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 | 0% | 0/1 |
Neurology | ||
Neurological abnormalities | 100.0% | 1/1 |
Intellectual disability, profound | 100.0% | 1/1 |
Seizures | 100.0% | 1/1 |
Facial abnormalities | ||
Abnormality of the eye | 100.0% | 1/1 |
Prominent epicanthal folds | 100.0% | 1/1 |
Abnormality of the nose | 100.0% | 1/1 |
Depressed nasal bridge | 100.0% | 1/1 |
Short columella | 100.0% | 1/1 |
Abnormality of the mouth | 100.0% | 1/1 |
Downturned corners of mouth | 100.0% | 1/1 |
Gingival overgrowth | 100.0% | 1/1 |
Skeleton | ||
Skeletal abnormalities | 100.0% | 1/1 |
Aplasia/Hypoplasia of the distal phalanges of the hand | 100.0% | 1/1 |
Pseudoepiphyses of hand bones | 100.0% | 1/1 |
Wide tufts of distal phalanges | 100.0% | 1/1 |
Skin / Hair / Nails | ||
Abnormality of the skin/hair/nails | 100.0% | 1/1 |
Aplastic/hypoplastic toenail | 100.0% | 1/1 |
Hypoplastic fingernail | 100.0% | 1/1 |