ATIC
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 37.5% | 3/8 |
| Female | 62.5% | 5/8 |
| Indifferent | 0% | 0/8 |
| Unknown | 0% | 0/8 |
| General | ||
| Birth Length abnormalities | 12.5% | 1/8 |
| < P3 : Birth length less than 3rd percentile | 12.5% | 1/8 |
| Birth Weight abnormalities | 12.5% | 1/8 |
| < P3 : Small for gestational age | 12.5% | 1/8 |
| Birth Head circumference abnormalities | 0% | 0/8 |
| Current Height abnormalities | 50.0% | 4/8 |
| < P3 : Short stature | 50.0% | 4/8 |
| Current Weight abnormalities | 50.0% | 4/8 |
| < P3 : Decreased body weight | 50.0% | 4/8 |
| Current Head circumference abnormalities | 12.5% | 1/8 |
| < P3 : Microcephaly | 12.5% | 1/8 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 8/8 |
| Generalized hypotonia | 37.5% | 3/8 |
| Global developmental delay | 25.0% | 2/8 |
| Abnormal involuntary eye movements | 12.5% | 1/8 |
| Absent speech | 12.5% | 1/8 |
| EEG with occipital focal spike waves | 12.5% | 1/8 |
| EEG with parietal focal spike waves | 12.5% | 1/8 |
| Focal impaired awareness seizure | 12.5% | 1/8 |
| Focal-onset seizure | 12.5% | 1/8 |
| Generalized-onset seizure | 12.5% | 1/8 |
| Hypotonia | 12.5% | 1/8 |
| Involuntary movements | 12.5% | 1/8 |
| Seizure | 12.5% | 1/8 |
| Brain abnormality | 50.0% | 4/8 |
| Abnormal cerebral cortex morphology | 12.5% | 1/8 |
| Delayed myelination | 12.5% | 1/8 |
| Periventricular white matter hypodensities | 12.5% | 1/8 |
| Periventricular leukomalacia | 12.5% | 1/8 |
| Thick corpus callosum | 12.5% | 1/8 |
| Facial abnormalities | ||
| Abnormality of the ear | 57.1% | 4/7 |
| Low-set ears | 28.6% | 2/7 |
| Microtia | 14.3% | 1/7 |
| Posteriorly rotated ears | 14.3% | 1/7 |
| Abnormality of the nose | 85.7% | 6/7 |
| Anteverted nares | 57.1% | 4/7 |
| Depressed nasal bridge | 42.9% | 3/7 |
| Depressed nasal tip | 28.6% | 2/7 |
| Abnormality of the philtrum | 14.3% | 1/7 |
| Abnormal nasal tip morphology | 14.3% | 1/7 |
| Prominent nasal bridge | 14.3% | 1/7 |
| Abnormality of the mouth | 57.1% | 4/7 |
| Malar flattening | 14.3% | 1/7 |
| Thin upper lip vermilion | 14.3% | 1/7 |
| Wide mouth | 14.3% | 1/7 |
| Visual and hearing impairments | ||
| Abnormal vision | 100.0% | 8/8 |
| Hypermetropia | 50.0% | 4/8 |
| Chorioretinal atrophy | 37.5% | 3/8 |
| Nystagmus | 37.5% | 3/8 |
| Horizontal jerk nystagmus | 25.0% | 2/8 |
| Reduced visual acuity | 25.0% | 2/8 |
| Retinal dystrophy | 25.0% | 2/8 |
| Strabismus | 25.0% | 2/8 |
| Abnormal electroretinogram | 12.5% | 1/8 |
| Abnormality of visual evoked potentials | 12.5% | 1/8 |
| Congenital blindness | 12.5% | 1/8 |
| Esotropia | 12.5% | 1/8 |
| Optic atrophy | 12.5% | 1/8 |
| Severely reduced visual acuity | 12.5% | 1/8 |
| Visual impairment | 12.5% | 1/8 |
| Heart | ||
| Abnormality of the heart | 42.9% | 3/7 |
| Coarctation of aorta | 14.3% | 1/7 |
| Patent ductus arteriosus | 14.3% | 1/7 |
| Secundum atrial septal defect | 14.3% | 1/7 |
| Ventricular septal defect | 14.3% | 1/7 |
| 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 | 57.1% | 4/7 |
| Scoliosis | 42.9% | 3/7 |
| Calcaneovalgus deformity | 14.3% | 1/7 |
| Marked delay in bone age | 14.3% | 1/7 |
| Pes planus | 14.3% | 1/7 |
| Thoracolumbar kyphoscoliosis | 14.3% | 1/7 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 71.4% | 5/7 |
| Skin dimple | 42.9% | 3/7 |
| Synophrys | 28.6% | 2/7 |
| Deep palmar crease | 14.3% | 1/7 |
| Hyperpigmentation of the skin | 14.3% | 1/7 |
| Hypertrichosis | 14.3% | 1/7 |
| Long eyelashes | 14.3% | 1/7 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the metabolic system | 62.5% | 5/8 |
| Hepatomegaly | 37.5% | 3/8 |
| Hepatic steatosis | 25.0% | 2/8 |
| Abnormal circulating purine concentration | 12.5% | 1/8 |
| Hypoglycemia | 12.5% | 1/8 |
| Hyponatremia | 12.5% | 1/8 |