ANKLE2
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 28.6% | 2/7 |
| Female | 71.4% | 5/7 |
| Indifferent | 0% | 0/7 |
| Unknown | 0% | 0/7 |
| General | ||
| Birth Length abnormalities | 28.6% | 2/7 |
| < P3 : Birth length less than 3rd percentile | 28.6% | 2/7 |
| Birth Weight abnormalities | 42.9% | 3/7 |
| < P3 : Small for gestational age | 42.9% | 3/7 |
| Birth Head circumference abnormalities | 57.1% | 4/7 |
| < P3 : Primary microcephaly | 57.1% | 4/7 |
| Current Height abnormalities | 57.1% | 4/7 |
| < P3 : Short stature | 57.1% | 4/7 |
| Current Weight abnormalities | 71.4% | 5/7 |
| < P3 : Decreased body weight | 71.4% | 5/7 |
| Current Head circumference abnormalities | 85.7% | 6/7 |
| < P3 : Microcephaly | 85.7% | 6/7 |
| Neurology | ||
| Neurological abnormalities | 66.7% | 4/6 |
| Focal impaired awareness seizure | 50.0% | 3/6 |
| Hypotonia | 33.3% | 2/6 |
| Abnormal muscle tone | 16.7% | 1/6 |
| Abnormal cerebrospinal fluid morphology | 16.7% | 1/6 |
| Abnormal optic nerve morphology | 16.7% | 1/6 |
| Glaucoma | 16.7% | 1/6 |
| Behavioral problems | 100.0% | 2/2 |
| Hyperactivity | 50.0% | 1/2 |
| Irritability | 50.0% | 1/2 |
| Restlessness | 50.0% | 1/2 |
| Sleep-wake cycle disturbance | 50.0% | 1/2 |
| Brain abnormality | 100.0% | 7/7 |
| Primary microcephaly | 85.7% | 6/7 |
| Simplified gyral pattern | 57.1% | 4/7 |
| Hypoplasia of the frontal lobes | 28.6% | 2/7 |
| Partial agenesis of the corpus callosum | 28.6% | 2/7 |
| Abnormal cerebral white matter morphology | 14.3% | 1/7 |
| Abnormal cerebral ventricle morphology | 14.3% | 1/7 |
| Corpus callosum atrophy | 14.3% | 1/7 |
| Cortical dysplasia | 14.3% | 1/7 |
| Diffuse white matter abnormalities | 14.3% | 1/7 |
| Hypoplasia of the corpus callosum | 14.3% | 1/7 |
| Short corpus callosum | 14.3% | 1/7 |
| Thick corpus callosum | 14.3% | 1/7 |
| Facial abnormalities | ||
| Abnormality of the ear | 14.3% | 1/7 |
| Macrotia | 14.3% | 1/7 |
| Abnormality of the eye | 57.1% | 4/7 |
| Downslanted palpebral fissures | 28.6% | 2/7 |
| Abnormal pupillary function | 14.3% | 1/7 |
| Glaucoma | 14.3% | 1/7 |
| Opacification of the corneal stroma | 14.3% | 1/7 |
| Ptosis | 14.3% | 1/7 |
| Telecanthus | 14.3% | 1/7 |
| Upslanted palpebral fissure | 14.3% | 1/7 |
| Abnormality of the nose | 57.1% | 4/7 |
| Prominent nasal bridge | 28.6% | 2/7 |
| Anteverted nares | 14.3% | 1/7 |
| Bulbous nose | 14.3% | 1/7 |
| Prominent nasal tip | 14.3% | 1/7 |
| Prominent nose | 14.3% | 1/7 |
| Abnormality of the mouth | 28.6% | 2/7 |
| Micrognathia | 14.3% | 1/7 |
| Thick vermilion border | 14.3% | 1/7 |
| Widely-spaced incisors | 14.3% | 1/7 |
| Visual and hearing impairments | ||
| Abnormal vision | 25.0% | 1/4 |
| Abnormality of eye movement | 25.0% | 1/4 |
| Heart | ||
| Abnormality of the heart | 50.0% | 1/2 |
| Premature atrial contractions | 50.0% | 1/2 |
| Pulmonary | ||
| Abnormality of the lungs | 100.0% | 1/1 |
| Abnormal lung lobation | 100.0% | 1/1 |
| Pulmonary hypoplasia | 100.0% | 1/1 |
| Urogenital | ||
| Abnormality of the urogenital system | 75.0% | 3/4 |
| Cryptorchidism | 25.0% | 1/4 |
| Renal hypoplasia | 25.0% | 1/4 |
| Urinary incontinence | 25.0% | 1/4 |
| Skeleton | ||
| Skeletal abnormalities | 85.7% | 6/7 |
| Primary microcephaly | 71.4% | 5/7 |
| Abnormal form of the vertebral bodies | 14.3% | 1/7 |
| Adducted thumb | 14.3% | 1/7 |
| Knee flexion contracture | 14.3% | 1/7 |
| Microcephaly | 14.3% | 1/7 |
| Narrow jaw | 14.3% | 1/7 |
| Short stature | 14.3% | 1/7 |
| Sloping forehead | 14.3% | 1/7 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 100.0% | 5/5 |
| Hyperpigmented/hypopigmented macules | 100.0% | 5/5 |
| Cutis gyrata of scalp | 40.0% | 2/5 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 50.0% | 1/2 |
| Hepatomegaly | 50.0% | 1/2 |
| Abnormality of the metabolic system | 50.0% | 1/2 |
| Metabolic acidosis | 50.0% | 1/2 |