AIMP2
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 25.0% | 1/4 |
| Female | 75.0% | 3/4 |
| Indifferent | 0% | 0/4 |
| Unknown | 0% | 0/4 |
| General | ||
| Birth Length abnormalities | 0% | 0/4 |
| Birth Weight abnormalities | 0% | 0/4 |
| Birth Head circumference abnormalities | 25.0% | 1/4 |
| < P3 : Congenital microcephaly | 25.0% | 1/4 |
| Current Height abnormalities | 50.0% | 2/4 |
| < P3 : Short stature | 50.0% | 2/4 |
| Current Weight abnormalities | 50.0% | 2/4 |
| < P3 : Decreased body weight | 50.0% | 2/4 |
| Current Head circumference abnormalities | 100.0% | 4/4 |
| < P3 : Microcephaly | 100.0% | 4/4 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 3/3 |
| Spasticity | 100.0% | 3/3 |
| Babinski sign | 33.3% | 1/3 |
| Focal seizures | 33.3% | 1/3 |
| Generalized tonic-clonic seizures | 33.3% | 1/3 |
| Generalized myoclonic seizures | 33.3% | 1/3 |
| Hyperreflexia | 33.3% | 1/3 |
| Paroxysmal dystonia | 33.3% | 1/3 |
| Seizures | 33.3% | 1/3 |
| Spastic tetraparesis | 33.3% | 1/3 |
| Brain abnormality | 100.0% | 4/4 |
| Cerebral atrophy | 75.0% | 3/4 |
| Aplasia/Hypoplasia of the corpus callosum | 50.0% | 2/4 |
| Cerebellar atrophy | 50.0% | 2/4 |
| Cervical spinal cord atrophy | 50.0% | 2/4 |
| Enlarged cisterna magna | 50.0% | 2/4 |
| T2 hypointense basal ganglia | 50.0% | 2/4 |
| Brain atrophy | 25.0% | 1/4 |
| CNS demyelination | 25.0% | 1/4 |
| Delayed CNS myelination | 25.0% | 1/4 |
| Leukodystrophy | 25.0% | 1/4 |
| Ventriculomegaly | 25.0% | 1/4 |
| Widened subarachnoid space | 25.0% | 1/4 |
| Facial abnormalities | ||
| Abnormality of the nose | 100.0% | 2/2 |
| Anteverted nares | 50.0% | 1/2 |
| Low hanging columella | 50.0% | 1/2 |
| Abnormality of the mouth | 100.0% | 2/2 |
| Gingival overgrowth | 50.0% | 1/2 |
| Mandibular prognathia | 50.0% | 1/2 |
| Thick vermilion border | 50.0% | 1/2 |
| Widely spaced teeth | 50.0% | 1/2 |
| Heart | ||
| Abnormality of the heart | 100.0% | 3/3 |
| Hypsarrhythmia | 66.7% | 2/3 |
| Hypotension | 33.3% | 1/3 |
| Pulmonary | ||
| Abnormality of the lungs | 100.0% | 4/4 |
| Recurrent pneumonia | 25.0% | 1/4 |
| Recurrent respiratory infections | 25.0% | 1/4 |
| Respiratory tract infection | 25.0% | 1/4 |
| Respiratory failure | 25.0% | 1/4 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 100.0% | 3/3 |
| Feeding difficulties | 66.7% | 2/3 |
| Gastroesophageal reflux | 33.3% | 1/3 |
| Skeleton | ||
| Skeletal abnormalities | 100.0% | 3/3 |
| Kyphoscoliosis | 66.7% | 2/3 |
| Abnormality of the skeletal system | 33.3% | 1/3 |
| Ankle contracture | 33.3% | 1/3 |
| Aplasia/hypoplasia of the extremities | 33.3% | 1/3 |
| Multiple joint contractures | 33.3% | 1/3 |
| Wrist flexion contracture | 33.3% | 1/3 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 50.0% | 1/2 |
| Generalized hirsutism | 50.0% | 1/2 |
| Hyperconvex nail | 50.0% | 1/2 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 100.0% | 1/1 |
| Sepsis | 100.0% | 1/1 |
| Abnormality of the metabolic system | 100.0% | 2/2 |
| Anemia | 50.0% | 1/2 |
| Hypoglycemia | 50.0% | 1/2 |