| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 75.0% | 3/4 |
| Female | 25.0% | 1/4 |
| Indifferent | 0% | 0/4 |
| Unknown | 0% | 0/4 |
| General | ||
| Birth Length abnormalities | 0% | 0/4 |
| Birth Weight abnormalities | 0% | 0/4 |
| Birth Head circumference abnormalities | 0% | 0/4 |
| Current Height abnormalities | 50.0% | 2/4 |
| < P3 : Short stature | 50.0% | 2/4 |
| Current Weight abnormalities | 50.0% | 2/4 |
| < P3 : Decreased body weight | 50.0% | 2/4 |
| Current Head circumference abnormalities | 75.0% | 3/4 |
| < P3 : Microcephaly | 75.0% | 3/4 |
| Neurology | ||
| Neurological abnormalities | 75.0% | 3/4 |
| Dysphagia | 75.0% | 3/4 |
| Difficulty walking | 50.0% | 2/4 |
| Difficulty standing | 25.0% | 1/4 |
| Generalized tonic-clonic seizures | 25.0% | 1/4 |
| Muscular hypotonia | 25.0% | 1/4 |
| Syringomyelia | 25.0% | 1/4 |
| Behavioral problems | 75.0% | 3/4 |
| Self-mutilation | 50.0% | 2/4 |
| Abnormal social behavior | 25.0% | 1/4 |
| Absent speech | 25.0% | 1/4 |
| Autism | 25.0% | 1/4 |
| Fatigue | 25.0% | 1/4 |
| Repetitive compulsive behavior | 25.0% | 1/4 |
| Sleep disturbance | 25.0% | 1/4 |
| Brain abnormality | 100.0% | 2/2 |
| Abnormality of the cerebral ventricles | 50.0% | 1/2 |
| Delayed myelination | 50.0% | 1/2 |
| Hypoplasia of the corpus callosum | 50.0% | 1/2 |
| Ventriculomegaly | 50.0% | 1/2 |
| Urogenital | ||
| Abnormality of the urogenital system | 75.0% | 3/4 |
| Male hypogonadism | 50.0% | 2/4 |
| Micropenis | 50.0% | 2/4 |
| Cryptorchidism | 25.0% | 1/4 |
| Skeleton | ||
| Skeletal abnormalities | 75.0% | 3/4 |
| Clinodactyly of the 5th finger | 50.0% | 2/4 |
| Short finger | 50.0% | 2/4 |
| Small hand | 50.0% | 2/4 |
| Kyphosis | 25.0% | 1/4 |
| Scoliosis | 25.0% | 1/4 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 75.0% | 3/4 |
| Hypothyroidism | 75.0% | 3/4 |
| Abnormality of the immune system | 50.0% | 2/4 |
| Recurrent infections | 25.0% | 1/4 |
| Thrombocytosis | 25.0% | 1/4 |