| Gender |
|
|
| Male |
41.7% |
15/36 |
| Female |
58.3% |
21/36 |
| General |
|
|
| Birth Length abnormalities |
5.4% |
2/37 |
| > P98 : Birth length greater than 97th percentile |
2.7% |
1/37 |
| < P3 : Birth length less than 3rd percentile |
2.7% |
1/37 |
| Birth Weight abnormalities |
13.5% |
5/37 |
| < P3 : Small for gestational age |
10.8% |
4/37 |
| > P98 : Large for gestational age |
2.7% |
1/37 |
| Birth Head circumference abnormalities |
10.8% |
4/37 |
| > P98 : Macrocephaly at birth |
10.8% |
4/37 |
| Current Height abnormalities |
27.0% |
10/37 |
| < P3 : Short stature |
27.0% |
10/37 |
| Current Weight abnormalities |
13.5% |
5/37 |
| < P3 : Decreased body weight |
13.5% |
5/37 |
| Current Head circumference abnormalities |
67.6% |
25/37 |
| < P3 : Microcephaly |
67.6% |
25/37 |
| Neurology |
|
|
| Neurological abnormalities |
100.0% |
35/35 |
| Spasticity |
65.7% |
23/35 |
| Muscular hypotonia |
62.9% |
22/35 |
| Seizures |
60.0% |
21/35 |
| Hyperreflexia |
37.1% |
13/35 |
| Dysphagia |
25.7% |
9/35 |
| Flexion contracture |
20.0% |
7/35 |
| Infantile spasms |
14.3% |
5/35 |
| Areflexia |
11.4% |
4/35 |
| Brisk reflexes |
11.4% |
4/35 |
| Epileptic spasms |
11.4% |
4/35 |
| Dyskinesia |
8.6% |
3/35 |
| Dystonia |
8.6% |
3/35 |
| Poor head control |
8.6% |
3/35 |
| Clonus |
5.7% |
2/35 |
| Demyelinating motor neuropathy |
5.7% |
2/35 |
| Generalized neonatal hypotonia |
5.7% |
2/35 |
| Ankle clonus |
2.9% |
1/35 |
| Apnea |
2.9% |
1/35 |
| Arthrogryposis multiplex congenita |
2.9% |
1/35 |
| Bulbar palsy |
2.9% |
1/35 |
| Central hypotonia |
2.9% |
1/35 |
| Demyelinating peripheral neuropathy |
2.9% |
1/35 |
| Facial hypotonia |
2.9% |
1/35 |
| Focal myoclonic seizures |
2.9% |
1/35 |
| Focal tonic seizures |
2.9% |
1/35 |
| Focal motor seizures |
2.9% |
1/35 |
| Generalized hypotonia |
2.9% |
1/35 |
| Generalized myoclonic seizures |
2.9% |
1/35 |
| Hypertonia |
2.9% |
1/35 |
| Infantile axial hypotonia |
2.9% |
1/35 |
| Lower limb spasticity |
2.9% |
1/35 |
| Nystagmus |
2.9% |
1/35 |
| Reduced tendon reflexes |
2.9% |
1/35 |
| Sleep apnea |
2.9% |
1/35 |
| Spastic tetraparesis |
2.9% |
1/35 |
| Tetraplegia |
2.9% |
1/35 |
| Upper limb spasticity |
2.9% |
1/35 |
| Behavioral problems |
50.0% |
2/4 |
| Exaggerated startle response |
25.0% |
1/4 |
| Poor eye contact |
25.0% |
1/4 |
| Brain abnormality |
96.4% |
27/28 |
| Cerebellar atrophy |
50.0% |
14/28 |
| Cerebral atrophy |
39.3% |
11/28 |
| Abnormality of the corpus callosum |
35.7% |
10/28 |
| Delayed myelination |
32.1% |
9/28 |
| Frontal cortical atrophy |
17.9% |
5/28 |
| Cerebral cortical atrophy |
7.1% |
2/28 |
| Hypsarrhythmia |
7.1% |
2/28 |
| Abnormality of the periventricular white matter |
3.6% |
1/28 |
| Abnormality of midbrain morphology |
3.6% |
1/28 |
| Aplasia/Hypoplasia of the cerebellum |
3.6% |
1/28 |
| Cerebellar hemorrhage |
3.6% |
1/28 |
| Dilation of lateral ventricles |
3.6% |
1/28 |
| Focal T2 hyperintense thalamic lesion |
3.6% |
1/28 |
| Gliosis |
3.6% |
1/28 |
| Global brain atrophy |
3.6% |
1/28 |
| Hypointensity of cerebral white matter on MRI |
3.6% |
1/28 |
| Inferior vermis hypoplasia |
3.6% |
1/28 |
| Temporal cortical atrophy |
3.6% |
1/28 |
| Ventriculomegaly |
3.6% |
1/28 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
37.5% |
3/8 |
| Low-set ears |
25.0% |
2/8 |
| Macrotia |
12.5% |
1/8 |
| Abnormality of the eye |
25.0% |
2/8 |
| Epicanthus |
12.5% |
1/8 |
| Hypertelorism |
12.5% |
1/8 |
| Prominent epicanthal folds |
12.5% |
1/8 |
| Abnormality of the nose |
25.0% |
2/8 |
| Depressed nasal bridge |
25.0% |
2/8 |
| Abnormality of the mouth |
50.0% |
4/8 |
| Micrognathia |
25.0% |
2/8 |
| Abnormality of the teeth |
12.5% |
1/8 |
| High, narrow palate |
12.5% |
1/8 |
| Retrognathia |
12.5% |
1/8 |
| Widely spaced teeth |
12.5% |
1/8 |
| Visual and hearing impairments |
|
|
| Abnormal vision |
72.2% |
13/18 |
| Optic atrophy |
22.2% |
4/18 |
| Congenital cataract |
16.7% |
3/18 |
| Cortical visual impairment |
16.7% |
3/18 |
| Esotropia |
11.1% |
2/18 |
| Abnormality of the iris |
5.6% |
1/18 |
| Retinopathy |
5.6% |
1/18 |
| Heart |
|
|
| Abnormality of the heart |
42.9% |
3/7 |
| Cardiac arrest |
28.6% |
2/7 |
| Abnormality of the cardiac septa |
14.3% |
1/7 |
| Arrhythmia |
14.3% |
1/7 |
| Hypertrophic cardiomyopathy |
14.3% |
1/7 |
| Left ventricular hypertrophy |
14.3% |
1/7 |
| Pulmonary |
|
|
| Abnormality of the lungs |
83.3% |
10/12 |
| Respiratory distress |
25.0% |
3/12 |
| Respiratory insufficiency |
25.0% |
3/12 |
| Aspiration |
16.7% |
2/12 |
| Pneumonia |
16.7% |
2/12 |
| Central hypoventilation |
8.3% |
1/12 |
| Recurrent aspiration pneumonia |
8.3% |
1/12 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
57.1% |
4/7 |
| Gastroesophageal reflux |
42.9% |
3/7 |
| Feeding difficulties in infancy |
14.3% |
1/7 |
| Skeleton |
|
|
| Skeletal abnormalities |
90.0% |
18/20 |
| Skeletal muscle atrophy |
35.0% |
7/20 |
| Scoliosis |
15.0% |
3/20 |
| Bilateral talipes equinovarus |
10.0% |
2/20 |
| Knee flexion contracture |
10.0% |
2/20 |
| Kyphoscoliosis |
10.0% |
2/20 |
| Opisthotonus |
10.0% |
2/20 |
| Talipes equinovarus |
10.0% |
2/20 |
| Bell-shaped thorax |
5.0% |
1/20 |
| Deviation of the 3rd toe |
5.0% |
1/20 |
| Distal arthrogryposis |
5.0% |
1/20 |
| Hip contracture |
5.0% |
1/20 |
| Hip dislocation |
5.0% |
1/20 |
| Hip dysplasia |
5.0% |
1/20 |
| Limb joint contracture |
5.0% |
1/20 |
| Limited elbow flexion |
5.0% |
1/20 |
| Muscle fiber hypertrophy |
5.0% |
1/20 |
| Pectus excavatum |
5.0% |
1/20 |
| Short digit |
5.0% |
1/20 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
33.3% |
2/6 |
| Abnormal dermatoglyphics |
16.7% |
1/6 |
| Hirsutism |
16.7% |
1/6 |
| Hypoplastic nipples |
16.7% |
1/6 |