| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 25.0% | 2/8 |
| Female | 75.0% | 6/8 |
| General | ||
| Birth Length abnormalities | 0% | 0/8 |
| Birth Weight abnormalities | 0% | 0/8 |
| Birth Head circumference abnormalities | 0% | 0/8 |
| Current Height abnormalities | 0% | 0/8 |
| Current Weight abnormalities | 25.0% | 2/8 |
| < P3 : Decreased body weight | 25.0% | 2/8 |
| Current Head circumference abnormalities | 0% | 0/8 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 8/8 |
| Central hypotonia | 100.0% | 8/8 |
| Seizures | 37.5% | 3/8 |
| Epileptic encephalopathy | 25.0% | 2/8 |
| Hyperkinesis | 12.5% | 1/8 |
| Infantile spasms | 12.5% | 1/8 |
| Limb hypertonia | 12.5% | 1/8 |
| Progressive spasticity | 12.5% | 1/8 |
| Brain abnormality | 75.0% | 6/8 |
| Aplasia/Hypoplasia of the corpus callosum | 50.0% | 4/8 |
| Aplasia of the falx cerebri | 37.5% | 3/8 |
| Cerebral atrophy | 37.5% | 3/8 |
| Perisylvian polymicrogyria | 37.5% | 3/8 |
| Abnormality of the cerebellar vermis | 12.5% | 1/8 |
| Abnormality of the periventricular white matter | 12.5% | 1/8 |
| Aplasia/Hypoplasia of the cerebellar vermis | 12.5% | 1/8 |
| Polymicrogyria | 12.5% | 1/8 |
| Facial abnormalities | ||
| Abnormality of the ear | 100.0% | 8/8 |
| Low-set ears | 100.0% | 8/8 |
| Abnormality of the eye | 25.0% | 2/8 |
| Cortical visual impairment | 12.5% | 1/8 |
| Microphthalmia | 12.5% | 1/8 |
| Abnormality of the mouth | 87.5% | 7/8 |
| Open mouth | 75.0% | 6/8 |
| Downturned corners of mouth | 12.5% | 1/8 |
| Visual and hearing impairments | ||
| Abnormal hearing | 71.4% | 5/7 |
| Hearing impairment | 42.9% | 3/7 |
| Childhood onset sensorineural hearing impairment | 14.3% | 1/7 |
| Chronic otitis media | 14.3% | 1/7 |
| Abnormal vision | 71.4% | 5/7 |
| Cortical visual impairment | 57.1% | 4/7 |
| Visual impairment | 14.3% | 1/7 |
| Heart | ||
| Abnormality of the heart | 50.0% | 4/8 |
| Coarctation of aorta | 12.5% | 1/8 |
| Hypoplastic left heart | 12.5% | 1/8 |
| Patent foramen ovale | 12.5% | 1/8 |
| Primum atrial septal defect | 12.5% | 1/8 |
| Secundum atrial septal defect | 12.5% | 1/8 |
| Ventricular septal defect | 12.5% | 1/8 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 87.5% | 7/8 |
| Gastroesophageal reflux | 62.5% | 5/8 |
| Dysphagia | 50.0% | 4/8 |
| Anteriorly placed anus | 25.0% | 2/8 |
| Chronic constipation | 25.0% | 2/8 |
| Gastrostomy tube feeding in infancy | 12.5% | 1/8 |
| Pyloric stenosis | 12.5% | 1/8 |
| Urogenital | ||
| Abnormality of the urogenital system | 50.0% | 4/8 |
| Recurrent urinary tract infections | 25.0% | 2/8 |
| Cryptorchidism | 12.5% | 1/8 |
| Hydronephrosis | 12.5% | 1/8 |
| Renal hypoplasia | 12.5% | 1/8 |
| Unilateral renal agenesis | 12.5% | 1/8 |
| Vesicoureteral reflux | 12.5% | 1/8 |
| Skeleton | ||
| Skeletal abnormalities | 87.5% | 7/8 |
| Scoliosis | 37.5% | 3/8 |
| Cervical spinal canal stenosis | 12.5% | 1/8 |
| Finger joint hypermobility | 12.5% | 1/8 |
| Hip dysplasia | 12.5% | 1/8 |
| Sagittal craniosynostosis | 12.5% | 1/8 |
| Short phalanx of finger | 12.5% | 1/8 |