| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 75.0% | 6/8 |
| Female | 25.0% | 2/8 |
| General | ||
| Birth Length abnormalities | 0% | 0/8 |
| Birth Weight abnormalities | 0% | 0/8 |
| Birth Head circumference abnormalities | 0% | 0/8 |
| Current Height abnormalities | 37.5% | 3/8 |
| < P3 : Short stature | 37.5% | 3/8 |
| Current Weight abnormalities | 25.0% | 2/8 |
| < P3 : Decreased body weight | 25.0% | 2/8 |
| Current Head circumference abnormalities | 62.5% | 5/8 |
| > P98 : Macrocephaly | 50.0% | 4/8 |
| < P3 : Microcephaly | 12.5% | 1/8 |
| Neurology | ||
| Neurological abnormalities | 28.6% | 2/7 |
| EEG abnormality | 14.3% | 1/7 |
| Seizures | 14.3% | 1/7 |
| Behavioral problems | 71.4% | 5/7 |
| Autism | 28.6% | 2/7 |
| Delayed social development | 14.3% | 1/7 |
| Impaired social interactions | 14.3% | 1/7 |
| Low frustration tolerance | 14.3% | 1/7 |
| Brain abnormality | 66.7% | 4/6 |
| Arachnoid cyst | 16.7% | 1/6 |
| Cerebral white matter atrophy | 16.7% | 1/6 |
| Multifocal cerebral white matter abnormalities | 16.7% | 1/6 |
| Facial abnormalities | ||
| Abnormality of the ear | 28.6% | 2/7 |
| Abnormality of the outer ear | 14.3% | 1/7 |
| Low-set ears | 14.3% | 1/7 |
| Abnormality of the eye | 42.9% | 3/7 |
| Hypertelorism | 28.6% | 2/7 |
| Short palpebral fissure | 14.3% | 1/7 |
| Synophrys | 14.3% | 1/7 |
| Upslanted palpebral fissure | 14.3% | 1/7 |
| Abnormality of the nose | 28.6% | 2/7 |
| Abnormality of the nasal tip | 14.3% | 1/7 |
| Slender nose | 14.3% | 1/7 |
| Abnormality of the mouth | 57.1% | 4/7 |
| Abnormality of upper lip | 28.6% | 2/7 |
| Long philtrum | 28.6% | 2/7 |
| Chin dimple | 14.3% | 1/7 |
| Retrognathia | 14.3% | 1/7 |
| Smooth philtrum | 14.3% | 1/7 |
| Visual and hearing impairments | ||
| Abnormal vision | 28.6% | 2/7 |
| Esotropia | 14.3% | 1/7 |
| Hypermetropia | 14.3% | 1/7 |
| Optic neuritis | 14.3% | 1/7 |
| Unilateral strabismus | 14.3% | 1/7 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 33.3% | 2/6 |
| Chronic diarrhea | 16.7% | 1/6 |
| Feeding difficulties in infancy | 16.7% | 1/6 |
| Gastrostomy tube feeding in infancy | 16.7% | 1/6 |
| Skeleton | ||
| Skeletal abnormalities | 50.0% | 3/6 |
| Abnormality of the radial head | 16.7% | 1/6 |
| Bilateral camptodactyly | 16.7% | 1/6 |
| Bowing of the legs | 16.7% | 1/6 |
| Broad foot | 16.7% | 1/6 |
| Broad palm | 16.7% | 1/6 |
| Clinodactyly of the 5th finger | 16.7% | 1/6 |
| Muscular hypotonia of the trunk | 16.7% | 1/6 |
| Pes planus | 16.7% | 1/6 |
| Scoliosis | 16.7% | 1/6 |
| Shield chest | 16.7% | 1/6 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 16.7% | 1/6 |
| Hemangioma | 16.7% | 1/6 |
| Nevus | 16.7% | 1/6 |