- Opacification of the corneal stroma (HP:0007759): Reduced transparency of the stroma of cornea. Evidence: IEA. (OMIM:256800)
- Poor wound healing (HP:0001058): A reduced ability to heal cutaneous wounds. Evidence: TAS. (OMIM:256800)
- Nail dysplasia (HP:0002164): The presence of developmental dysplasia of the nail. Evidence: IEA. (OMIM:256800)
- Corneal ulceration (HP:0012804): Disruption of the epithelial layer of the cornea with involvement of the underlying stroma. Evidence: TAS. (OMIM:256800)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: IEA. (OMIM:256800)
- Abnormal autonomic nervous system physiology (HP:0012332): A functional abnormality of the autonomic nervous system. Evidence: IEA. (OMIM:256800)
- Lichenification (HP:0100725): Thickening and hardening of the epidermis seen with exaggeration of normal skin lines. Evidence: IEA. (OMIM:256800)
- Autoamputation of digits (HP:0007460): The spontaneous detachment of a digit (finger or toe) from the body due to long standing pathology. Evidence: TAS. (OMIM:256800)
- Pain insensitivity (HP:0007021): Inability to perceive painful stimuli. Evidence: PCS. Frequency: 14/14. (OMIM:256800;PMID:8696348)
- Emotional lability (HP:0000712): Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or disproportionate to events and circumstances. Evidence: IEA. Frequency: Frequent (HP:0040282). (OMIM:256800)
- Abnormality of the immune system (HP:0002715): An abnormality of the immune system. Evidence: IEA. (OMIM:256800)
- Corneal scarring (HP:0000559). Evidence: IEA. (OMIM:256800)
- Hyperactivity (HP:0000752): Hyperactivity is a condition characterized by constant and unusually high levels of activity, even in situations where it is deemed inappropriate. Evidence: IEA. Frequency: Frequent (HP:0040282). (OMIM:256800)
- Postural hypotension with compensatory tachycardia (HP:0005307). Evidence: IEA. (OMIM:256800)
- Decreased number of small peripheral myelinated nerve fibers (HP:0007249). Evidence: IEA. (OMIM:256800)
- 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: 4/4. (PMID:8696348)
- Osteomyelitis (HP:0002754): Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism. Evidence: IEA. (OMIM:256800)
- Recurrent corneal erosions (HP:0000495): The presence of recurrent corneal epithelial erosions. Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations. Evidence: IEA. (OMIM:256800)
- Anhidrosis (HP:0000970): Inability to sweat. Evidence: PCS. Frequency: 4/4. (PMID:8696348)
- Keratitis (HP:0000491): Inflammation of the cornea. Evidence: IEA. (OMIM:256800)
- Global developmental delay (HP:0001263): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: IEA. (OMIM:256800)
- 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: IEA. (OMIM:256800)
- Sparse scalp hair (HP:0002209): Decreased number of hairs per unit area of skin of the scalp. Evidence: IEA. (OMIM:256800)
- Recurrent fever (HP:0001954): Periodic (episodic or recurrent) bouts of fever. Evidence: PCS. Frequency: 14/14. (OMIM:256800;PMID:8696348)
- 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:8696348)
- Neuropathic arthropathy (HP:0002821). Evidence: IEA. (OMIM:256800)
- Nail dystrophy (HP:0008404): Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate. Evidence: TAS. (OMIM:256800)
- Self-mutilation (HP:0000742): Deliberate harm to one's body resulting in tissue damage, without a conscious intent to die. Evidence: PCS. Frequency: 4/4. (PMID:8696348)
These phenotypes are associated with the disease hereditary sensory and autonomic neuropathy type 4 (OMIM:256800).