PIGM
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 100.0% | 1/1 |
| Female | 0% | 0/1 |
| Indifferent | 0% | 0/1 |
| Unknown | 0% | 0/1 |
| General | ||
| Birth Length abnormalities | 0% | 0/1 |
| Birth Weight abnormalities | 0% | 0/1 |
| Birth Head circumference abnormalities | 0% | 0/1 |
| Current Height abnormalities | 0% | 0/1 |
| Current Weight abnormalities | 0% | 0/1 |
| Current Head circumference abnormalities | 100.0% | 1/1 |
| < P3 : Microcephaly | 100.0% | 1/1 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 1/1 |
| Epileptic encephalopathy | 100.0% | 1/1 |
| Hypertonia | 100.0% | 1/1 |
| Neurodevelopmental delay | 100.0% | 1/1 |
| Seizure | 100.0% | 1/1 |
| Status epilepticus | 100.0% | 1/1 |
| Brain abnormality | 100.0% | 1/1 |
| Abnormal cerebral white matter morphology | 100.0% | 1/1 |
| Facial abnormalities | ||
| Abnormality of the ear | 100.0% | 1/1 |
| Macrotia | 100.0% | 1/1 |
| Abnormality of the eye | 100.0% | 1/1 |
| Synophrys | 100.0% | 1/1 |
| Upslanted palpebral fissure | 100.0% | 1/1 |
| Abnormality of the mouth | 100.0% | 1/1 |
| Retrognathia | 100.0% | 1/1 |
| Visual and hearing impairments | ||
| Abnormal hearing | 100.0% | 1/1 |
| Sensorineural hearing impairment | 100.0% | 1/1 |
| Abnormal vision | 100.0% | 1/1 |
| Visual impairment | 100.0% | 1/1 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 100.0% | 1/1 |
| Hepatomegaly | 100.0% | 1/1 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 100.0% | 1/1 |
| Aplasia/Hypoplasia of the nails | 100.0% | 1/1 |
| Mixed hypo- and hyperpigmentation of the skin | 100.0% | 1/1 |
| Single transverse palmar crease | 100.0% | 1/1 |