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.