DCAF17

Graph and Chart

Patient Overview : 7

General

Frequency of all clinical findings

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