| Prevalence | Extremely rare; <100 cases reported worldwide |
| Inheritance | Autosomal recessive - requires two mutant alleles |
| Age of onset | Childhood to early adulthood |
| Ethnic distribution | Higher prevalence in Middle Eastern populations (consanguinity) |
| Sex distribution | Equal males and females |
| Common mutations | N145S, R325W, splice site mutations |
| Function | Involved in ubiquitination and protein degradation pathways |
| Pathogenesis | Loss of DCAF8 function leads to accumulation of yet-unidentified substrate proteins |
| Hypogonadism | Primary gonadal failure, delayed or absent puberty |
| Diabetes mellitus | Type 2 diabetes, insulin resistance |
| Hypothyroidism | Primary hypothyroidism in some cases |
| Growth hormone deficiency | Short stature in childhood |
| Databases | OMIMOrphanetClinicalTrialsPubMed |