| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 80.0% | 4/5 |
| Female | 20.0% | 1/5 |
| General | ||
| Birth Length abnormalities | 20.0% | 1/5 |
| < P3 : Birth length less than 3rd percentile | 20.0% | 1/5 |
| Birth Weight abnormalities | 0% | 0/5 |
| Birth Head circumference abnormalities | 0% | 0/5 |
| Current Height abnormalities | 40.0% | 2/5 |
| < P3 : Short stature | 40.0% | 2/5 |
| Current Weight abnormalities | 40.0% | 2/5 |
| < P3 : Decreased body weight | 40.0% | 2/5 |
| Current Head circumference abnormalities | 20.0% | 1/5 |
| < P3 : Microcephaly | 20.0% | 1/5 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 5/5 |
| Limb hypertonia | 60.0% | 3/5 |
| Neonatal hypotonia | 40.0% | 2/5 |
| Seizures | 40.0% | 2/5 |
| Cerebral palsy | 20.0% | 1/5 |
| Infantile axial hypotonia | 20.0% | 1/5 |
| Infantile muscular hypotonia | 20.0% | 1/5 |
| Muscular hypotonia | 20.0% | 1/5 |
| Spastic tetraplegia | 20.0% | 1/5 |
| Behavioral problems | 20.0% | 1/5 |
| Aggressive behavior | 20.0% | 1/5 |
| Autism | 20.0% | 1/5 |
| Hair-pulling | 20.0% | 1/5 |
| Insomnia | 20.0% | 1/5 |
| Brain abnormality | 100.0% | 5/5 |
| Absent septum pellucidum | 60.0% | 3/5 |
| Cortical dysplasia | 60.0% | 3/5 |
| Hydrocephalus | 60.0% | 3/5 |
| Polymicrogyria | 60.0% | 3/5 |
| Arnold-Chiari type I malformation | 40.0% | 2/5 |
| Agenesis of corpus callosum | 20.0% | 1/5 |
| Aplasia/Hypoplasia of the cerebral white matter | 20.0% | 1/5 |
| Colpocephaly | 20.0% | 1/5 |
| Corpus callosum atrophy | 20.0% | 1/5 |
| Hypoplasia of the corpus callosum | 20.0% | 1/5 |
| Hypoplasia of the frontal lobes | 20.0% | 1/5 |
| Optic nerve hypoplasia | 20.0% | 1/5 |
| Facial abnormalities | ||
| Abnormality of the ear | 25.0% | 1/4 |
| Cupped ear | 25.0% | 1/4 |
| Abnormality of the eye | 100.0% | 5/5 |
| Hypertelorism | 80.0% | 4/5 |
| Downslanted palpebral fissures | 40.0% | 2/5 |
| Highly arched eyebrow | 40.0% | 2/5 |
| Dermatochalasis | 20.0% | 1/5 |
| Prominent glabella | 20.0% | 1/5 |
| Telecanthus | 20.0% | 1/5 |
| Upslanted palpebral fissure | 20.0% | 1/5 |
| Abnormality of the nose | 80.0% | 4/5 |
| Broad columella | 60.0% | 3/5 |
| Broad nasal tip | 20.0% | 1/5 |
| Broad philtrum | 20.0% | 1/5 |
| Depressed nasal bridge | 20.0% | 1/5 |
| Short philtrum | 20.0% | 1/5 |
| Abnormality of the mouth | 25.0% | 1/4 |
| Dental crowding | 25.0% | 1/4 |
| High palate | 25.0% | 1/4 |
| Macroglossia | 25.0% | 1/4 |
| Thick vermilion border | 25.0% | 1/4 |
| Visual and hearing impairments | ||
| Abnormal vision | 40.0% | 2/5 |
| Esotropia | 20.0% | 1/5 |
| Hypermetropia | 20.0% | 1/5 |
| Myopia | 20.0% | 1/5 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 75.0% | 3/4 |
| Failure to thrive | 50.0% | 2/4 |
| Gastrostomy tube feeding in infancy | 50.0% | 2/4 |
| Gastroesophageal reflux | 25.0% | 1/4 |
| Vomiting | 25.0% | 1/4 |
| Urogenital | ||
| Abnormality of the urogenital system | 20.0% | 1/5 |
| Bilateral cryptorchidism | 20.0% | 1/5 |
| Bilateral renal hypoplasia | 20.0% | 1/5 |
| Skeleton | ||
| Skeletal abnormalities | 100.0% | 5/5 |
| Kyphoscoliosis | 60.0% | 3/5 |
| Brachydactyly syndrome | 40.0% | 2/5 |
| Proximal placement of thumb | 40.0% | 2/5 |
| Abnormality of forearm bone | 20.0% | 1/5 |
| Brachycephaly | 20.0% | 1/5 |
| Clinodactyly of the 5th toe | 20.0% | 1/5 |
| Craniosynostosis | 20.0% | 1/5 |
| Decreased hip abduction | 20.0% | 1/5 |
| Hip dislocation | 20.0% | 1/5 |
| Hip Subluxation | 20.0% | 1/5 |
| Knee flexion contracture | 20.0% | 1/5 |
| Narrow joint spaces of wrist | 20.0% | 1/5 |
| Pes planus | 20.0% | 1/5 |
| Short foot | 20.0% | 1/5 |
| Small hand | 20.0% | 1/5 |
| Small fontanelle | 20.0% | 1/5 |
| Ulnar deviation of the wrist | 20.0% | 1/5 |
| Vertebral compression fractures | 20.0% | 1/5 |
| 2-5 finger syndactyly | 20.0% | 1/5 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 50.0% | 2/4 |
| Bridged palmar crease | 25.0% | 1/4 |
| Capillary hemangiomas | 25.0% | 1/4 |
| Low posterior hairline | 25.0% | 1/4 |
| Supernumerary nipple | 25.0% | 1/4 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 20.0% | 1/5 |
| Decreased plasma carnitine | 20.0% | 1/5 |
| Abnormality of the metabolic system | 20.0% | 1/5 |
| Osteopenia | 20.0% | 1/5 |