- Hyporeflexia (HP:0001265): Reduction of neurologic reflexes such as the knee-jerk reaction. Evidence: IEA. (OMIM:162400)
- Skeletal muscle atrophy (HP:0003202): The presence of skeletal muscular atrophy (which is also known as amyotrophy). Evidence: PCS. Frequency: 1/1. (PMID:23454272)
- Hand tremor (HP:0002378): An unintentional, oscillating to-and-fro muscle movement affecting the hand. Evidence: PCS. Frequency: 1/1. (PMID:23454272)
- Decreased number of large peripheral myelinated nerve fibers (HP:0003387): A reduced number of large myelinated nerve fibers. Evidence: IEA. (OMIM:162400)
- Decreased motor nerve conduction velocity (HP:0003431): A type of decreased nerve conduction velocity that affects the motor neuron. Evidence: PCS. Frequency: 1/1. (PMID:23454272)
- Impaired distal proprioception (HP:0006858): A loss or impairment of the sensation of the relative position of parts of the body and joint position occurring at distal joints. Evidence: IEA. Frequency: 1/1. (PMID:23454272)
- 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. (PMID:23454272)
- 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: PCS. Frequency: 1/1. (PMID:23454272)
- Areflexia (HP:0001284): Absence of neurologic reflexes such as the knee-jerk reaction. Evidence: TAS. (OMIM:162400)
- Distal muscle weakness (HP:0002460): Reduced strength of the musculature of the distal extremities. Evidence: PCS. Frequency: 1/1. (PMID:23454272)
- Cataract (HP:0000518): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: PCS. Frequency: 1/1. Onset: Juvenile onset (HP:0003621). (PMID:23454272)
- Sensorineural hearing impairment (HP:0000407): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: IEA. (OMIM:162400)
- Acral ulceration (HP:0006121): A type of digital ulcer that manifests as an open sore on the surface of the skin at the tip of a finger or toe. Evidence: TAS. (OMIM:162400)
- Distal sensory impairment (HP:0002936): An abnormal reduction in sensation in the distal portions of the extremities. Evidence: IEA. (OMIM:162400)
- Chronic axonal neuropathy (HP:0007267): An abnormality characterized by chronic impairment of the normal functioning of the axons. Evidence: IEA. (OMIM:162400)
- Distal sensory impairment of all modalities (HP:0003409): Reduced ability to sense pain, temperature, touch, vibration stimuli in the distal regions of the extremities. Evidence: TAS. (OMIM:162400)
- Tongue fasciculations (HP:0001308): Fasciculations or fibrillation affecting the tongue muscle. Evidence: PCS. Frequency: 1/1. (PMID:23454272)
- Autoamputation of foot (HP:0001868): The spontaneous detachment of a foot from the body due to long standing pathology. Evidence: IEA. (OMIM:162400)
- Decreased sensory nerve conduction velocity (HP:0003448): Reduced speed of conduction of the action potential along a sensory nerve. Evidence: IEA. (OMIM:162400)
- Frequent falls (HP:0002359). Evidence: PCS. Frequency: 1/1. (PMID:23454272)
- 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: PCS. (PMID:11242114)
- Foot osteomyelitis (HP:0001886): An infection of bone of the foot. Evidence: IEA. (OMIM:162400)
- Osteomyelitis (HP:0002754): Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism. Evidence: IEA. (OMIM:162400)
These phenotypes are associated with the disease neuropathy, hereditary sensory and autonomic, type 1A (OMIM:162400).