- Abnormality of the dentition (HP:0000164): Any abnormality of the teeth. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:64752)
- Abnormality of the gingiva (HP:0000168): Any abnormality of the gingiva (also known as gums). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:64752)
- Malar flattening (HP:0000272): Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:64752)
- Deeply set eye (HP:0000490): An eye that is more deeply recessed into the plane of the face than is typical. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:64752)
- Anhidrosis (HP:0000970): Inability to sweat. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:64752)
- Poor wound healing (HP:0001058): A reduced ability to heal cutaneous wounds. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:64752)
- Mild intellectual disability (HP:0001256): 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: Frequent (HP:0040282). (ORPHA:64752)
- Painless fractures due to injury (HP:0002661): An increased tendency to fractures following trauma, with fractures occurring without pain. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:64752)
- Pain insensitivity (HP:0007021): Inability to perceive painful stimuli. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:64752)
- Decreased number of small peripheral myelinated nerve fibers (HP:0007249). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:64752)
- Impaired temperature sensation (HP:0010829): A reduced ability to discriminate between different temperatures. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:64752)
These phenotypes are associated with the disease Hereditary sensory and autonomic neuropathy type 5 (ORPHA:64752).