ATIC
| 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 | 0% | 0/5 |
| Current Height abnormalities | 40.0% | 2/5 |
| < P3 : Short stature | 40.0% | 2/5 |
| Current Weight abnormalities | 40.0% | 2/5 |
| < P3 : Decreased body weight | 40.0% | 2/5 |
| Current Head circumference abnormalities | 0% | 0/5 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 5/5 |
| Generalized hypotonia | 60.0% | 3/5 |
| Abnormal involuntary eye movements | 20.0% | 1/5 |
| EEG with occipital focal spike waves | 20.0% | 1/5 |
| EEG with parietal focal spike waves | 20.0% | 1/5 |
| Focal-onset seizure | 20.0% | 1/5 |
| Global developmental delay | 20.0% | 1/5 |
| Hypotonia | 20.0% | 1/5 |
| Involuntary movements | 20.0% | 1/5 |
| Brain abnormality | 20.0% | 1/5 |
| Abnormal cerebral cortex morphology | 20.0% | 1/5 |
| Facial abnormalities | ||
| Abnormality of the ear | 50.0% | 2/4 |
| Low-set ears | 25.0% | 1/4 |
| Posteriorly rotated ears | 25.0% | 1/4 |
| Abnormality of the nose | 100.0% | 4/4 |
| Anteverted nares | 50.0% | 2/4 |
| Depressed nasal tip | 50.0% | 2/4 |
| Depressed nasal bridge | 50.0% | 2/4 |
| Abnormality of the philtrum | 25.0% | 1/4 |
| Prominent nasal bridge | 25.0% | 1/4 |
| Abnormality of the mouth | 50.0% | 2/4 |
| Thin upper lip vermilion | 25.0% | 1/4 |
| Visual and hearing impairments | ||
| Abnormal vision | 100.0% | 5/5 |
| Chorioretinal atrophy | 40.0% | 2/5 |
| Horizontal jerk nystagmus | 40.0% | 2/5 |
| Hypermetropia | 40.0% | 2/5 |
| Reduced visual acuity | 40.0% | 2/5 |
| Retinal dystrophy | 40.0% | 2/5 |
| Abnormality of visual evoked potentials | 20.0% | 1/5 |
| Abnormal electroretinogram | 20.0% | 1/5 |
| Congenital blindness | 20.0% | 1/5 |
| Esotropia | 20.0% | 1/5 |
| Nystagmus | 20.0% | 1/5 |
| Optic atrophy | 20.0% | 1/5 |
| Strabismus | 20.0% | 1/5 |
| Visual impairment | 20.0% | 1/5 |
| Heart | ||
| Abnormality of the heart | 25.0% | 1/4 |
| Secundum atrial septal defect | 25.0% | 1/4 |
| Urogenital | ||
| Abnormality of the urogenital system | 50.0% | 2/4 |
| Bilateral cryptorchidism | 25.0% | 1/4 |
| Fused labia minora | 25.0% | 1/4 |
| Nephrocalcinosis | 25.0% | 1/4 |
| obsolete Clitoromegaly | 25.0% | 1/4 |
| Skeleton | ||
| Skeletal abnormalities | 25.0% | 1/4 |
| Marked delay in bone age | 25.0% | 1/4 |
| Thoracolumbar kyphoscoliosis | 25.0% | 1/4 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 50.0% | 2/4 |
| Hypertrichosis | 25.0% | 1/4 |
| Long eyelashes | 25.0% | 1/4 |
| Skin dimple | 25.0% | 1/4 |
| Synophrys | 25.0% | 1/4 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the metabolic system | 80.0% | 4/5 |
| Hepatic steatosis | 40.0% | 2/5 |
| Hepatomegaly | 40.0% | 2/5 |
| Abnormal circulating purine concentration | 20.0% | 1/5 |
| Hypoglycemia | 20.0% | 1/5 |
| Hyponatremia | 20.0% | 1/5 |