| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 42.9% | 3/7 |
| Female | 57.1% | 4/7 |
| Indifferent | 0% | 0/7 |
| Unknown | 0% | 0/7 |
| General | ||
| Birth Length abnormalities | 0% | 0/7 |
| Birth Weight abnormalities | 0% | 0/7 |
| Birth Head circumference abnormalities | 0% | 0/7 |
| Current Height abnormalities | 0% | 0/7 |
| Current Weight abnormalities | 28.6% | 2/7 |
| < P3 : Decreased body weight | 28.6% | 2/7 |
| Current Head circumference abnormalities | 42.9% | 3/7 |
| < P3 : Microcephaly | 28.6% | 2/7 |
| > P98 : Macrocephaly | 14.3% | 1/7 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 7/7 |
| Central hypotonia | 85.7% | 6/7 |
| Ataxia | 42.9% | 3/7 |
| Abnormal muscle tone | 28.6% | 2/7 |
| Abnormality of pain sensation | 28.6% | 2/7 |
| Absence seizures | 28.6% | 2/7 |
| Broad-based gait | 28.6% | 2/7 |
| Generalized tonic-clonic seizures | 28.6% | 2/7 |
| Abnormality of movement | 14.3% | 1/7 |
| Atypical absence seizures | 14.3% | 1/7 |
| Infantile spasms | 14.3% | 1/7 |
| Motor tics | 14.3% | 1/7 |
| Movement abnormality of the tongue | 14.3% | 1/7 |
| Peripheral neuropathy | 14.3% | 1/7 |
| Progressive spasticity | 14.3% | 1/7 |
| Spasticity | 14.3% | 1/7 |
| Tongue thrusting | 14.3% | 1/7 |
| Behavioral problems | 85.7% | 6/7 |
| Autism | 57.1% | 4/7 |
| Autistic behavior | 14.3% | 1/7 |
| Hyperactivity | 14.3% | 1/7 |
| Paroxysmal bursts of laughter | 14.3% | 1/7 |
| Pica | 14.3% | 1/7 |
| Stereotypic behavior | 14.3% | 1/7 |
| Brain abnormality | 14.3% | 1/7 |
| Aplasia/Hypoplasia of the cerebral white matter | 14.3% | 1/7 |
| Dilation of lateral ventricles | 14.3% | 1/7 |
| 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 | 14.3% | 1/7 |
| Recurrent otitis media | 14.3% | 1/7 |
| Abnormal vision | 28.6% | 2/7 |
| Strabismus | 28.6% | 2/7 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 85.7% | 6/7 |
| Constipation | 57.1% | 4/7 |
| Gastroesophageal reflux | 42.9% | 3/7 |
| Cow milk allergy | 14.3% | 1/7 |
| Dysphagia | 14.3% | 1/7 |
| Failure to thrive | 14.3% | 1/7 |
| Feeding difficulties in infancy | 14.3% | 1/7 |
| Feeding difficulties | 14.3% | 1/7 |
| Protracted diarrhea | 14.3% | 1/7 |
| Ulcerative colitis | 14.3% | 1/7 |
| Skeleton | ||
| Skeletal abnormalities | 28.6% | 2/7 |
| Talipes equinovarus | 14.3% | 1/7 |
| Thoracolumbar scoliosis | 14.3% | 1/7 |
| Valgus foot deformity | 14.3% | 1/7 |