DCAF17

Clinical Characteristics

Mutations in DCAF17 may cause the following health conditions:

  • Hypogonadism (diminished function of the gonads (testes or ovaries) resulting in decreased production of sex hormones)
  • Alopecia (baldness)
  • Deafness
  • Diabetes mellitus
  • Intellectual disability
  • Movement disorders
  • Distinct facial features (found in some patients), including:
    • Triangular face
    • Prominent ears
    • Prominent nasal root
    • Anodontia (congenital absence of all teeth)
  • Abnormal brain imaging
  • Abnormal laboratory findings, including decreased levels of hormones, such as testosterone, estradiol, and insulin-like growth factor 1.