Percentage | Cases | |
---|---|---|
Gender | ||
Male | 50.0% | 1/2 |
Female | 50.0% | 1/2 |
Indifferent | 0% | 0/2 |
Unknown | 0% | 0/2 |
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 hand | 50.0% | 1/2 |
Aplasia/Hypoplasia of fingers | 50.0% | 1/2 |
Aplasia/Hypoplasia of the middle phalanges of the toes | 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 |