CCDC88A
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 60.0% | 3/5 |
| Female | 40.0% | 2/5 |
| Indifferent | 0% | 0/5 |
| Unknown | 0% | 0/5 |
| General | ||
| Birth Length abnormalities | 20.0% | 1/5 |
| < P3 : Birth length less than 3rd percentile | 20.0% | 1/5 |
| Birth Weight abnormalities | 20.0% | 1/5 |
| < P3 : Small for gestational age | 20.0% | 1/5 |
| Birth Head circumference abnormalities | 60.0% | 3/5 |
| < P3 : Congenital microcephaly | 60.0% | 3/5 |
| Current Height abnormalities | 0% | 0/5 |
| Current Weight abnormalities | 0% | 0/5 |
| Current Head circumference abnormalities | 40.0% | 2/5 |
| < P3 : Microcephaly | 40.0% | 2/5 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 5/5 |
| Seizures | 100.0% | 5/5 |
| Brisk reflexes | 60.0% | 3/5 |
| Muscular hypotonia | 60.0% | 3/5 |
| Hypsarrhythmia | 40.0% | 2/5 |
| Infantile spasms | 40.0% | 2/5 |
| Abnormality of somatosensory evoked potentials | 20.0% | 1/5 |
| Myoclonus | 20.0% | 1/5 |
| Spastic tetraplegia | 20.0% | 1/5 |
| Spastic paraplegia | 20.0% | 1/5 |
| Behavioral problems | 20.0% | 1/5 |
| Absent speech | 20.0% | 1/5 |
| Spasticity | 20.0% | 1/5 |
| Brain abnormality | 100.0% | 5/5 |
| Hypoplasia of the pons | 60.0% | 3/5 |
| Polymicrogyria | 60.0% | 3/5 |
| Abnormality of the corpus callosum | 40.0% | 2/5 |
| Brain atrophy | 40.0% | 2/5 |
| Pachygyria | 40.0% | 2/5 |
| Abnormality of the cerebral white matter | 20.0% | 1/5 |
| Aplasia/Hypoplasia of the cerebellum | 20.0% | 1/5 |
| Cortical gyral simplification | 20.0% | 1/5 |
| Dilation of lateral ventricles | 20.0% | 1/5 |
| Subependymal cysts | 20.0% | 1/5 |
| Facial abnormalities | ||
| Abnormality of the eye | 100.0% | 3/3 |
| Epicanthus | 100.0% | 3/3 |
| Abnormality of the nose | 100.0% | 3/3 |
| Short nose | 100.0% | 3/3 |
| Abnormality of the mouth | 100.0% | 3/3 |
| Open mouth | 100.0% | 3/3 |
| Retrognathia | 100.0% | 3/3 |
| Micrognathia | 33.3% | 1/3 |
| Visual and hearing impairments | ||
| Abnormal vision | 100.0% | 5/5 |
| Optic atrophy | 60.0% | 3/5 |
| Abnormality of eye movement | 40.0% | 2/5 |
| Visual impairment | 40.0% | 2/5 |
| Severe visual impairment | 20.0% | 1/5 |
| Urogenital | ||
| Abnormality of the urogenital system | 20.0% | 1/5 |
| Bilateral cryptorchidism | 20.0% | 1/5 |
| Skeleton | ||
| Skeletal abnormalities | 40.0% | 2/5 |
| Thoracolumbar kyphoscoliosis | 40.0% | 2/5 |
| Hip contracture | 20.0% | 1/5 |
| Hip dislocation | 20.0% | 1/5 |
| Tapered finger | 20.0% | 1/5 |