CEP120
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 66.7% | 4/6 |
| Female | 33.3% | 2/6 |
| Indifferent | 0% | 0/6 |
| Unknown | 0% | 0/6 |
| General | ||
| Birth Length abnormalities | 0% | 0/12 |
| Birth Weight abnormalities | 0% | 0/12 |
| Birth Head circumference abnormalities | 0% | 0/12 |
| Current Height abnormalities | 0% | 0/12 |
| Current Weight abnormalities | 0% | 0/12 |
| Current Head circumference abnormalities | 0% | 0/12 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 4/4 |
| Hypotonia | 100.0% | 4/4 |
| Truncal ataxia | 50.0% | 2/4 |
| Duane anomaly | 25.0% | 1/4 |
| Nystagmus | 25.0% | 1/4 |
| Oculomotor apraxia | 25.0% | 1/4 |
| Brain abnormality | 100.0% | 6/6 |
| Molar tooth sign on MRI | 83.3% | 5/6 |
| Enlarged posterior fossa | 33.3% | 2/6 |
| Occipital encephalocele | 33.3% | 2/6 |
| Aplasia/Hypoplasia of the corpus callosum | 16.7% | 1/6 |
| Ventriculomegaly | 16.7% | 1/6 |
| Facial abnormalities | ||
| Abnormality of the eye | 16.7% | 1/6 |
| Microphthalmia | 16.7% | 1/6 |
| Abnormality of the mouth | 33.3% | 2/6 |
| Cleft palate | 33.3% | 2/6 |
| Abnormal oral frenulum morphology | 16.7% | 1/6 |
| Lobulated tongue | 16.7% | 1/6 |
| Visual and hearing impairments | ||
| Abnormal vision | 25.0% | 1/4 |
| Strabismus | 25.0% | 1/4 |
| Skeleton | ||
| Skeletal abnormalities | 33.3% | 2/6 |
| Bell-shaped thorax | 33.3% | 2/6 |
| Mesomelic/rhizomelic limb shortening | 33.3% | 2/6 |
| Short ribs | 33.3% | 2/6 |
| Bowing of the long bones | 16.7% | 1/6 |
| Brachydactyly | 16.7% | 1/6 |
| Clinodactyly | 16.7% | 1/6 |
| Postaxial hand polydactyly | 16.7% | 1/6 |
| Preaxial foot polydactyly | 16.7% | 1/6 |
| Sandal gap | 16.7% | 1/6 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 16.7% | 1/6 |
| Ambiguous genitalia | 16.7% | 1/6 |
| Abnormality of the metabolic system | 16.7% | 1/6 |
| Renal cyst | 16.7% | 1/6 |