| Gender |
|
|
| Male |
60.0% |
12/20 |
| Female |
40.0% |
8/20 |
| Neurology |
|
|
| Neurological abnormalities |
88.2% |
15/17 |
| Generalized hypotonia |
47.1% |
8/17 |
| Ataxia |
23.5% |
4/17 |
| Absence seizures |
11.8% |
2/17 |
| EEG abnormality |
11.8% |
2/17 |
| Seizures |
11.8% |
2/17 |
| Absent speech |
5.9% |
1/17 |
| Central hypotonia |
5.9% |
1/17 |
| Delayed speech and language development |
5.9% |
1/17 |
| Epileptic spasms |
5.9% |
1/17 |
| Generalized seizures |
5.9% |
1/17 |
| Generalized tonic seizures |
5.9% |
1/17 |
| Global developmental delay |
5.9% |
1/17 |
| Hearing impairment |
5.9% |
1/17 |
| Horizontal nystagmus |
5.9% |
1/17 |
| Intellectual disability |
5.9% |
1/17 |
| Intellectual disability, moderate |
5.9% |
1/17 |
| Oromotor apraxia |
5.9% |
1/17 |
| Spastic gait |
5.9% |
1/17 |
| Specific learning disability |
5.9% |
1/17 |
| Visual impairment |
5.9% |
1/17 |
| Behavioral problems |
55.0% |
11/20 |
| Attention deficit hyperactivity disorder |
20.0% |
4/20 |
| Behavioral abnormality |
15.0% |
3/20 |
| Autism |
10.0% |
2/20 |
| Fatigue |
10.0% |
2/20 |
| Self-injurious behavior |
10.0% |
2/20 |
| Sleep disturbance |
10.0% |
2/20 |
| Abnormal social behavior |
5.0% |
1/20 |
| Aggressive behavior |
5.0% |
1/20 |
| Anxiety |
5.0% |
1/20 |
| Autistic behavior |
5.0% |
1/20 |
| Depression |
5.0% |
1/20 |
| Difficulty walking |
5.0% |
1/20 |
| Impaired social interactions |
5.0% |
1/20 |
| Restrictive behavior |
5.0% |
1/20 |
| Sleep apnea |
5.0% |
1/20 |
| Brain abnormality |
75.0% |
12/16 |
| Hypoplasia of the corpus callosum |
37.5% |
6/16 |
| Abnormality of the cerebral ventricles |
6.3% |
1/16 |
| Abnormality of the periventricular white matter |
6.3% |
1/16 |
| Aplasia/Hypoplasia of the cerebral white matter |
6.3% |
1/16 |
| Arachnoid cyst |
6.3% |
1/16 |
| Asymmetric ventricles |
6.3% |
1/16 |
| Brainstem dysplasia |
6.3% |
1/16 |
| Brain abscess |
6.3% |
1/16 |
| Cavum septum pellucidum |
6.3% |
1/16 |
| Cerebellar atrophy |
6.3% |
1/16 |
| Cerebellar hypoplasia |
6.3% |
1/16 |
| Cortical dysplasia |
6.3% |
1/16 |
| Diffuse cerebral atrophy |
6.3% |
1/16 |
| Dilation of lateral ventricles |
6.3% |
1/16 |
| EEG abnormality |
6.3% |
1/16 |
| Frontal cortical atrophy |
6.3% |
1/16 |
| Global brain atrophy |
6.3% |
1/16 |
| Microcephaly |
6.3% |
1/16 |
| Periventricular leukomalacia |
6.3% |
1/16 |
| Periventricular cysts |
6.3% |
1/16 |
| Perivascular spaces |
6.3% |
1/16 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
20.0% |
2/10 |
| Abnormality of the outer ear |
10.0% |
1/10 |
| Abnormality of the eye |
33.3% |
3/9 |
| Hypermetropia |
11.1% |
1/9 |
| Hypotelorism |
11.1% |
1/9 |
| Long palpebral fissure |
11.1% |
1/9 |
| Thick eyebrow |
11.1% |
1/9 |
| Abnormality of the nose |
22.2% |
2/9 |
| Anteverted nares |
11.1% |
1/9 |
| Broad nasal tip |
11.1% |
1/9 |
| Wide nasal ridge |
11.1% |
1/9 |
| Abnormality of the mouth |
40.0% |
4/10 |
| Gingival overgrowth |
10.0% |
1/10 |
| High palate |
10.0% |
1/10 |
| Narrow palate |
10.0% |
1/10 |
| Open mouth |
10.0% |
1/10 |
| Oromotor apraxia |
10.0% |
1/10 |
| Smooth philtrum |
10.0% |
1/10 |
| Thick lower lip vermilion |
10.0% |
1/10 |
| Thin upper lip vermilion |
10.0% |
1/10 |
| Visual and hearing impairments |
|
|
| Abnormal hearing |
21.1% |
4/19 |
| Hearing impairment |
15.8% |
3/19 |
| Mild hearing impairment |
5.3% |
1/19 |
| Abnormal vision |
52.6% |
10/19 |
| Strabismus |
21.1% |
4/19 |
| Abnormality of refraction |
10.5% |
2/19 |
| Abnormality of the optic nerve |
5.3% |
1/19 |
| Abnormality of vision |
5.3% |
1/19 |
| Astigmatism |
5.3% |
1/19 |
| Cortical visual impairment |
5.3% |
1/19 |
| Hypermetropia |
5.3% |
1/19 |
| Myopia |
5.3% |
1/19 |
| Nystagmus |
5.3% |
1/19 |
| Poor eye contact |
5.3% |
1/19 |
| Heart |
|
|
| Abnormality of the heart |
7.7% |
1/13 |
| Bicuspid aortic valve |
7.7% |
1/13 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
40.0% |
8/20 |
| Constipation |
10.0% |
2/20 |
| Feeding difficulties |
10.0% |
2/20 |
| Gastroesophageal reflux |
10.0% |
2/20 |
| Drooling |
5.0% |
1/20 |
| Feeding difficulties in infancy |
5.0% |
1/20 |
| Gastrointestinal dysmotility |
5.0% |
1/20 |
| Ileal atresia |
5.0% |
1/20 |
| Intestinal malrotation |
5.0% |
1/20 |
| Malnutrition |
5.0% |
1/20 |
| Ulcerative colitis |
5.0% |
1/20 |
| Urogenital |
|
|
| Abnormality of the urogenital system |
18.8% |
3/16 |
| Cryptorchidism |
6.3% |
1/16 |
| Menorrhagia |
6.3% |
1/16 |
| Nocturia |
6.3% |
1/16 |
| Shawl scrotum |
6.3% |
1/16 |
| Skeleton |
|
|
| Skeletal abnormalities |
50.0% |
9/18 |
| Pes planus |
16.7% |
3/18 |
| Broad hallux |
11.1% |
2/18 |
| Joint laxity |
11.1% |
2/18 |
| Prominent fingertip pads |
11.1% |
2/18 |
| Scoliosis |
11.1% |
2/18 |
| Abnormality of the knees |
5.6% |
1/18 |
| Bifid ribs |
5.6% |
1/18 |
| Broad thumb |
5.6% |
1/18 |
| Hallux valgus |
5.6% |
1/18 |
| Hip dysplasia |
5.6% |
1/18 |
| Limitation of joint mobility |
5.6% |
1/18 |
| Long palm |
5.6% |
1/18 |
| Narrow palm |
5.6% |
1/18 |
| Overlapping toe |
5.6% |
1/18 |
| Positional foot deformity |
5.6% |
1/18 |
| Tapered finger |
5.6% |
1/18 |
| Toe syndactyly |
5.6% |
1/18 |
| 3-4 finger syndactyly |
5.6% |
1/18 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
20.0% |
3/15 |
| Facial erythema |
6.7% |
1/15 |
| Irregular hyperpigmentation |
6.7% |
1/15 |
| Short nail |
6.7% |
1/15 |
| Endocrine / Immunological / Metabolic |
|
|
| Abnormality of the metabolic system |
10.0% |
1/10 |
| Hyperprolinemia |
10.0% |
1/10 |
| Abnormality of the immune system |
25.0% |
3/12 |
| Asthma |
8.3% |
1/12 |
| Recurrent otitis media |
8.3% |
1/12 |
| Recurrent infections |
8.3% |
1/12 |