| Gender |
|
|
| Male |
42.9% |
3/7 |
| Female |
57.1% |
4/7 |
| Neurology |
|
|
| Neurological abnormalities |
50.0% |
2/4 |
| Dysphagia |
50.0% |
2/4 |
| Gowers sign |
50.0% |
2/4 |
| Abnormality of muscle size |
25.0% |
1/4 |
| Areflexia |
25.0% |
1/4 |
| Brisk reflexes |
25.0% |
1/4 |
| Lower limb muscle weakness |
25.0% |
1/4 |
| Muscular hypotonia of the trunk |
25.0% |
1/4 |
| Neck flexor weakness |
25.0% |
1/4 |
| Upper limb muscle weakness |
25.0% |
1/4 |
| Waddling gait |
25.0% |
1/4 |
| Weak voice |
25.0% |
1/4 |
| Brain abnormality |
100.0% |
1/1 |
| Abnormality of the cerebrospinal fluid |
100.0% |
1/1 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
16.7% |
1/6 |
| Low-set ears |
16.7% |
1/6 |
| Abnormality of the eye |
71.4% |
5/7 |
| Downslanted palpebral fissures |
42.9% |
3/7 |
| Ptosis |
42.9% |
3/7 |
| Esotropia |
14.3% |
1/7 |
| Proptosis |
14.3% |
1/7 |
| Short palpebral fissure |
14.3% |
1/7 |
| Telecanthus |
14.3% |
1/7 |
| Underdeveloped supraorbital ridges |
14.3% |
1/7 |
| Abnormality of the mouth |
100.0% |
6/6 |
| Median cleft palate |
50.0% |
3/6 |
| Mandibular prognathia |
33.3% |
2/6 |
| Narrow jaw |
33.3% |
2/6 |
| Tented upper lip vermilion |
16.7% |
1/6 |
| Heart |
|
|
| Abnormality of the heart |
16.7% |
1/6 |
| Patent foramen ovale |
16.7% |
1/6 |
| Pulmonary hypertension |
16.7% |
1/6 |
| Tricuspid regurgitation |
16.7% |
1/6 |
| Pulmonary |
|
|
| Abnormality of the lungs |
100.0% |
7/7 |
| Abnormality of the diaphragm |
57.1% |
4/7 |
| Pulmonary hypoplasia |
42.9% |
3/7 |
| Hypercapnia |
28.6% |
2/7 |
| Respiratory failure |
28.6% |
2/7 |
| Diaphragmatic eventration |
14.3% |
1/7 |
| Dyspnea |
14.3% |
1/7 |
| Pneumonia |
14.3% |
1/7 |
| Respiratory distress |
14.3% |
1/7 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
14.3% |
1/7 |
| Decreased liver function |
14.3% |
1/7 |
| Urogenital |
|
|
| Abnormality of the urogenital system |
28.6% |
2/7 |
| Cryptorchidism |
28.6% |
2/7 |
| Dilatation of the renal pelvis |
14.3% |
1/7 |
| Hydronephrosis |
14.3% |
1/7 |
| Renal duplication |
14.3% |
1/7 |
| Skeleton |
|
|
| Skeletal abnormalities |
100.0% |
7/7 |
| Distal arthrogryposis |
28.6% |
2/7 |
| Overlapping toe |
28.6% |
2/7 |
| Pectus excavatum |
28.6% |
2/7 |
| Abnormality of the scapula |
14.3% |
1/7 |
| Abnormality of the costochondral junction |
14.3% |
1/7 |
| Clinodactyly of the 5th finger |
14.3% |
1/7 |
| Hand clenching |
14.3% |
1/7 |
| Interphalangeal joint contracture of finger |
14.3% |
1/7 |
| Joint contracture of the hand |
14.3% |
1/7 |
| Knee flexion contracture |
14.3% |
1/7 |
| Narrow chest |
14.3% |
1/7 |
| Overlapping fingers |
14.3% |
1/7 |
| Small hand |
14.3% |
1/7 |
| Tapered finger |
14.3% |
1/7 |
| Thoracic kyphoscoliosis |
14.3% |
1/7 |
| Toe clinodactyly |
14.3% |
1/7 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
14.3% |
1/7 |
| Generalized hypertrichosis |
14.3% |
1/7 |
| Long eyelashes |
14.3% |
1/7 |
| Endocrine / Immunological / Metabolic |
|
|
| Abnormality of the immune system |
25.0% |
1/4 |
| Recurrent respiratory infections |
25.0% |
1/4 |