| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 64.3% | 9/14 |
| Female | 35.7% | 5/14 |
| General | ||
| Birth Length abnormalities | 21.4% | 3/14 |
| < P3 : Birth length less than 3rd percentile | 21.4% | 3/14 |
| Birth Weight abnormalities | 14.3% | 2/14 |
| < P3 : Small for gestational age | 14.3% | 2/14 |
| Birth Head circumference abnormalities | 7.1% | 1/14 |
| < P3 : Congenital microcephaly | 7.1% | 1/14 |
| Current Height abnormalities | 42.9% | 6/14 |
| > P98 : Tall stature | 28.6% | 4/14 |
| < P3 : Short stature | 14.3% | 2/14 |
| Current Weight abnormalities | 50.0% | 7/14 |
| > P98 : Increased body weight | 35.7% | 5/14 |
| < P3 : Decreased body weight | 14.3% | 2/14 |
| Current Head circumference abnormalities | 35.7% | 5/14 |
| < P3 : Microcephaly | 35.7% | 5/14 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 14/14 |
| Muscular hypotonia | 92.9% | 13/14 |
| Central sleep apnea | 35.7% | 5/14 |
| Seizures | 35.7% | 5/14 |
| Dysphagia | 21.4% | 3/14 |
| Facial hypotonia | 21.4% | 3/14 |
| Nystagmus | 21.4% | 3/14 |
| Obstructive sleep apnea | 21.4% | 3/14 |
| Dyskinesia | 7.1% | 1/14 |
| Focal seizures | 7.1% | 1/14 |
| Generalized seizures | 7.1% | 1/14 |
| Rotary nystagmus | 7.1% | 1/14 |
| Severe muscular hypotonia | 7.1% | 1/14 |
| Behavioral problems | 25.0% | 2/8 |
| Autistic behavior | 12.5% | 1/8 |
| Irritability | 12.5% | 1/8 |
| Polyphagia | 12.5% | 1/8 |
| Brain abnormality | 77.8% | 7/9 |
| Brain atrophy | 22.2% | 2/9 |
| Delayed myelination | 22.2% | 2/9 |
| EEG abnormality | 22.2% | 2/9 |
| Ventriculomegaly | 11.1% | 1/9 |
| Widened subarachnoid space | 11.1% | 1/9 |
| Facial abnormalities | ||
| Abnormality of the eye | 71.4% | 5/7 |
| Deeply set eye | 42.9% | 3/7 |
| Long palpebral fissure | 14.3% | 1/7 |
| Long eyelashes | 14.3% | 1/7 |
| Synophrys | 14.3% | 1/7 |
| Upslanted palpebral fissure | 14.3% | 1/7 |
| Abnormality of the nose | 28.6% | 2/7 |
| Prominent nasal bridge | 14.3% | 1/7 |
| Short nose | 14.3% | 1/7 |
| Abnormality of the mouth | 57.1% | 4/7 |
| Smooth philtrum | 42.9% | 3/7 |
| Pointed chin | 14.3% | 1/7 |
| Visual and hearing impairments | ||
| Abnormal vision | 90.9% | 10/11 |
| Exotropia | 45.5% | 5/11 |
| Visual impairment | 36.4% | 4/11 |
| Amblyopia | 27.3% | 3/11 |
| Strabismus | 27.3% | 3/11 |
| Cortical visual impairment | 18.2% | 2/11 |
| Myopia | 18.2% | 2/11 |
| Alternating esotropia | 9.1% | 1/11 |
| Hypermetropia | 9.1% | 1/11 |
| Optic atrophy | 9.1% | 1/11 |
| Temporal optic disc pallor | 9.1% | 1/11 |
| Pulmonary | ||
| Abnormality of the lungs | 85.7% | 12/14 |
| Abnormal pattern of respiration | 35.7% | 5/14 |
| Hypoventilation | 35.7% | 5/14 |
| Recurrent pneumonia | 35.7% | 5/14 |
| Pneumonia | 21.4% | 3/14 |
| Respiratory distress | 14.3% | 2/14 |
| Bronchiolitis | 7.1% | 1/14 |
| Respiratory insufficiency | 7.1% | 1/14 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 80.0% | 8/10 |
| Gastroesophageal reflux | 50.0% | 5/10 |
| Constipation | 30.0% | 3/10 |
| Esophagitis | 10.0% | 1/10 |
| Feeding difficulties in infancy | 10.0% | 1/10 |
| Feeding difficulties | 10.0% | 1/10 |
| Hepatomegaly | 10.0% | 1/10 |
| Hepatic steatosis | 10.0% | 1/10 |
| Urogenital | ||
| Abnormality of the urogenital system | 9.1% | 1/11 |
| Hydronephrosis | 9.1% | 1/11 |
| Skeleton | ||
| Skeletal abnormalities | 41.7% | 5/12 |
| Pes planus | 16.7% | 2/12 |
| Abnormality of muscle fibers | 8.3% | 1/12 |
| Accelerated skeletal maturation | 8.3% | 1/12 |
| Fractures of the long bones | 8.3% | 1/12 |
| Scoliosis | 8.3% | 1/12 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 50.0% | 1/2 |
| Hypothyroidism | 50.0% | 1/2 |
| Abnormality of the immune system | 100.0% | 3/3 |
| Respiratory tract infection | 66.7% | 2/3 |
| Respiratory infections in early life | 33.3% | 1/3 |