| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 66.7% | 4/6 |
| Female | 33.3% | 2/6 |
| General | ||
| Birth Length abnormalities | 0% | 0/6 |
| Birth Weight abnormalities | 16.7% | 1/6 |
| < P3 : Small for gestational age | 16.7% | 1/6 |
| Birth Head circumference abnormalities | 0% | 0/6 |
| Current Height abnormalities | 33.3% | 2/6 |
| < P3 : Short stature | 33.3% | 2/6 |
| Current Weight abnormalities | 0% | 0/6 |
| Current Head circumference abnormalities | 33.3% | 2/6 |
| < P3 : Microcephaly | 33.3% | 2/6 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 2/2 |
| Absent speech | 100.0% | 2/2 |
| Distal amyotrophy | 100.0% | 2/2 |
| Paraplegia/paraparesis | 100.0% | 2/2 |
| Seizures | 100.0% | 2/2 |
| Severe global developmental delay | 100.0% | 2/2 |
| Spastic tetraplegia | 100.0% | 2/2 |
| Brain abnormality | 50.0% | 1/2 |
| Cerebellar hypoplasia | 50.0% | 1/2 |
| Dilated fourth ventricle | 50.0% | 1/2 |
| Facial abnormalities | ||
| Abnormality of the ear | 66.7% | 2/3 |
| Low-set ears | 66.7% | 2/3 |
| Abnormality of the eye | 33.3% | 1/3 |
| Hypertelorism | 33.3% | 1/3 |
| Abnormality of the nose | 33.3% | 1/3 |
| Anteverted nares | 33.3% | 1/3 |
| Depressed nasal bridge | 33.3% | 1/3 |
| Abnormality of the mouth | 33.3% | 1/3 |
| Thin upper lip vermilion | 33.3% | 1/3 |
| Heart | ||
| Abnormality of the heart | 100.0% | 1/1 |
| Abnormality of the diaphragm | 100.0% | 1/1 |
| Skeleton | ||
| Skeletal abnormalities | 100.0% | 6/6 |
| Arthrogryposis multiplex congenita | 66.7% | 4/6 |
| Flexion contracture | 66.7% | 4/6 |
| Flexion contracture of finger | 50.0% | 3/6 |
| Adducted thumb | 33.3% | 2/6 |
| Limitation of knee mobility | 33.3% | 2/6 |
| Talipes equinovarus | 33.3% | 2/6 |
| Wrist flexion contracture | 33.3% | 2/6 |
| Abnormality of the musculature of the limbs | 16.7% | 1/6 |
| Abnormality of muscle size | 16.7% | 1/6 |
| Bilateral talipes equinovarus | 16.7% | 1/6 |
| Camptodactyly | 16.7% | 1/6 |
| Centrally nucleated skeletal muscle fibers | 16.7% | 1/6 |
| Contractures of the joints of the upper limbs | 16.7% | 1/6 |
| Limited elbow flexion | 16.7% | 1/6 |
| Limited elbow flexion/extension | 16.7% | 1/6 |
| Restricted chest movement | 16.7% | 1/6 |
| Talipes valgus | 16.7% | 1/6 |
| Thoracic kyphoscoliosis | 16.7% | 1/6 |
| Ulnar deviation of the hand or of fingers of the hand | 16.7% | 1/6 |
| Upper limb muscle hypoplasia | 16.7% | 1/6 |
| Vertebral segmentation defect | 16.7% | 1/6 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 100.0% | 2/2 |
| Abnormal palmar dermal ridges | 50.0% | 1/2 |
| Axillary pterygia | 50.0% | 1/2 |