Phenotypes associated with the disease Charcot-Marie-Tooth disease dominant intermediate B (OMIM:606482):
- Hyporeflexia (HP:0001265): Reduction of neurologic reflexes such as the knee-jerk reaction. Evidence: IEA. (OMIM:606482)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: IEA. (OMIM:606482)
- 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:606482)
- Distal amyotrophy (HP:0003693): Muscular atrophy affecting muscles in the distal portions of the extremities. Evidence: TAS. Frequency: 20/20. (OMIM:606482)
- Onion bulb formation (HP:0003383): Repeated episodes of segmental demyelination and remyelination lead to the accumulation of supernumerary Schwann cells around axons, which is referred to as onion bulb formation. This finding affects peripheral nerves. Evidence: IEA. (OMIM:606482)
- Areflexia (HP:0001284): Absence of neurologic reflexes such as the knee-jerk reaction. Evidence: IEA. (OMIM:606482)
- Distal muscle weakness (HP:0002460): Reduced strength of the musculature of the distal extremities. Evidence: TAS. Frequency: 20/20. (OMIM:606482)
- Segmental peripheral demyelination/remyelination (HP:0003481): A segmental pattern of demyelination and regeneration (remyelination) affecting peripheral nerves. Evidence: IEA. (OMIM:606482)
- Decreased number of peripheral myelinated nerve fibers (HP:0003380): A loss of myelinated nerve fibers in the peripheral nervous system (in general, this finding can be observed on nerve biopsy). Evidence: IEA. (OMIM:606482)
- Axonal degeneration (HP:0040078). Evidence: TAS. (OMIM:606482)
- Distal sensory impairment (HP:0002936): An abnormal reduction in sensation in the distal portions of the extremities. Evidence: IEA. (OMIM:606482)
- Autosomal dominant inheritance (HP:0000006): 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: IEA. (OMIM:606482)
- 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: TAS. Frequency: Occasional (HP:0040283). (OMIM:606482)
- Peripheral axonal degeneration (HP:0000764): Progressive deterioration of peripheral axons. Evidence: IEA. (OMIM:606482)