/18. (PMID:14574644)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 7/17. (PMID:14574644)
- Motor delay (HP:0001270): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: IEA. (OMIM:601596)
- Abnormal cranial nerve morphology (HP:0001291): Structural abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem. Evidence: IEA. (OMIM:601596)
- Tongue atrophy (HP:0012473): Wasting of the tongue. Evidence: TAS. (OMIM:601596)
- Nystagmus (HP:0000639): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: PCS. Frequency: 1/18. (PMID:14574644)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 2/17. (PMID:14574644)
- Axonal degeneration (HP:0040078). Evidence: IEA. (OMIM:601596)
- Distal sensory impairment (HP:0002936): An abnormal reduction in sensation in the distal portions of the extremities. Evidence: PCS. Frequency: 18/18. (PMID:14574644)
- Tongue fasciculations (HP:0001308): Fasciculations or fibrillation affecting the tongue muscle. Evidence: TAS. (OMIM:601596)
- Proximal muscle weakness (HP:0003701): A lack of strength of the proximal muscles. Evidence: PCS. Frequency: 9/18. (PMID:14574644)
- Segmental peripheral demyelination (HP:0007107): A loss of myelin from the internode regions along myelinated nerve fibers from segments of the peripheral nervous system. Evidence: IEA. (OMIM:601596)
- Hammertoe (HP:0001765): Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint. Evidence: PCS. Frequency: 9/18. (PMID:14574644)
- Basal lamina onion bulb formation (HP:0003400): A type of onion bulb formation prominently affecting the area of the basal lamina. Evidence: IEA. (OMIM:601596)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 8/17. (PMID:14574644)
- Decreased number of large peripheral myelinated nerve fibers (HP:0003387): A reduced number of large myelinated nerve fibers. Evidence: IEA. (OMIM:601596)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 11/18. (PMID:14574644)
- Talipes equinovarus (HP:0001762): Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Evidence: PCS. Frequency: 5/18. (PMID:14574644)
- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: IEA. (OMIM:601596)
- 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: PCS. Frequency: 9/18. (PMID:14574644)
- Upper limb muscle weakness (HP:0003484): Weakness of the muscles of the arms. Evidence: TAS. (OMIM:601596)
- Greater auricular nerve thickening (HP:0034347): Increase in thickness of the great auricular nerve, a cutaneous nerve of the head. It originates from the cervical plexus, with branches of spinal nerves C2 and C3. Thickening may lead to the nerve being palpable or even visible in this region. Evidence: PCS. Frequency: 1/18. (PMID:14574644)
- Abnormal pupillary light reflex (HP:0007695): An abnormality of the reflex that controls the diameter of the pupil, in response to the intensity of light that falls on the retina of the eye. Evidence: IEA. (OMIM:601596)
- 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:14574644)
- Peripheral axonal degeneration (HP:0000764): Progressive deterioration of peripheral axons. Evidence: TAS. (OMIM:601596)
These phenotypes are associated with the disease Charcot-Marie-Tooth disease type 4C (OMIM:601596).