PHGDH
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 33.3% | 1/3 |
| Female | 66.7% | 2/3 |
| Indifferent | 0% | 0/3 |
| Unknown | 0% | 0/3 |
| General | ||
| Birth Length abnormalities | 0% | 0/1 |
| Birth Weight abnormalities | 50.0% | 1/2 |
| < P3 : Small for gestational age | 50.0% | 1/2 |
| Birth Head circumference abnormalities | 100.0% | 3/3 |
| < P3 : Congenital microcephaly | 100.0% | 3/3 |
| Current Height abnormalities | 0% | 0/0 |
| Current Weight abnormalities | 0% | 0/0 |
| Current Head circumference abnormalities | 0% | 0/0 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 3/3 |
| Microcephaly | 100.0% | 3/3 |
| Jaundice | 33.3% | 1/3 |
| Meconium stained amniotic fluid | 33.3% | 1/3 |
| Neonatal sepsis | 33.3% | 1/3 |
| Pneumonia | 33.3% | 1/3 |
| Facial abnormalities | ||
| Abnormality of the ear | 100.0% | 2/2 |
| Edema | 50.0% | 1/2 |
| Large earlobe | 50.0% | 1/2 |
| Low-set ears | 50.0% | 1/2 |
| Abnormality of the eye | 100.0% | 2/2 |
| Proptosis | 100.0% | 2/2 |
| Aplasia/Hypoplasia of the eyelid | 50.0% | 1/2 |
| Microphthalmia | 50.0% | 1/2 |
| Periorbital edema | 50.0% | 1/2 |
| Abnormality of the nose | 100.0% | 3/3 |
| Depressed nasal bridge | 66.7% | 2/3 |
| Flat nasal alae | 66.7% | 2/3 |
| Broad nasal tip | 33.3% | 1/3 |
| Abnormality of the mouth | 100.0% | 2/2 |
| Edema | 50.0% | 1/2 |
| Open mouth | 50.0% | 1/2 |
| Unilateral cleft palate | 50.0% | 1/2 |
| Unilateral cleft lip | 50.0% | 1/2 |
| Skeleton | ||
| Skeletal abnormalities | 100.0% | 3/3 |
| Abnormality of calvarial morphology | 33.3% | 1/3 |
| Abnormality of the skull | 33.3% | 1/3 |
| Ankle contracture | 33.3% | 1/3 |
| Aplasia/Hypoplasia of the phalanges of the hand | 33.3% | 1/3 |
| Aplasia/Hypoplasia involving bones of the feet | 33.3% | 1/3 |
| Aplasia/hypoplasia involving forearm bones | 33.3% | 1/3 |
| Aplasia/hypoplasia involving bones of the hand | 33.3% | 1/3 |
| Bilateral wrist flexion contracture | 33.3% | 1/3 |
| Fetal akinesia sequence | 33.3% | 1/3 |
| Flexion contracture of finger | 33.3% | 1/3 |
| Flexion contracture | 33.3% | 1/3 |
| Hypoplasia of the phalanges of the toes | 33.3% | 1/3 |
| Long fingers | 33.3% | 1/3 |
| Rocker bottom foot | 33.3% | 1/3 |
| Scoliosis | 33.3% | 1/3 |
| Short neck | 33.3% | 1/3 |
| Short stature | 33.3% | 1/3 |
| Sloping forehead | 33.3% | 1/3 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 100.0% | 2/2 |
| Ichthyosis | 100.0% | 2/2 |