| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 50.0% | 4/8 |
| Female | 50.0% | 4/8 |
| General | ||
| Birth Length abnormalities | 0% | 0/8 |
| Birth Weight abnormalities | 0% | 0/8 |
| Birth Head circumference abnormalities | 0% | 0/8 |
| Current Height abnormalities | 12.5% | 1/8 |
| < P3 : Short stature | 12.5% | 1/8 |
| Current Weight abnormalities | 37.5% | 3/8 |
| < P3 : Decreased body weight | 37.5% | 3/8 |
| Current Head circumference abnormalities | 50.0% | 4/8 |
| < P3 : Microcephaly | 37.5% | 3/8 |
| > P98 : Macrocephaly | 12.5% | 1/8 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 8/8 |
| Central hypotonia | 75.0% | 6/8 |
| Ataxia | 37.5% | 3/8 |
| Abnormality of pain sensation | 25.0% | 2/8 |
| Abnormal muscle tone | 25.0% | 2/8 |
| Absence seizures | 25.0% | 2/8 |
| Broad-based gait | 25.0% | 2/8 |
| Generalized tonic-clonic seizures | 25.0% | 2/8 |
| Progressive spasticity | 25.0% | 2/8 |
| Abnormality of movement | 12.5% | 1/8 |
| Atypical absence seizures | 12.5% | 1/8 |
| Generalized seizures | 12.5% | 1/8 |
| Inability to walk | 12.5% | 1/8 |
| Infantile spasms | 12.5% | 1/8 |
| Motor tics | 12.5% | 1/8 |
| Movement abnormality of the tongue | 12.5% | 1/8 |
| Muscular hypotonia | 12.5% | 1/8 |
| Peripheral neuropathy | 12.5% | 1/8 |
| Spasticity | 12.5% | 1/8 |
| Tongue thrusting | 12.5% | 1/8 |
| Behavioral problems | 87.5% | 7/8 |
| Autism | 62.5% | 5/8 |
| Absent speech | 12.5% | 1/8 |
| Autistic behavior | 12.5% | 1/8 |
| Hyperactivity | 12.5% | 1/8 |
| Insomnia | 12.5% | 1/8 |
| Paroxysmal bursts of laughter | 12.5% | 1/8 |
| Pica | 12.5% | 1/8 |
| Self-mutilation | 12.5% | 1/8 |
| Stereotypic behavior | 12.5% | 1/8 |
| Tics | 12.5% | 1/8 |
| Brain abnormality | 25.0% | 2/8 |
| Aplasia/Hypoplasia of the cerebral white matter | 12.5% | 1/8 |
| Cavum septum pellucidum | 12.5% | 1/8 |
| Dilation of lateral ventricles | 12.5% | 1/8 |
| Facial abnormalities | ||
| Abnormality of the eye | 85.7% | 6/7 |
| Strabismus | 42.9% | 3/7 |
| Abnormality of the palpebral fissures | 14.3% | 1/7 |
| Broad eyebrow | 14.3% | 1/7 |
| Synophrys | 14.3% | 1/7 |
| Abnormality of the nose | 42.9% | 3/7 |
| Broad nasal tip | 42.9% | 3/7 |
| Broad eyebrow | 14.3% | 1/7 |
| Abnormality of the mouth | 57.1% | 4/7 |
| Widely spaced teeth | 42.9% | 3/7 |
| High, narrow palate | 28.6% | 2/7 |
| Visual and hearing impairments | ||
| Abnormal hearing | 12.5% | 1/8 |
| Recurrent otitis media | 12.5% | 1/8 |
| Abnormal vision | 37.5% | 3/8 |
| Strabismus | 37.5% | 3/8 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 87.5% | 7/8 |
| Constipation | 50.0% | 4/8 |
| Gastroesophageal reflux | 50.0% | 4/8 |
| Cow milk allergy | 12.5% | 1/8 |
| Dysphagia | 12.5% | 1/8 |
| Failure to thrive | 12.5% | 1/8 |
| Feeding difficulties | 12.5% | 1/8 |
| Feeding difficulties in infancy | 12.5% | 1/8 |
| Protracted diarrhea | 12.5% | 1/8 |
| Ulcerative colitis | 12.5% | 1/8 |
| Vomiting | 12.5% | 1/8 |
| Skeleton | ||
| Skeletal abnormalities | 25.0% | 2/8 |
| Talipes equinovarus | 12.5% | 1/8 |
| Thoracolumbar scoliosis | 12.5% | 1/8 |
| Valgus foot deformity | 12.5% | 1/8 |