DCAF17
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 57.1% | 4/7 |
| Female | 42.9% | 3/7 |
| Indifferent | 0% | 0/7 |
| Unknown | 0% | 0/7 |
| General | ||
| Birth Length abnormalities | 0% | 0/1 |
| Birth Weight abnormalities | 0% | 0/1 |
| Birth Head circumference abnormalities | 0% | 0/1 |
| Current Height abnormalities | 0% | 0/6 |
| Current Weight abnormalities | 0% | 0/6 |
| Current Head circumference abnormalities | 0% | 0/6 |
| Neurology | ||
| Neurological abnormalities | 71.4% | 5/7 |
| Dystonia | 42.9% | 3/7 |
| Blepharospasm | 14.3% | 1/7 |
| Peripheral neuropathy | 14.3% | 1/7 |
| Sensorineural hearing impairment | 14.3% | 1/7 |
| Brain abnormality | 14.3% | 1/7 |
| Abnormal cerebral white matter morphology | 14.3% | 1/7 |
| Visual and hearing impairments | ||
| Abnormal hearing | 71.4% | 5/7 |
| Hearing impairment | 42.9% | 3/7 |
| Abnormal auditory evoked potentials | 14.3% | 1/7 |
| Sensorineural hearing impairment | 14.3% | 1/7 |
| Abnormal vision | 28.6% | 2/7 |
| Abnormal visual electrophysiology | 14.3% | 1/7 |
| Retinopathy | 14.3% | 1/7 |
| Heart | ||
| Abnormality of the heart | 14.3% | 1/7 |
| Heart block | 14.3% | 1/7 |
| Myocardial infarction | 14.3% | 1/7 |
| Urogenital | ||
| Abnormality of the urogenital system | 57.1% | 4/7 |
| Labial hypoplasia | 28.6% | 2/7 |
| Azoospermia | 14.3% | 1/7 |
| Micropenis | 14.3% | 1/7 |
| Nephropathy | 14.3% | 1/7 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 100.0% | 7/7 |
| Alopecia | 100.0% | 7/7 |
| Absent axillary hair | 42.9% | 3/7 |
| Absent pubic hair | 42.9% | 3/7 |
| Absent eyebrow | 28.6% | 2/7 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 100.0% | 7/7 |
| Delayed puberty | 28.6% | 2/7 |
| Diabetes mellitus | 28.6% | 2/7 |
| Hypergonadotropic hypogonadism | 28.6% | 2/7 |
| Hypogonadism | 28.6% | 2/7 |
| Hypogonadotropic hypogonadism | 14.3% | 1/7 |
| Hypothyroidism | 14.3% | 1/7 |
| Primary amenorrhea | 14.3% | 1/7 |
| Type I diabetes mellitus | 14.3% | 1/7 |