| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 37.5% | 3/8 |
| Female | 62.5% | 5/8 |
| Indifferent | 0% | 0/8 |
| Unknown | 0% | 0/8 |
| General | ||
| Birth Length abnormalities | 12.5% | 1/8 |
| < P3 : Birth length less than 3rd percentile | 12.5% | 1/8 |
| Birth Weight abnormalities | 62.5% | 5/8 |
| < P3 : Small for gestational age | 62.5% | 5/8 |
| Birth Head circumference abnormalities | 12.5% | 1/8 |
| < P3 : Congenital microcephaly | 12.5% | 1/8 |
| Current Height abnormalities | 87.5% | 7/8 |
| < P3 : Short stature | 87.5% | 7/8 |
| Current Weight abnormalities | 62.5% | 5/8 |
| < P3 : Decreased body weight | 62.5% | 5/8 |
| Current Head circumference abnormalities | 87.5% | 7/8 |
| < P3 : Microcephaly | 87.5% | 7/8 |
| Neurology | ||
| Brain abnormality | 28.6% | 2/7 |
| Abnormality of brain morphology | 14.3% | 1/7 |
| Basal ganglia calcification | 14.3% | 1/7 |
| Subcortical white matter calcifications | 14.3% | 1/7 |
| Facial abnormalities | ||
| Abnormality of the ear | 100.0% | 7/7 |
| Microtia | 100.0% | 7/7 |
| Posteriorly rotated ears | 85.7% | 6/7 |
| Low-set, posteriorly rotated ears | 14.3% | 1/7 |
| Microtia, second degree | 14.3% | 1/7 |
| Abnormality of the eye | 42.9% | 3/7 |
| Downslanted palpebral fissures | 28.6% | 2/7 |
| Horizontal eyebrow | 14.3% | 1/7 |
| Hypertelorism | 14.3% | 1/7 |
| Abnormality of the nose | 85.7% | 6/7 |
| Prominent nose | 71.4% | 5/7 |
| Long nose | 14.3% | 1/7 |
| Prominent nasal tip | 14.3% | 1/7 |
| Abnormality of the mouth | 57.1% | 4/7 |
| Micrognathia | 42.9% | 3/7 |
| Thick lower lip vermilion | 14.3% | 1/7 |
| Thick vermilion border | 14.3% | 1/7 |
| Visual and hearing impairments | ||
| Abnormal hearing | 12.5% | 1/8 |
| Hearing impairment | 12.5% | 1/8 |
| Pulmonary | ||
| Abnormality of the lungs | 62.5% | 5/8 |
| Recurrent respiratory infections | 62.5% | 5/8 |
| Asthma | 37.5% | 3/8 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 62.5% | 5/8 |
| Failure to thrive | 62.5% | 5/8 |
| Chronic diarrhea | 12.5% | 1/8 |
| Gluten intolerance | 12.5% | 1/8 |
| Urogenital | ||
| Abnormality of the urogenital system | 37.5% | 3/8 |
| Cryptorchidism | 37.5% | 3/8 |
| Hypospadias | 12.5% | 1/8 |
| Nephrolithiasis | 12.5% | 1/8 |
| Scrotal hypoplasia | 12.5% | 1/8 |
| Skeleton | ||
| Skeletal abnormalities | 85.7% | 6/7 |
| Aplasia/Hypoplasia of the patella | 42.9% | 3/7 |
| Clinodactyly | 42.9% | 3/7 |
| Short phalanx of finger | 42.9% | 3/7 |
| Delayed skeletal maturation | 14.3% | 1/7 |
| Pectus excavatum of inferior sternum | 14.3% | 1/7 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the immune system | 80.0% | 4/5 |
| Neutropenia | 80.0% | 4/5 |