The two major symptoms of<unk>  are pili torti and sensorineural hearing impairment. These two symptoms typically appear before the age of 2 and are present in 80-99% of individuals with<unk> . Approximately 5-29% of individuals also experience intellectual disabilities and hypogonadism. Cases showing lack of hair pigmentation and anhidrosis have also been documented. Pili torti is a hair abnormality characterized by twisted hair shafts. In<unk>  patients, the hair usually appears dry, fragile, coarse, and is easily broken. In some patients, hair abnormalities only affect hair on the head, although cases affecting eyebrows, eyelashes, and hair on other parts of the body have been documented. Weakening of the hair associated with pili torti also causes alopecia in approximately 80% of patients. The severity of hearing loss associated with<unk>  varies. Some individuals are unable to hear sounds at certain frequencies, while others are completely deaf. Their hearing loss is caused by tissue damage of the inner ear.
Björnstad syndrome
Swyer–James syndrome
Njølstad syndrome
Mohr–Tranebjærg syndrome
Bogart–Bacall syndrome
Sensenbrenner syndrome
SUNCT syndrome
Hoyeraal–Hreidarsson syndrome