ADAT3
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 42.9% | 6/14 |
| Female | 57.1% | 8/14 |
| Indifferent | 0% | 0/14 |
| Unknown | 0% | 0/14 |
| General | ||
| Birth Length abnormalities | 0% | 0/3 |
| Birth Weight abnormalities | 0% | 0/3 |
| Birth Head circumference abnormalities | 0% | 0/4 |
| 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 | 50.0% | 4/8 |
| < P3 : Microcephaly | 50.0% | 4/8 |
| Neurology | ||
| Neurological abnormalities | 92.9% | 13/14 |
| Spasticity | 57.1% | 8/14 |
| Muscular hypotonia | 28.6% | 4/14 |
| Seizures | 14.3% | 2/14 |
| Failure to thrive | 7.1% | 1/14 |
| Generalized hypotonia | 7.1% | 1/14 |
| Behavioral problems | 33.3% | 3/9 |
| Abnormal aggressive, impulsive or violent behavior | 22.2% | 2/9 |
| Autism | 22.2% | 2/9 |
| Hyperactivity | 11.1% | 1/9 |
| Impulsivity | 11.1% | 1/9 |
| Brain abnormality | 58.3% | 7/12 |
| Arachnoid cyst | 16.7% | 2/12 |
| Brain atrophy | 16.7% | 2/12 |
| Delayed myelination | 16.7% | 2/12 |
| Abnormality of the cerebral white matter | 8.3% | 1/12 |
| Agenesis of corpus callosum | 8.3% | 1/12 |
| Corpus callosum atrophy | 8.3% | 1/12 |
| Frontotemporal cerebral atrophy | 8.3% | 1/12 |
| Facial abnormalities | ||
| Abnormality of the eye | 92.9% | 13/14 |
| Esotropia | 50.0% | 7/14 |
| Strabismus | 42.9% | 6/14 |
| Upslanted palpebral fissure | 28.6% | 4/14 |
| Epicanthus | 21.4% | 3/14 |
| Hypertelorism | 21.4% | 3/14 |
| Telecanthus | 21.4% | 3/14 |
| Highly arched eyebrow | 7.1% | 1/14 |
| Abnormality of the nose | 35.7% | 5/14 |
| Depressed nasal bridge | 21.4% | 3/14 |
| Prominent nose | 14.3% | 2/14 |
| Short nose | 14.3% | 2/14 |
| Abnormality of the mouth | 14.3% | 2/14 |
| Wide mouth | 14.3% | 2/14 |
| Visual and hearing impairments | ||
| Abnormal vision | 11.1% | 1/9 |
| Myopia | 11.1% | 1/9 |
| Heart | ||
| Abnormality of the heart | 11.1% | 1/9 |
| Patent ductus arteriosus | 11.1% | 1/9 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 11.1% | 1/9 |
| Gastroesophageal reflux | 11.1% | 1/9 |
| Skeleton | ||
| Skeletal abnormalities | 18.2% | 2/11 |
| Talipes | 18.2% | 2/11 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 18.2% | 2/11 |
| Eczema | 18.2% | 2/11 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 10.0% | 1/10 |
| Hyperthyroidism | 10.0% | 1/10 |