| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 50.0% | 1/2 |
| Female | 50.0% | 1/2 |
| General | ||
| Birth Length abnormalities | 0% | 0/0 |
| Birth Weight abnormalities | 0% | 0/0 |
| Birth Head circumference abnormalities | 0% | 0/0 |
| Current Height abnormalities | 0% | 0/2 |
| Current Weight abnormalities | 0% | 0/2 |
| Current Head circumference abnormalities | 100.0% | 2/2 |
| < P3 : Microcephaly | 100.0% | 2/2 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 1/1 |
| Central hypotonia | 100.0% | 1/1 |
| Limb hypertonia | 100.0% | 1/1 |
| Seizures | 100.0% | 1/1 |
| Brain abnormality | 100.0% | 1/1 |
| Hydrocephalus | 100.0% | 1/1 |
| Intracerebral periventricular calcifications | 100.0% | 1/1 |
| Visual and hearing impairments | ||
| Abnormal vision | 50.0% | 1/2 |
| Optic atrophy | 50.0% | 1/2 |
| Visual impairment | 50.0% | 1/2 |
| Skeleton | ||
| Skeletal abnormalities | 100.0% | 2/2 |
| Absent distal phalanges | 50.0% | 1/2 |
| Aplasia/Hypoplasia of toe | 50.0% | 1/2 |
| Aplasia/Hypoplasia of the middle phalanges of the toes | 50.0% | 1/2 |
| Aplasia/Hypoplasia of fingers | 50.0% | 1/2 |
| Aplasia/Hypoplasia of the middle phalanges of the hand | 50.0% | 1/2 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 100.0% | 2/2 |
| Aplasia cutis congenita of scalp | 100.0% | 2/2 |
| Abnormality of the palmar creases | 50.0% | 1/2 |