| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 45.5% | 5/11 |
| Female | 54.5% | 6/11 |
| General | ||
| Birth Length abnormalities | 0% | 0/11 |
| Birth Weight abnormalities | 9.1% | 1/11 |
| > P98 : Large for gestational age | 9.1% | 1/11 |
| Birth Head circumference abnormalities | 9.1% | 1/11 |
| > P98 : Macrocephaly at birth | 9.1% | 1/11 |
| Current Height abnormalities | 9.1% | 1/11 |
| < P3 : Short stature | 9.1% | 1/11 |
| Current Weight abnormalities | 18.2% | 2/11 |
| < P3 : Decreased body weight | 18.2% | 2/11 |
| Current Head circumference abnormalities | 36.4% | 4/11 |
| < P3 : Microcephaly | 36.4% | 4/11 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 11/11 |
| Muscular hypotonia | 81.8% | 9/11 |
| Poor head control | 81.8% | 9/11 |
| Seizures | 72.7% | 8/11 |
| Dystonia | 54.5% | 6/11 |
| Status epilepticus | 36.4% | 4/11 |
| Ataxia | 27.3% | 3/11 |
| Generalized tonic-clonic seizures | 27.3% | 3/11 |
| Spasticity | 27.3% | 3/11 |
| Hyperreflexia | 18.2% | 2/11 |
| Nystagmus | 18.2% | 2/11 |
| Brisk reflexes | 9.1% | 1/11 |
| Chorea | 9.1% | 1/11 |
| Gait ataxia | 9.1% | 1/11 |
| Horizontal nystagmus | 9.1% | 1/11 |
| Myoclonus | 9.1% | 1/11 |
| Photomyoclonic seizures | 9.1% | 1/11 |
| Brain abnormality | 100.0% | 10/10 |
| Epileptic encephalopathy | 90.0% | 9/10 |
| Cerebellar atrophy | 30.0% | 3/10 |
| Cerebral palsy | 20.0% | 2/10 |
| Delayed CNS myelination | 20.0% | 2/10 |
| Aplasia/Hypoplasia of the corpus callosum | 10.0% | 1/10 |
| Cerebral cortical atrophy | 10.0% | 1/10 |
| Gliosis | 10.0% | 1/10 |
| Hypsarrhythmia | 10.0% | 1/10 |
| Pituitary adenoma | 10.0% | 1/10 |
| Facial abnormalities | ||
| Abnormality of the ear | 14.3% | 1/7 |
| Large earlobe | 14.3% | 1/7 |
| Abnormality of the eye | 14.3% | 1/7 |
| Deeply set eye | 14.3% | 1/7 |
| Abnormality of the mouth | 14.3% | 1/7 |
| Thick vermilion border | 14.3% | 1/7 |
| Visual and hearing impairments | ||
| Abnormal hearing | 11.1% | 1/9 |
| Bilateral sensorineural hearing impairment | 11.1% | 1/9 |
| Abnormal vision | 90.0% | 9/10 |
| Cortical visual impairment | 40.0% | 4/10 |
| Hypermetropia | 20.0% | 2/10 |
| Visual impairment | 20.0% | 2/10 |
| Exotropia | 10.0% | 1/10 |
| Optic disc hypoplasia | 10.0% | 1/10 |
| Retinal dystrophy | 10.0% | 1/10 |
| Heart | ||
| Abnormality of the heart | 100.0% | 1/1 |
| Dilated cardiomyopathy | 100.0% | 1/1 |
| Pulmonary | ||
| Abnormality of the lungs | 100.0% | 8/8 |
| Aspiration | 75.0% | 6/8 |
| Aspiration pneumonia | 25.0% | 2/8 |
| Recurrent respiratory infections | 12.5% | 1/8 |
| Respiratory infections in early life | 12.5% | 1/8 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 88.9% | 8/9 |
| Feeding difficulties | 88.9% | 8/9 |
| Decreased liver function | 11.1% | 1/9 |
| Gastroesophageal reflux | 11.1% | 1/9 |
| Urogenital | ||
| Abnormality of the urogenital system | 100.0% | 1/1 |
| Generalized aminoaciduria | 100.0% | 1/1 |
| Renal tubular dysfunction | 100.0% | 1/1 |
| Skeleton | ||
| Skeletal abnormalities | 60.0% | 3/5 |
| Osteopenia | 40.0% | 2/5 |
| Abnormality of the vertebrae | 20.0% | 1/5 |
| Abnormal pelvis bone morphology | 20.0% | 1/5 |
| Broad femoral head | 20.0% | 1/5 |
| Contractures of the joints of the upper limbs | 20.0% | 1/5 |
| Radial bowing | 20.0% | 1/5 |
| Scoliosis | 20.0% | 1/5 |
| Skeletal dysplasia | 20.0% | 1/5 |
| Thickened calvaria | 20.0% | 1/5 |
| Thoracic scoliosis | 20.0% | 1/5 |
| Ulnar bowing | 20.0% | 1/5 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 25.0% | 1/4 |
| Localized skin lesion | 25.0% | 1/4 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the immune system | 100.0% | 2/2 |
| Increased IgE level | 100.0% | 2/2 |
| Increased IgM level | 50.0% | 1/2 |