| Gender |
|
|
| Male |
97.3% |
36/37 |
| Female |
2.7% |
1/37 |
| Indifferent |
0% |
0/37 |
| Unknown |
0% |
0/37 |
| General |
|
|
| Birth Length abnormalities |
5.0% |
1/20 |
| < P3 : Birth length less than 3rd percentile |
5.0% |
1/20 |
| Birth Weight abnormalities |
12.5% |
3/24 |
| < P3 : Small for gestational age |
12.5% |
3/24 |
| Birth Head circumference abnormalities |
0% |
0/22 |
| Current Height abnormalities |
50.0% |
10/20 |
| < P3 : Short stature |
45.0% |
9/20 |
| > P98 : Tall stature |
5.0% |
1/20 |
| Current Weight abnormalities |
36.8% |
7/19 |
| < P3 : Decreased body weight |
36.8% |
7/19 |
| Current Head circumference abnormalities |
30.8% |
8/26 |
| < P3 : Microcephaly |
23.1% |
6/26 |
| > P98 : Macrocephaly |
7.7% |
2/26 |
| Neurology |
|
|
| Neurological abnormalities |
94.4% |
34/36 |
| Generalized hypotonia |
63.9% |
23/36 |
| Seizures |
22.2% |
8/36 |
| Generalized tonic-clonic seizures |
19.4% |
7/36 |
| Ataxia |
13.9% |
5/36 |
| Gait ataxia |
13.9% |
5/36 |
| Generalized myoclonic seizures |
13.9% |
5/36 |
| Atonic seizures |
11.1% |
4/36 |
| Infantile axial hypotonia |
8.3% |
3/36 |
| Lower limb spasticity |
8.3% |
3/36 |
| Spasticity |
8.3% |
3/36 |
| Abnormal pyramidal signs |
5.6% |
2/36 |
| Central hypotonia |
5.6% |
2/36 |
| Dystonia |
5.6% |
2/36 |
| Focal myoclonic seizures |
5.6% |
2/36 |
| Limb hypertonia |
5.6% |
2/36 |
| Multifocal epileptiform discharges |
5.6% |
2/36 |
| Myoclonus |
5.6% |
2/36 |
| Neonatal hypotonia |
5.6% |
2/36 |
| Progressive spasticity |
5.6% |
2/36 |
| Abdominal distention |
2.8% |
1/36 |
| Absence seizures |
2.8% |
1/36 |
| Babinski sign |
2.8% |
1/36 |
| Cerebral palsy |
2.8% |
1/36 |
| Facial hypotonia |
2.8% |
1/36 |
| Focal seizures with impairment of consciousness or awareness |
2.8% |
1/36 |
| Generalized seizures |
2.8% |
1/36 |
| Generalized tonic seizures |
2.8% |
1/36 |
| Hip contracture |
2.8% |
1/36 |
| Hyperactive deep tendon reflexes |
2.8% |
1/36 |
| Knee flexion contracture |
2.8% |
1/36 |
| Loss of ability to walk in first decade |
2.8% |
1/36 |
| Lower limb hypertonia |
2.8% |
1/36 |
| Poor coordination |
2.8% |
1/36 |
| Progressive truncal ataxia |
2.8% |
1/36 |
| Stereotypical hand wringing |
2.8% |
1/36 |
| Truncal ataxia |
2.8% |
1/36 |
| Unsteady gait |
2.8% |
1/36 |
| Behavioral problems |
78.9% |
15/19 |
| Autistic behavior |
36.8% |
7/19 |
| Stereotypic behavior |
31.6% |
6/19 |
| Impaired social reciprocity |
26.3% |
5/19 |
| Poor eye contact |
26.3% |
5/19 |
| Impaired social interactions |
21.1% |
4/19 |
| Hyperactivity |
10.5% |
2/19 |
| Recurrent hand flapping |
10.5% |
2/19 |
| Stereotypical hand wringing |
10.5% |
2/19 |
| Abnormal emotion/affect behavior |
5.3% |
1/19 |
| Aggressive behavior |
5.3% |
1/19 |
| Drooling |
5.3% |
1/19 |
| No social interaction |
5.3% |
1/19 |
| Brain abnormality |
80.0% |
20/25 |
| Abnormality of the periventricular white matter |
20.0% |
5/25 |
| Cerebral atrophy |
12.0% |
3/25 |
| Cerebral cortical atrophy |
12.0% |
3/25 |
| EEG abnormality |
12.0% |
3/25 |
| Focal white matter lesions |
12.0% |
3/25 |
| Partial agenesis of the corpus callosum |
12.0% |
3/25 |
| Cerebellar vermis atrophy |
8.0% |
2/25 |
| Delayed myelination |
8.0% |
2/25 |
| Dilation of lateral ventricles |
8.0% |
2/25 |
| Dilated third ventricle |
8.0% |
2/25 |
| Dilated fourth ventricle |
8.0% |
2/25 |
| EEG with focal epileptiform discharges |
8.0% |
2/25 |
| EEG with generalized epileptiform discharges |
8.0% |
2/25 |
| EEG with generalized sharp slow waves |
8.0% |
2/25 |
| Abnormality of the dentate nucleus |
4.0% |
1/25 |
| Aplasia/Hypoplasia of the cerebellar vermis |
4.0% |
1/25 |
| Cerebral hypomyelination |
4.0% |
1/25 |
| CNS hypomyelination |
4.0% |
1/25 |
| Dysplastic corpus callosum |
4.0% |
1/25 |
| Enlarged fetal cisterna magna |
4.0% |
1/25 |
| Enlarged cisterna magna |
4.0% |
1/25 |
| Generalized cerebral atrophy/hypoplasia |
4.0% |
1/25 |
| Hypointensity of cerebral white matter on MRI |
4.0% |
1/25 |
| Hypoplasia of the corpus callosum |
4.0% |
1/25 |
| Leukodystrophy |
4.0% |
1/25 |
| Morphological abnormality of the central nervous system |
4.0% |
1/25 |
| Periventricular leukomalacia |
4.0% |
1/25 |
| Perivascular spaces |
4.0% |
1/25 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
75.0% |
12/16 |
| Macrotia |
56.3% |
9/16 |
| Abnormality of earlobe |
12.5% |
2/16 |
| Large earlobe |
12.5% |
2/16 |
| Low-set ears |
12.5% |
2/16 |
| Abnormality of the eye |
78.6% |
11/14 |
| Downslanted palpebral fissures |
35.7% |
5/14 |
| Deeply set eye |
14.3% |
2/14 |
| Epicanthus |
14.3% |
2/14 |
| Hypertelorism |
14.3% |
2/14 |
| Abnormality of the eyebrow |
7.1% |
1/14 |
| Short palpebral fissure |
7.1% |
1/14 |
| Sparse eyebrow |
7.1% |
1/14 |
| Abnormality of the nose |
82.6% |
19/23 |
| Narrow nose |
34.8% |
8/23 |
| Wide nasal base |
17.4% |
4/23 |
| Wide nose |
13.0% |
3/23 |
| Anteverted nares |
8.7% |
2/23 |
| Depressed nasal bridge |
8.7% |
2/23 |
| Long nose |
8.7% |
2/23 |
| Prominent nasal bridge |
8.7% |
2/23 |
| Wide nasal bridge |
8.7% |
2/23 |
| Narrow nasal tip |
4.3% |
1/23 |
| Short nose |
4.3% |
1/23 |
| Underdeveloped nasal alae |
4.3% |
1/23 |
| Abnormality of the mouth |
69.2% |
9/13 |
| Narrow mouth |
23.1% |
3/13 |
| Drooling |
15.4% |
2/13 |
| Everted lower lip vermilion |
15.4% |
2/13 |
| Malar flattening |
15.4% |
2/13 |
| Microdontia |
15.4% |
2/13 |
| Open mouth |
15.4% |
2/13 |
| Widely spaced teeth |
15.4% |
2/13 |
| High palate |
7.7% |
1/13 |
| Short philtrum |
7.7% |
1/13 |
| Visual and hearing impairments |
|
|
| Abnormal vision |
75.0% |
3/4 |
| Abnormal eye physiology |
25.0% |
1/4 |
| Astigmatism |
25.0% |
1/4 |
| Exotropia |
25.0% |
1/4 |
| Strabismus |
25.0% |
1/4 |
| Heart |
|
|
| Abnormality of the heart |
50.0% |
7/14 |
| Congestive heart failure |
21.4% |
3/14 |
| Bicuspid aortic valve |
7.1% |
1/14 |
| Bradycardia |
7.1% |
1/14 |
| Myocarditis |
7.1% |
1/14 |
| Patent foramen ovale |
7.1% |
1/14 |
| Patent ductus arteriosus |
7.1% |
1/14 |
| Right ventricular failure |
7.1% |
1/14 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
96.8% |
30/31 |
| Constipation |
54.8% |
17/31 |
| Gastroesophageal reflux |
25.8% |
8/31 |
| Feeding difficulties |
22.6% |
7/31 |
| Feeding difficulties in infancy |
12.9% |
4/31 |
| Chronic constipation |
9.7% |
3/31 |
| Dysphagia |
9.7% |
3/31 |
| Abnormality of the large intestine |
6.5% |
2/31 |
| Gastrostomy tube feeding in infancy |
6.5% |
2/31 |
| Abdominal distention |
3.2% |
1/31 |
| Abnormality of the gastrointestinal tract |
3.2% |
1/31 |
| Abnormality of the mesentery |
3.2% |
1/31 |
| Abnormality of the small intestine |
3.2% |
1/31 |
| Bowel incontinence |
3.2% |
1/31 |
| Chronic diarrhea |
3.2% |
1/31 |
| Intestinal obstruction |
3.2% |
1/31 |
| Intestinal pseudo-obstruction |
3.2% |
1/31 |
| Intestinal malrotation |
3.2% |
1/31 |
| Neonatal intestinal obstruction |
3.2% |
1/31 |
| Urogenital |
|
|
| Abnormality of the urogenital system |
53.3% |
8/15 |
| Dilatation of the bladder |
26.7% |
4/15 |
| Dilatation of the renal pelvis |
13.3% |
2/15 |
| Urinary incontinence |
13.3% |
2/15 |
| Abnormality of the genital system |
6.7% |
1/15 |
| Abnormality of the bladder |
6.7% |
1/15 |
| Abnormality of the ureter |
6.7% |
1/15 |
| Fetal megacystis |
6.7% |
1/15 |
| Unilateral cryptorchidism |
6.7% |
1/15 |
| Urinary retention |
6.7% |
1/15 |
| Skeleton |
|
|
| Skeletal abnormalities |
78.6% |
11/14 |
| Abnormality of digit |
14.3% |
2/14 |
| Clinodactyly |
14.3% |
2/14 |
| Fractures of the long bones |
14.3% |
2/14 |
| Slender finger |
14.3% |
2/14 |
| Slender toe |
14.3% |
2/14 |
| Arachnodactyly |
7.1% |
1/14 |
| Broad foot |
7.1% |
1/14 |
| Hip Subluxation |
7.1% |
1/14 |
| Joint laxity |
7.1% |
1/14 |
| Joint hypermobility |
7.1% |
1/14 |
| Long foot |
7.1% |
1/14 |
| Long fingers |
7.1% |
1/14 |
| Plagiocephaly |
7.1% |
1/14 |
| Scoliosis |
7.1% |
1/14 |
| Short foot |
7.1% |
1/14 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
40.0% |
2/5 |
| Thin skin |
40.0% |
2/5 |
| Pallor |
20.0% |
1/5 |
| Endocrine / Immunological / Metabolic |
|
|
| Abnormality of the endocrine system |
50.0% |
3/6 |
| Hypothyroidism |
33.3% |
2/6 |
| Pituitary hypothyroidism |
16.7% |
1/6 |
| Abnormality of the metabolic system |
20.0% |
2/10 |
| Fever |
10.0% |
1/10 |
| Increased serum lactate |
10.0% |
1/10 |
| Abnormality of the immune system |
88.9% |
24/27 |
| Recurrent respiratory infections |
48.1% |
13/27 |
| Pneumonia |
18.5% |
5/27 |
| Recurrent pneumonia |
18.5% |
5/27 |
| Respiratory tract infection |
18.5% |
5/27 |
| Allergic rhinitis |
7.4% |
2/27 |
| CNS infection |
7.4% |
2/27 |
| Meningitis |
3.7% |
1/27 |
| Recurrent aspiration pneumonia |
3.7% |
1/27 |
| Recurrent infections |
3.7% |
1/27 |
| Recurrent bronchopulmonary infections |
3.7% |
1/27 |
| Sepsis |
3.7% |
1/27 |