- Diarrhea (HP:0002014, a Human Phenotype Ontology term): Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day. Evidence: PCS. Frequency: 1/3. (PMID:14976160)
- Hand tremor (HP:0002378, a Human Phenotype Ontology term): An unintentional, oscillating to-and-fro muscle movement affecting the hand. Evidence: PCS. Frequency: 1/3. (PMID:14976160)
- Juvenile onset (HP:0003621, a Human Phenotype Ontology term): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 2/3. (PMID:14976160)
- Anhidrosis (HP:0000970, a Human Phenotype Ontology term): Inability to sweat. Evidence: PCS. Frequency: 0/3. (PMID:14976160)
- Mild intellectual disability (HP:0001256, a Human Phenotype Ontology term): Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:608654)
- Painless fractures due to injury (HP:0002661, a Human Phenotype Ontology term): An increased tendency to fractures following trauma, with fractures occurring without pain. Evidence: PCS. Frequency: 3/3. (PMID:14976160)
- Impaired vibratory sensation (HP:0002495, a Human Phenotype Ontology term): A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient. Evidence: PCS. Frequency: 1/3. (PMID:14976160)
- Impaired temperature sensation (HP:0010829, a Human Phenotype Ontology term): A reduced ability to discriminate between different temperatures. Evidence: PCS. Frequency: 1/3. (PMID:14976160)
- Urinary incontinence (HP:0000020, a Human Phenotype Ontology term): Loss of the ability to control the urinary bladder leading to involuntary urination. Evidence: PCS. Frequency: 1/3. (PMID:14976160)
- Infantile onset (HP:0003593, a Human Phenotype Ontology term): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: IEA. (OMIM:608654)
- Arthropathy (HP:0003040, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 1/3. (PMID:14976160)
- Septic arthritis (HP:0003095, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 1/3. (PMID:14976160)
- Childhood onset (HP:0011463, a Human Phenotype Ontology term): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/3. (PMID:14976160)
- Pain insensitivity (HP:0007021, a Human Phenotype Ontology term): Inability to perceive painful stimuli. Evidence: PCS. Frequency: 3/3. (PMID:14976160)
- Acral ulceration (HP:0006121, a Human Phenotype Ontology term): 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: PCS. (PMID:3472625)
- Low back pain (HP:0003419, a Human Phenotype Ontology term): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the lower back. Evidence: PCS. Frequency: 1/3. (PMID:14976160)
- Peripheral neuropathy (HP:0009830, a Human Phenotype Ontology term): Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course. Evidence: PCS. Frequency: 3/3. (PMID:14976160)
- Autosomal recessive inheritance (HP:0000007, 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 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:14976160)
- Recurrent fever (HP:0001954, a Human Phenotype Ontology term): Periodic (episodic or recurrent) bouts of fever. Evidence: IEA. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (OMIM:608654)
- Recurrent fractures (HP:0002757, a Human Phenotype Ontology term): The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture). Evidence: PCS. Frequency: 1/3. (PMID:14976160)
- Osteoarthritis (HP:0002758, a Human Phenotype Ontology term): Degeneration (wear and tear) of articular cartilage, i.e., of the joint surface. Joint degeneration may be accompanied by osteophytes (bone overgrowth), narrowing of the joint space, regions of sclerosis at the joint surface, or joint deformity. Evidence: PCS. Frequency: 1/3. (PMID:14976160)
- Constipation (HP:0002019, a Human Phenotype Ontology term): Infrequent or difficult evacuation of feces. Evidence: PCS. Frequency: 1/3. (PMID:14976160)
- Impaired pain sensation (HP:0007328, a Human Phenotype Ontology term): Reduced ability to perceive painful stimuli. Evidence: PCS. Frequency: 3/3. (PMID:14976160)
- Osteomyelitis (HP:0002754, a Human Phenotype Ontology term): Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism. Evidence: PCS. (PMID:14976160)
These phenotypes are associated with the disease hereditary sensory and autonomic neuropathy type 5 (OMIM:608654, an entry in Online Mendelian Inheritance in Man).