ANKLE2
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 36.4% | 4/11 |
| Female | 63.6% | 7/11 |
| Indifferent | 0% | 0/11 |
| Unknown | 0% | 0/11 |
| General | ||
| Birth Length abnormalities | 18.2% | 2/11 |
| < P3 : Birth length less than 3rd percentile | 18.2% | 2/11 |
| Birth Weight abnormalities | 27.3% | 3/11 |
| < P3 : Small for gestational age | 27.3% | 3/11 |
| Birth Head circumference abnormalities | 45.5% | 5/11 |
| < P3 : Primary microcephaly | 45.5% | 5/11 |
| Current Height abnormalities | 36.4% | 4/11 |
| < P3 : Short stature | 36.4% | 4/11 |
| Current Weight abnormalities | 54.5% | 6/11 |
| < P3 : Decreased body weight | 54.5% | 6/11 |
| Current Head circumference abnormalities | 90.9% | 10/11 |
| < P3 : Microcephaly | 90.9% | 10/11 |
| Neurology | ||
| Neurological abnormalities | 66.7% | 6/9 |
| Hypotonia | 44.4% | 4/9 |
| Focal impaired awareness seizure | 33.3% | 3/9 |
| Abnormal optic nerve morphology | 11.1% | 1/9 |
| Abnormal muscle tone | 11.1% | 1/9 |
| Abnormal cerebrospinal fluid morphology | 11.1% | 1/9 |
| Delayed gross motor development | 11.1% | 1/9 |
| Delayed speech and language development | 11.1% | 1/9 |
| Glaucoma | 11.1% | 1/9 |
| Behavioral problems | 66.7% | 2/3 |
| Hyperactivity | 33.3% | 1/3 |
| Irritability | 33.3% | 1/3 |
| Restlessness | 33.3% | 1/3 |
| Sleep-wake cycle disturbance | 33.3% | 1/3 |
| Brain abnormality | 100.0% | 11/11 |
| Primary microcephaly | 54.5% | 6/11 |
| Simplified gyral pattern | 54.5% | 6/11 |
| Hypoplasia of the frontal lobes | 27.3% | 3/11 |
| Abnormal cerebral white matter morphology | 18.2% | 2/11 |
| Aplasia/Hypoplasia of the corpus callosum | 18.2% | 2/11 |
| Partial agenesis of the corpus callosum | 18.2% | 2/11 |
| Abnormal cerebral ventricle morphology | 9.1% | 1/11 |
| Abnormal corpus callosum morphology | 9.1% | 1/11 |
| Cerebral white matter hypoplasia | 9.1% | 1/11 |
| Colpocephaly | 9.1% | 1/11 |
| Corpus callosum atrophy | 9.1% | 1/11 |
| Cortical dysplasia | 9.1% | 1/11 |
| Diffuse white matter abnormalities | 9.1% | 1/11 |
| Enlarged cisterna magna | 9.1% | 1/11 |
| Hypoplasia of the corpus callosum | 9.1% | 1/11 |
| Microcephaly | 9.1% | 1/11 |
| Secondary microcephaly | 9.1% | 1/11 |
| Short corpus callosum | 9.1% | 1/11 |
| Thick corpus callosum | 9.1% | 1/11 |
| Facial abnormalities | ||
| Abnormality of the ear | 18.2% | 2/11 |
| Macrotia | 9.1% | 1/11 |
| Uplifted earlobe | 9.1% | 1/11 |
| Abnormality of the eye | 45.5% | 5/11 |
| Downslanted palpebral fissures | 18.2% | 2/11 |
| Abnormal pupillary function | 9.1% | 1/11 |
| Epicanthus | 9.1% | 1/11 |
| Glaucoma | 9.1% | 1/11 |
| Opacification of the corneal stroma | 9.1% | 1/11 |
| Ptosis | 9.1% | 1/11 |
| Telecanthus | 9.1% | 1/11 |
| Upslanted palpebral fissure | 9.1% | 1/11 |
| Abnormality of the nose | 45.5% | 5/11 |
| Prominent nasal bridge | 18.2% | 2/11 |
| Anteverted nares | 9.1% | 1/11 |
| Bulbous nose | 9.1% | 1/11 |
| Prominent nose | 9.1% | 1/11 |
| Prominent nasal tip | 9.1% | 1/11 |
| Wide nasal bridge | 9.1% | 1/11 |
| Abnormality of the mouth | 36.4% | 4/11 |
| Micrognathia | 27.3% | 3/11 |
| Thick vermilion border | 9.1% | 1/11 |
| Widely-spaced incisors | 9.1% | 1/11 |
| Visual and hearing impairments | ||
| Abnormal vision | 12.5% | 1/8 |
| Abnormality of eye movement | 12.5% | 1/8 |
| Heart | ||
| Abnormality of the heart | 33.3% | 1/3 |
| Premature atrial contractions | 33.3% | 1/3 |
| Pulmonary | ||
| Abnormality of the lungs | 50.0% | 1/2 |
| Abnormal lung lobation | 50.0% | 1/2 |
| Pulmonary hypoplasia | 50.0% | 1/2 |
| Urogenital | ||
| Abnormality of the urogenital system | 60.0% | 3/5 |
| Cryptorchidism | 20.0% | 1/5 |
| Renal hypoplasia | 20.0% | 1/5 |
| Urinary incontinence | 20.0% | 1/5 |
| Skeleton | ||
| Skeletal abnormalities | 90.0% | 9/10 |
| Primary microcephaly | 50.0% | 5/10 |
| Microcephaly | 30.0% | 3/10 |
| Abnormal form of the vertebral bodies | 10.0% | 1/10 |
| Adducted thumb | 10.0% | 1/10 |
| Knee flexion contracture | 10.0% | 1/10 |
| Narrow jaw | 10.0% | 1/10 |
| Short stature | 10.0% | 1/10 |
| Sloping forehead | 10.0% | 1/10 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 100.0% | 7/7 |
| Hyperpigmented/hypopigmented macules | 85.7% | 6/7 |
| Cutis gyrata of scalp | 28.6% | 2/7 |
| Few cafe-au-lait spots | 14.3% | 1/7 |
| Hypopigmented skin patches | 14.3% | 1/7 |
| Inverted nipples | 14.3% | 1/7 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 33.3% | 1/3 |
| Hepatomegaly | 33.3% | 1/3 |
| Abnormality of the metabolic system | 33.3% | 1/3 |
| Metabolic acidosis | 33.3% | 1/3 |