- Hyporeflexia (HP:0001265): Reduction of neurologic reflexes such as the knee-jerk reaction. Evidence: TAS. Frequency: 0/7. (OMIM:243000)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 15/15. (PMID:17167479;PMID:17470132)
- Paresthesia (HP:0003401): Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause. Evidence: PCS. Frequency: 0/9. (PMID:17470132)
- Painless fractures due to injury (HP:0002661): An increased tendency to fractures following trauma, with fractures occurring without pain. Evidence: PCS. (PMID:17167479)
- Anhidrosis (HP:0000970): Inability to sweat. Evidence: TAS. (OMIM:243000)
- Urinary incontinence (HP:0000020): Loss of the ability to control the urinary bladder leading to involuntary urination. Evidence: TAS. (OMIM:243000)
- Impaired temperature sensation (HP:0010829): A reduced ability to discriminate between different temperatures. Evidence: PCS. Frequency: 0/9. (PMID:17470132)
- Impaired tactile sensation (HP:0010830): A reduced sense of touch (tactile sensation). 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: 0/9. (PMID:17470132)
- Impaired proprioception (HP:0010831): A loss or impairment of the sensation of the relative position of parts of the body and joint position. Evidence: PCS. Frequency: 0/9. (PMID:17470132)
- Abnormal autonomic nervous system physiology (HP:0012332): A functional abnormality of the autonomic nervous system. Evidence: PCS. Frequency: 0/9. (PMID:17470132)
- Pain insensitivity (HP:0007021): Inability to perceive painful stimuli. Evidence: PCS. Frequency: 15/15. (PMID:17167479;PMID:17470132)
- 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:17167479)
- Anosmia (HP:0000458): An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell. Evidence: TAS. (OMIM:243000)
- Hyposmia (HP:0004409): A decreased sensitivity to odorants (that is, a decreased ability to perceive odors). Evidence: TAS. (OMIM:243000)
- Hypohidrosis (HP:0000966): Abnormally diminished capacity to sweat. Evidence: TAS. (OMIM:243000)
- Abnormal nerve conduction velocity (HP:0040129). Evidence: PCS. Frequency: 0/6. (PMID:17470132)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: PCS. Frequency: 0/9. (PMID:17470132)
These phenotypes are associated with the disease channelopathy-associated congenital insensitivity to pain, autosomal recessive (OMIM:243000).