| Gender |
|
|
| Male |
33.3% |
2/6 |
| Female |
66.7% |
4/6 |
| General |
|
|
| Birth Length abnormalities |
16.7% |
1/6 |
| < P3 : Birth length less than 3rd percentile |
16.7% |
1/6 |
| Birth Weight abnormalities |
16.7% |
1/6 |
| < P3 : Small for gestational age |
16.7% |
1/6 |
| Birth Head circumference abnormalities |
16.7% |
1/6 |
| < P3 : Congenital microcephaly |
16.7% |
1/6 |
| Current Height abnormalities |
16.7% |
1/6 |
| < P3 : Short stature |
16.7% |
1/6 |
| Current Weight abnormalities |
0% |
0/6 |
| Current Head circumference abnormalities |
16.7% |
1/6 |
| < P3 : Microcephaly |
16.7% |
1/6 |
| Neurology |
|
|
| Neurological abnormalities |
100.0% |
6/6 |
| Seizures |
66.7% |
4/6 |
| Generalized hypotonia |
50.0% |
3/6 |
| Muscular hypotonia |
33.3% |
2/6 |
| EEG with focal epileptiform discharges |
16.7% |
1/6 |
| Epileptic encephalopathy |
16.7% |
1/6 |
| Microcephaly |
16.7% |
1/6 |
| Multifocal epileptiform discharges |
16.7% |
1/6 |
| Reduced tendon reflexes |
16.7% |
1/6 |
| Brain abnormality |
83.3% |
5/6 |
| Abnormality of the corpus callosum |
50.0% |
3/6 |
| Cerebral atrophy |
50.0% |
3/6 |
| Microcephaly |
50.0% |
3/6 |
| Abnormality of the basal ganglia |
16.7% |
1/6 |
| Cerebral hypomyelination |
16.7% |
1/6 |
| Frontotemporal cerebral atrophy |
16.7% |
1/6 |
| Facial abnormalities |
|
|
| Abnormality of the eye |
100.0% |
1/1 |
| Strabismus |
100.0% |
1/1 |
| Visual and hearing impairments |
|
|
| Abnormal hearing |
20.0% |
1/5 |
| Hyperacusis |
20.0% |
1/5 |
| Abnormal vision |
83.3% |
5/6 |
| Abnormality of eye movement |
50.0% |
3/6 |
| Abnormality of vision |
33.3% |
2/6 |
| Heart |
|
|
| Abnormality of the heart |
25.0% |
1/4 |
| Hypertrophic cardiomyopathy |
25.0% |
1/4 |
| Pulmonary |
|
|
| Abnormality of the lungs |
80.0% |
4/5 |
| Apnea |
40.0% |
2/5 |
| Laryngomalacia |
20.0% |
1/5 |
| Pulmonary artery stenosis |
20.0% |
1/5 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
100.0% |
5/5 |
| Exocrine pancreatic insufficiency |
60.0% |
3/5 |
| Gastroesophageal reflux |
60.0% |
3/5 |
| Vomiting |
40.0% |
2/5 |
| Abnormal vascular physiology |
20.0% |
1/5 |
| Constipation |
20.0% |
1/5 |
| Dysphagia |
20.0% |
1/5 |
| Irritability |
20.0% |
1/5 |
| Morphological abnormality of the gastrointestinal tract |
20.0% |
1/5 |
| Urogenital |
|
|
| Abnormality of the urogenital system |
50.0% |
1/2 |
| Cryptorchidism |
50.0% |
1/2 |
| Micropenis |
50.0% |
1/2 |
| Endocrine / Immunological / Metabolic |
|
|
| Abnormality of the endocrine system |
100.0% |
4/4 |
| Abnormality of circulating cortisol level |
25.0% |
1/4 |
| Abnormal serum insulin-like growth factor 1 level |
25.0% |
1/4 |
| Abnormal C-peptide level |
25.0% |
1/4 |
| Abnormality of circulating hormone level |
25.0% |
1/4 |
| Decreased serum insulin-like growth factor 1 |
25.0% |
1/4 |
| Decreased circulating cortisol level |
25.0% |
1/4 |
| Abnormality of the metabolic system |
100.0% |
5/5 |
| Abnormality of metabolism/homeostasis |
120.0% |
6/5 |
| Hypoglycemia |
40.0% |
2/5 |
| Abnormality of circulating protein level |
20.0% |
1/5 |
| Abnormal insulin level |
20.0% |
1/5 |
| Abnormality of exocrine pancreas physiology |
20.0% |
1/5 |
| Abnormal circulating insulin level |
20.0% |
1/5 |
| Metabolic acidosis |
20.0% |
1/5 |
| Nonketotic hypoglycemia |
20.0% |
1/5 |
| Reduced C-peptide level |
20.0% |
1/5 |
| Abnormality of the immune system |
100.0% |
2/2 |
| Hyperthyroidism |
100.0% |
2/2 |