| Gender |
|
|
| Male |
37.5% |
12/32 |
| Female |
62.5% |
20/32 |
| General |
|
|
| Birth Length abnormalities |
0% |
0/32 |
| Birth Weight abnormalities |
6.3% |
2/32 |
| < P3 : Small for gestational age |
6.3% |
2/32 |
| Birth Head circumference abnormalities |
0% |
0/32 |
| Current Height abnormalities |
3.1% |
1/32 |
| < P3 : Short stature |
3.1% |
1/32 |
| Current Weight abnormalities |
6.3% |
2/32 |
| < P3 : Decreased body weight |
6.3% |
2/32 |
| Current Head circumference abnormalities |
9.4% |
3/32 |
| < P3 : Microcephaly |
9.4% |
3/32 |
| Neurology |
|
|
| Neurological abnormalities |
100.0% |
30/30 |
| Global developmental delay |
73.3% |
22/30 |
| Generalized hypotonia |
50.0% |
15/30 |
| Seizure |
33.3% |
10/30 |
| obsolete Central hypotonia |
20.0% |
6/30 |
| Floppy infant |
10.0% |
3/30 |
| Hyperreflexia |
10.0% |
3/30 |
| Areflexia |
6.7% |
2/30 |
| EEG with spike-wave complexes |
6.7% |
2/30 |
| Hyporeflexia |
6.7% |
2/30 |
| Tongue fasciculations |
6.7% |
2/30 |
| Axial muscle weakness |
3.3% |
1/30 |
| Dysphagia |
3.3% |
1/30 |
| Epilepsia partialis continua |
3.3% |
1/30 |
| Febrile seizure (within the age range of 3 months to 6 years) |
3.3% |
1/30 |
| Hemiplegia |
3.3% |
1/30 |
| Hypotonia |
3.3% |
1/30 |
| Lethargy |
3.3% |
1/30 |
| Lower limb hyperreflexia |
3.3% |
1/30 |
| Lower limb spasticity |
3.3% |
1/30 |
| Myoclonus |
3.3% |
1/30 |
| Myopathic facies |
3.3% |
1/30 |
| Severe muscular hypotonia |
3.3% |
1/30 |
| Spastic diplegia |
3.3% |
1/30 |
| Spasticity |
3.3% |
1/30 |
| Status epilepticus |
3.3% |
1/30 |
| Torticollis |
3.3% |
1/30 |
| Behavioral problems |
100.0% |
2/2 |
| Feeding difficulties |
50.0% |
1/2 |
| Sleep disturbance |
50.0% |
1/2 |
| Brain abnormality |
89.5% |
17/19 |
| Microcephaly |
57.9% |
11/19 |
| Delayed myelination |
26.3% |
5/19 |
| Abnormal cerebral white matter morphology |
10.5% |
2/19 |
| Abnormal periventricular white matter morphology |
10.5% |
2/19 |
| Abnormal CNS myelination |
5.3% |
1/19 |
| Aplasia/Hypoplasia of the corpus callosum |
5.3% |
1/19 |
| Basal ganglia calcification |
5.3% |
1/19 |
| Diffuse leukoencephalopathy |
5.3% |
1/19 |
| Encephalopathy |
5.3% |
1/19 |
| Global brain atrophy |
5.3% |
1/19 |
| Leukoencephalopathy |
5.3% |
1/19 |
| Facial abnormalities |
|
|
| Abnormality of the mouth |
100.0% |
1/1 |
| Tented upper lip vermilion |
100.0% |
1/1 |
| Visual and hearing impairments |
|
|
| Abnormal hearing |
100.0% |
24/24 |
| Sensorineural hearing impairment |
95.8% |
23/24 |
| Moderate sensorineural hearing impairment |
4.2% |
1/24 |
| Abnormal vision |
50.0% |
3/6 |
| Abnormal eye physiology |
16.7% |
1/6 |
| Myopia |
16.7% |
1/6 |
| Heart |
|
|
| Abnormality of the heart |
66.7% |
10/15 |
| Heart block |
20.0% |
3/15 |
| Hypertrophic cardiomyopathy |
20.0% |
3/15 |
| Arrhythmia |
13.3% |
2/15 |
| Bradycardia |
6.7% |
1/15 |
| Cardiomegaly |
6.7% |
1/15 |
| Cardiomyopathy |
6.7% |
1/15 |
| obsolete Restrictive heart failure |
6.7% |
1/15 |
| Patent ductus arteriosus |
6.7% |
1/15 |
| Pulmonary |
|
|
| Abnormality of the lungs |
87.5% |
7/8 |
| Respiratory failure |
37.5% |
3/8 |
| Pneumonia |
25.0% |
2/8 |
| Pulmonary arterial hypertension |
25.0% |
2/8 |
| Aspiration pneumonia |
12.5% |
1/8 |
| Pneumothorax |
12.5% |
1/8 |
| Respiratory tract infection |
12.5% |
1/8 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
90.9% |
10/11 |
| Gastrostomy tube feeding in infancy |
45.5% |
5/11 |
| Nasogastric tube feeding in infancy |
36.4% |
4/11 |
| Diarrhea |
9.1% |
1/11 |
| Dysphagia |
9.1% |
1/11 |
| Feeding difficulties |
9.1% |
1/11 |
| Gastroesophageal reflux |
9.1% |
1/11 |
| Urogenital |
|
|
| Abnormality of the urogenital system |
94.4% |
17/18 |
| Renal insufficiency |
50.0% |
9/18 |
| Proteinuria |
11.1% |
2/18 |
| Abnormality of urine homeostasis |
5.6% |
1/18 |
| Chronic kidney disease |
5.6% |
1/18 |
| Cystic renal dysplasia |
5.6% |
1/18 |
| Multicystic kidney dysplasia |
5.6% |
1/18 |
| Nephritis |
5.6% |
1/18 |
| Premature ovarian insufficiency |
5.6% |
1/18 |
| Renal hypoplasia |
5.6% |
1/18 |
| Renal tubular epithelial necrosis |
5.6% |
1/18 |
| Renal tubular dysfunction |
5.6% |
1/18 |
| Reversible renal failure |
5.6% |
1/18 |
| Skeleton |
|
|
| Skeletal abnormalities |
85.7% |
6/7 |
| Equinus calcaneus |
42.9% |
3/7 |
| Bilateral talipes equinovarus |
14.3% |
1/7 |
| Hip dysplasia |
14.3% |
1/7 |
| Hyperextensibility of the knee |
14.3% |
1/7 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
100.0% |
1/1 |
| Pili torti |
100.0% |
1/1 |
| Endocrine / Immunological / Metabolic |
|
|
| Abnormality of the metabolic system |
100.0% |
25/25 |
| Increased circulating lactate concentration |
76.0% |
19/25 |
| Lactic acidosis |
20.0% |
5/25 |
| Metabolic acidosis |
20.0% |
5/25 |
| Abnormal circulating creatine kinase concentration |
4.0% |
1/25 |
| Elevated circulating creatine kinase concentration |
4.0% |
1/25 |
| Fatal liver failure in infancy |
4.0% |
1/25 |
| Hyperkalemia |
4.0% |
1/25 |
| Hyperechogenic pancreas |
4.0% |
1/25 |
| Hypomagnesemia |
4.0% |
1/25 |
| Hyponatremia |
4.0% |
1/25 |
| Increased CSF lactate |
4.0% |
1/25 |
| Abnormality of the immune system |
100.0% |
1/1 |
| Enterocolitis |
100.0% |
1/1 |