ALPK3
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 42.9% | 3/7 |
| Female | 57.1% | 4/7 |
| Indifferent | 0% | 0/7 |
| Unknown | 0% | 0/7 |
| General | ||
| Birth Length abnormalities | 14.3% | 1/7 |
| > P98 : Birth length greater than 97th percentile | 14.3% | 1/7 |
| Birth Weight abnormalities | 14.3% | 1/7 |
| < P3 : Small for gestational age | 14.3% | 1/7 |
| Birth Head circumference abnormalities | 14.3% | 1/7 |
| > P98 : Macrocephaly at birth | 14.3% | 1/7 |
| Current Height abnormalities | 57.1% | 4/7 |
| < P3 : Short stature | 42.9% | 3/7 |
| > P98 : Tall stature | 14.3% | 1/7 |
| Current Weight abnormalities | 28.6% | 2/7 |
| < P3 : Decreased body weight | 14.3% | 1/7 |
| > P98 : Increased body weight | 14.3% | 1/7 |
| Current Head circumference abnormalities | 14.3% | 1/7 |
| > P98 : Macrocephaly | 14.3% | 1/7 |
| Neurology | ||
| Neurological abnormalities | 50.0% | 2/4 |
| Contractures of the joints of the lower limbs | 25.0% | 1/4 |
| Distal arthrogryposis | 25.0% | 1/4 |
| Generalized hypotonia | 25.0% | 1/4 |
| Talipes | 25.0% | 1/4 |
| Facial abnormalities | ||
| Abnormality of the ear | 33.3% | 2/6 |
| Low-set ears | 33.3% | 2/6 |
| Abnormality of the eye | 50.0% | 3/6 |
| Hypertelorism | 33.3% | 2/6 |
| Unilateral ptosis | 16.7% | 1/6 |
| Upslanted palpebral fissure | 16.7% | 1/6 |
| Abnormality of the nose | 16.7% | 1/6 |
| Wide nose | 16.7% | 1/6 |
| Abnormality of the mouth | 33.3% | 2/6 |
| Cleft palate | 33.3% | 2/6 |
| Bifid uvula | 16.7% | 1/6 |
| Velopharyngeal insufficiency | 16.7% | 1/6 |
| Heart | ||
| Abnormality of the heart | 100.0% | 7/7 |
| Dilated cardiomyopathy | 71.4% | 5/7 |
| Biventricular hypertrophy | 42.9% | 3/7 |
| Prolonged QTc interval | 28.6% | 2/7 |
| Atrioventricular block | 14.3% | 1/7 |
| Left ventricular hypertrophy | 14.3% | 1/7 |
| Persistent left superior vena cava | 14.3% | 1/7 |
| Secundum atrial septal defect | 14.3% | 1/7 |
| Sinus bradycardia | 14.3% | 1/7 |
| Ventricular fibrillation | 14.3% | 1/7 |
| Ventricular extrasystoles | 14.3% | 1/7 |
| Skeleton | ||
| Skeletal abnormalities | 33.3% | 2/6 |
| Abnormality of the distal phalanges of the toes | 16.7% | 1/6 |
| Aplasia/Hypoplasia of the phalanges of the thumb | 16.7% | 1/6 |
| Kyphoscoliosis | 16.7% | 1/6 |