HID1
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 57.1% | 4/7 |
| Female | 42.9% | 3/7 |
| Indifferent | 0% | 0/7 |
| Unknown | 0% | 0/7 |
| General | ||
| Birth Length abnormalities | 14.3% | 1/7 |
| < P3 : Birth length less than 3rd percentile | 14.3% | 1/7 |
| Birth Weight abnormalities | 0% | 0/7 |
| Birth Head circumference abnormalities | 14.3% | 1/7 |
| < P3 : Primary microcephaly | 14.3% | 1/7 |
| Current Height abnormalities | 57.1% | 4/7 |
| < P3 : Short stature | 57.1% | 4/7 |
| Current Weight abnormalities | 57.1% | 4/7 |
| < P3 : Decreased body weight | 57.1% | 4/7 |
| Current Head circumference abnormalities | 100.0% | 7/7 |
| < P3 : Microcephaly | 100.0% | 7/7 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 7/7 |
| Bilateral tonic-clonic seizure | 85.7% | 6/7 |
| Hypotonia | 85.7% | 6/7 |
| EEG with generalized slow activity | 57.1% | 4/7 |
| Generalized myoclonic seizure | 57.1% | 4/7 |
| Seizure | 57.1% | 4/7 |
| EEG with focal slow activity | 28.6% | 2/7 |
| EEG with generalized sharp slow waves | 28.6% | 2/7 |
| EEG with focal sharp slow waves | 28.6% | 2/7 |
| Focal autonomic seizure | 28.6% | 2/7 |
| Focal impaired awareness seizure | 28.6% | 2/7 |
| Generalized tonic seizure | 28.6% | 2/7 |
| Hypoglycemic seizures | 28.6% | 2/7 |
| Hypsarrhythmia | 28.6% | 2/7 |
| Spasticity | 28.6% | 2/7 |
| EEG with focal spike waves | 14.3% | 1/7 |
| Focal tonic seizure | 14.3% | 1/7 |
| Brain abnormality | 100.0% | 7/7 |
| Abnormal corpus callosum morphology | 85.7% | 6/7 |
| Small pituitary gland | 85.7% | 6/7 |
| Brain atrophy | 57.1% | 4/7 |
| Facial abnormalities | ||
| Abnormality of the eye | 66.7% | 4/6 |
| Hypertelorism | 50.0% | 3/6 |
| Abnormal visual fixation | 16.7% | 1/6 |
| Epicanthus | 16.7% | 1/6 |
| Strabismus | 16.7% | 1/6 |
| Visual and hearing impairments | ||
| Abnormal vision | 100.0% | 2/2 |
| Nystagmus | 100.0% | 2/2 |
| Retinal dystrophy | 50.0% | 1/2 |
| Heart | ||
| Abnormality of the heart | 100.0% | 1/1 |
| Cardiomyopathy | 100.0% | 1/1 |
| Dilated cardiomyopathy | 100.0% | 1/1 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 100.0% | 1/1 |
| Constipation | 100.0% | 1/1 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 100.0% | 7/7 |
| Synophrys | 85.7% | 6/7 |
| Long eyelashes | 71.4% | 5/7 |
| Hypertrichosis | 28.6% | 2/7 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 100.0% | 7/7 |
| Hypopituitarism | 100.0% | 7/7 |
| Panhypopituitarism | 100.0% | 7/7 |
| Delayed puberty | 14.3% | 1/7 |