COPB1
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 0% | 0/6 |
| Female | 100.0% | 6/6 |
| Indifferent | 0% | 0/6 |
| Unknown | 0% | 0/6 |
| General | ||
| Birth Length abnormalities | 0% | 0/6 |
| Birth Weight abnormalities | 0% | 0/6 |
| Birth Head circumference abnormalities | 0% | 0/6 |
| Current Height abnormalities | 16.7% | 1/6 |
| < P3 : Short stature | 16.7% | 1/6 |
| Current Weight abnormalities | 100.0% | 6/6 |
| > P98 : Increased body weight | 33.3% | 2/6 |
| < P3 : Decreased body weight | 66.7% | 4/6 |
| Current Head circumference abnormalities | 83.3% | 5/6 |
| < P3 : Microcephaly | 83.3% | 5/6 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 6/6 |
| Inability to walk | 66.7% | 4/6 |
| Spasticity | 66.7% | 4/6 |
| Difficulty climbing stairs | 33.3% | 2/6 |
| Muscular hypotonia | 33.3% | 2/6 |
| Dystonia | 16.7% | 1/6 |
| Focal seizures | 16.7% | 1/6 |
| Gait imbalance | 16.7% | 1/6 |
| Migraine | 16.7% | 1/6 |
| Torticollis | 16.7% | 1/6 |
| Behavioral problems | 100.0% | 6/6 |
| Abnormal social behavior | 66.7% | 4/6 |
| Urinary incontinence | 33.3% | 2/6 |
| Bowel incontinence | 16.7% | 1/6 |
| Brain abnormality | 33.3% | 1/3 |
| Cerebral atrophy | 33.3% | 1/3 |
| Facial abnormalities | ||
| Abnormality of the eye | 100.0% | 2/2 |
| Upslanted palpebral fissure | 100.0% | 2/2 |
| Abnormality of the mouth | 100.0% | 2/2 |
| High palate | 100.0% | 2/2 |
| Narrow palate | 100.0% | 2/2 |
| Visual and hearing impairments | ||
| Abnormal hearing | 16.7% | 1/6 |
| Hearing impairment | 16.7% | 1/6 |
| Abnormal vision | 100.0% | 6/6 |
| Cataract | 100.0% | 6/6 |
| Abnormality of the lens | 16.7% | 1/6 |
| Amblyopia | 16.7% | 1/6 |
| Strabismus | 16.7% | 1/6 |
| Urogenital | ||
| Abnormality of the urogenital system | 16.7% | 1/6 |
| Early onset of sexual maturation | 16.7% | 1/6 |
| Skeleton | ||
| Skeletal abnormalities | 33.3% | 2/6 |
| Kyphosis | 33.3% | 2/6 |
| Pes planus | 33.3% | 2/6 |
| Tapered finger | 33.3% | 2/6 |
| Scoliosis | 16.7% | 1/6 |
| Valgus foot deformity | 16.7% | 1/6 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 33.3% | 2/6 |
| Abnormality of the skin | 50.0% | 3/6 |
| Acanthosis nigricans | 33.3% | 2/6 |
| Facial hypertrichosis | 33.3% | 2/6 |
| Hirsutism | 33.3% | 2/6 |
| Striae distensae | 33.3% | 2/6 |
| Large cafe-au-lait macules with irregular margins | 16.7% | 1/6 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 16.7% | 1/6 |
| Insulin resistance | 16.7% | 1/6 |
| Abnormality of the immune system | 83.3% | 5/6 |
| Lymphopenia | 66.7% | 4/6 |
| Recurrent upper respiratory tract infections | 16.7% | 1/6 |
| Tonsillitis | 16.7% | 1/6 |