| Gender |
|
|
| Male |
50.0% |
10/20 |
| Female |
50.0% |
10/20 |
| General |
|
|
| Birth Length abnormalities |
0% |
0/19 |
| Birth Weight abnormalities |
0% |
0/19 |
| Birth Head circumference abnormalities |
10.5% |
2/19 |
| < P3 : Congenital microcephaly |
10.5% |
2/19 |
| Current Height abnormalities |
10.5% |
2/19 |
| > P98 : Tall stature |
5.3% |
1/19 |
| < P3 : Short stature |
5.3% |
1/19 |
| Current Weight abnormalities |
10.5% |
2/19 |
| > P98 : Increased body weight |
10.5% |
2/19 |
| Current Head circumference abnormalities |
47.4% |
9/19 |
| < P3 : Microcephaly |
47.4% |
9/19 |
| Neurology |
|
|
| Neurological abnormalities |
100.0% |
17/17 |
| Gait ataxia |
23.5% |
4/17 |
| Generalized tonic-clonic seizures |
23.5% |
4/17 |
| Generalized hypotonia |
23.5% |
4/17 |
| Absence seizures |
17.6% |
3/17 |
| Ataxia |
17.6% |
3/17 |
| Focal seizures |
17.6% |
3/17 |
| Drooling |
11.8% |
2/17 |
| Myoclonus |
11.8% |
2/17 |
| Seizures |
11.8% |
2/17 |
| Absence seizures with special features |
5.9% |
1/17 |
| Autism |
5.9% |
1/17 |
| Broad-based gait |
5.9% |
1/17 |
| EEG abnormality |
5.9% |
1/17 |
| Epileptiform EEG discharges |
5.9% |
1/17 |
| Generalized neonatal hypotonia |
5.9% |
1/17 |
| Generalized myoclonic seizures |
5.9% |
1/17 |
| Hyperkinesis |
5.9% |
1/17 |
| Infantile spasms |
5.9% |
1/17 |
| Infantile muscular hypotonia |
5.9% |
1/17 |
| Intellectual disability, profound |
5.9% |
1/17 |
| Neonatal hypotonia |
5.9% |
1/17 |
| Paroxysmal dystonia |
5.9% |
1/17 |
| Photosensitive tonic-clonic seizures |
5.9% |
1/17 |
| Postnatal microcephaly |
5.9% |
1/17 |
| Status epilepticus |
5.9% |
1/17 |
| Stereotypical hand wringing |
5.9% |
1/17 |
| Strabismus |
5.9% |
1/17 |
| Toe walking |
5.9% |
1/17 |
| Upper limb spasticity |
5.9% |
1/17 |
| Behavioral problems |
88.2% |
15/17 |
| Stereotypic behavior |
58.8% |
10/17 |
| Autism |
17.6% |
3/17 |
| Drooling |
17.6% |
3/17 |
| Stereotypical hand wringing |
17.6% |
3/17 |
| Abnormal aggressive, impulsive or violent behavior |
11.8% |
2/17 |
| Autistic behavior |
11.8% |
2/17 |
| Bruxism |
11.8% |
2/17 |
| Inappropriate crying |
11.8% |
2/17 |
| Overfriendliness |
11.8% |
2/17 |
| Poor eye contact |
11.8% |
2/17 |
| Self-injurious behavior |
11.8% |
2/17 |
| Anxiety |
5.9% |
1/17 |
| Attention deficit hyperactivity disorder |
5.9% |
1/17 |
| Behavioral abnormality |
5.9% |
1/17 |
| Delayed social development |
5.9% |
1/17 |
| Happy demeanor |
5.9% |
1/17 |
| Inappropriate laughter |
5.9% |
1/17 |
| Paroxysmal bursts of laughter |
5.9% |
1/17 |
| Recurrent hand flapping |
5.9% |
1/17 |
| Restrictive behavior |
5.9% |
1/17 |
| Self-biting |
5.9% |
1/17 |
| Sleep disturbance |
5.9% |
1/17 |
| Unsteady gait |
5.9% |
1/17 |
| Brain abnormality |
38.5% |
5/13 |
| Cerebral atrophy |
15.4% |
2/13 |
| Abnormality of the periventricular white matter |
7.7% |
1/13 |
| Brain atrophy |
7.7% |
1/13 |
| Cerebral hypomyelination |
7.7% |
1/13 |
| Hypoplasia of the frontal lobes |
7.7% |
1/13 |
| Intracranial cystic lesion |
7.7% |
1/13 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
5.3% |
1/19 |
| Thickened helices |
5.3% |
1/19 |
| Abnormality of the eye |
36.8% |
7/19 |
| Strabismus |
26.3% |
5/19 |
| Deeply set eye |
10.5% |
2/19 |
| Downslanted palpebral fissures |
5.3% |
1/19 |
| Upslanted palpebral fissure |
5.3% |
1/19 |
| Abnormality of the mouth |
26.3% |
5/19 |
| Thick vermilion border |
21.1% |
4/19 |
| Wide mouth |
15.8% |
3/19 |
| Short philtrum |
10.5% |
2/19 |
| Tented upper lip vermilion |
5.3% |
1/19 |
| Visual and hearing impairments |
|
|
| Abnormal vision |
27.8% |
5/18 |
| Hypermetropia |
16.7% |
3/18 |
| Cortical visual impairment |
5.6% |
1/18 |
| Optic atrophy |
5.6% |
1/18 |
| Heart |
|
|
| Abnormality of the heart |
10.5% |
2/19 |
| Patent ductus arteriosus |
5.3% |
1/19 |
| Pulmonary artery stenosis |
5.3% |
1/19 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
47.4% |
9/19 |
| Constipation |
31.6% |
6/19 |
| Feeding difficulties |
26.3% |
5/19 |
| Gastroesophageal reflux |
15.8% |
3/19 |
| Abnormal eating behavior |
5.3% |
1/19 |
| Villous atrophy |
5.3% |
1/19 |
| Urogenital |
|
|
| Abnormality of the urogenital system |
5.3% |
1/19 |
| Urethral valve |
5.3% |
1/19 |
| Skeleton |
|
|
| Skeletal abnormalities |
52.6% |
10/19 |
| Brachycephaly |
15.8% |
3/19 |
| Scoliosis |
15.8% |
3/19 |
| Narrow foot |
10.5% |
2/19 |
| Pes planus |
10.5% |
2/19 |
| Anterior plagiocephaly |
5.3% |
1/19 |
| Broad thumb |
5.3% |
1/19 |
| Camptodactyly |
5.3% |
1/19 |
| Clinodactyly |
5.3% |
1/19 |
| Kyphoscoliosis |
5.3% |
1/19 |
| Long fingers |
5.3% |
1/19 |
| Prominent metopic ridge |
5.3% |
1/19 |
| Slender finger |
5.3% |
1/19 |
| Slender toe |
5.3% |
1/19 |
| Small hand |
5.3% |
1/19 |
| Tapered finger |
5.3% |
1/19 |
| Thoracic scoliosis |
5.3% |
1/19 |
| Thoracic kyphosis |
5.3% |
1/19 |
| 11 pairs of ribs |
5.3% |
1/19 |
| 2-3 toe syndactyly |
5.3% |
1/19 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
36.8% |
7/19 |
| Eczema |
21.1% |
4/19 |
| Abnormality of the eyebrow |
10.5% |
2/19 |
| Abnormality of the toenails |
5.3% |
1/19 |
| Coarse facial features |
5.3% |
1/19 |
| Coarse hair |
5.3% |
1/19 |
| Horizontal eyebrow |
5.3% |
1/19 |
| Low anterior hairline |
5.3% |
1/19 |
| Low posterior hairline |
5.3% |
1/19 |
| Medial flaring of the eyebrow |
5.3% |
1/19 |
| Mottled pigmentation |
5.3% |
1/19 |
| Pallor |
5.3% |
1/19 |
| Sparse hair |
5.3% |
1/19 |
| Synophrys |
5.3% |
1/19 |
| Endocrine / Immunological / Metabolic |
|
|
| Abnormality of the metabolic system |
5.3% |
1/19 |
| Hypothermia |
5.3% |
1/19 |
| Neonatal hypoglycemia |
5.3% |
1/19 |