PAX7
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 50.0% | 3/6 |
| Female | 50.0% | 3/6 |
| Indifferent | 0% | 0/6 |
| Unknown | 0% | 0/6 |
| General | ||
| Birth Length abnormalities | 0% | 0/6 |
| Birth Weight abnormalities | 0% | 0/6 |
| Birth Head circumference abnormalities | 0% | 0/6 |
| Current Height abnormalities | 16.7% | 1/6 |
| < P3 : Short stature | 16.7% | 1/6 |
| Current Weight abnormalities | 16.7% | 1/6 |
| < P3 : Decreased body weight | 16.7% | 1/6 |
| Current Head circumference abnormalities | 0% | 0/6 |
| Neurology | ||
| Neurological abnormalities | 100.0% | 6/6 |
| Infantile axial hypotonia | 66.7% | 4/6 |
| Generalized hypotonia | 50.0% | 3/6 |
| Areflexia | 33.3% | 2/6 |
| Distal muscle weakness | 33.3% | 2/6 |
| Dysphagia | 16.7% | 1/6 |
| Limb muscle weakness | 16.7% | 1/6 |
| Myopathy | 16.7% | 1/6 |
| Waddling gait | 16.7% | 1/6 |
| Behavioral problems | 16.7% | 1/6 |
| Attention deficit hyperactivity disorder | 16.7% | 1/6 |
| Brain abnormality | 40.0% | 2/5 |
| Delayed CNS myelination | 20.0% | 1/5 |
| Focal seizures | 20.0% | 1/5 |
| Facial abnormalities | ||
| Abnormality of the ear | 33.3% | 2/6 |
| Low-set ears | 16.7% | 1/6 |
| Posteriorly rotated ears | 16.7% | 1/6 |
| Abnormality of the eye | 100.0% | 5/5 |
| Ptosis | 100.0% | 5/5 |
| Abnormality of the nose | 16.7% | 1/6 |
| Depressed nasal ridge | 16.7% | 1/6 |
| Abnormality of the mouth | 40.0% | 2/5 |
| High palate | 40.0% | 2/5 |
| Micrognathia | 20.0% | 1/5 |
| Visual and hearing impairments | ||
| Abnormal hearing | 16.7% | 1/6 |
| Conductive hearing impairment | 16.7% | 1/6 |
| Abnormal vision | 16.7% | 1/6 |
| Gaze-evoked nystagmus | 16.7% | 1/6 |
| Vertical nystagmus | 16.7% | 1/6 |
| Heart | ||
| Abnormality of the heart | 20.0% | 1/5 |
| Hypertension | 20.0% | 1/5 |
| Pulmonary | ||
| Abnormality of the lungs | 16.7% | 1/6 |
| Diaphragmatic eventration | 16.7% | 1/6 |
| Respiratory insufficiency | 16.7% | 1/6 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 33.3% | 2/6 |
| Gastrostomy tube feeding in infancy | 16.7% | 1/6 |
| Intestinal pseudo-obstruction | 16.7% | 1/6 |
| Urogenital | ||
| Abnormality of the urogenital system | 33.3% | 2/6 |
| Cryptorchidism | 16.7% | 1/6 |
| Cystocele | 16.7% | 1/6 |
| Hydronephrosis | 16.7% | 1/6 |
| Renal atrophy | 16.7% | 1/6 |
| Skeleton | ||
| Skeletal abnormalities | 100.0% | 6/6 |
| Scoliosis | 83.3% | 5/6 |
| Bell-shaped thorax | 16.7% | 1/6 |
| Flexion contracture | 16.7% | 1/6 |
| Thoracolumbar scoliosis | 16.7% | 1/6 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the endocrine system | 16.7% | 1/6 |
| Hypogonadism | 16.7% | 1/6 |