| Gender |
|
|
| Male |
65.2% |
15/23 |
| Female |
34.8% |
8/23 |
| General |
|
|
| Birth Length abnormalities |
0% |
0/23 |
| Birth Weight abnormalities |
0% |
0/23 |
| Birth Head circumference abnormalities |
0% |
0/23 |
| Current Height abnormalities |
0% |
0/23 |
| Current Weight abnormalities |
0% |
0/23 |
| Current Head circumference abnormalities |
0% |
0/23 |
| Neurology |
|
|
| Neurological abnormalities |
100.0% |
23/23 |
| Seizures |
52.2% |
12/23 |
| Severe muscular hypotonia |
39.1% |
9/23 |
| Areflexia |
34.8% |
8/23 |
| Neonatal hypotonia |
34.8% |
8/23 |
| Hyporeflexia |
26.1% |
6/23 |
| Progressive muscle weakness |
26.1% |
6/23 |
| Muscular hypotonia |
17.4% |
4/23 |
| Areflexia of lower limbs |
8.7% |
2/23 |
| Generalized hypotonia |
8.7% |
2/23 |
| Abnormality of eye movement |
4.3% |
1/23 |
| Global developmental delay |
4.3% |
1/23 |
| Behavioral problems |
50.0% |
3/6 |
| Autism |
16.7% |
1/6 |
| Behavioral abnormality |
16.7% |
1/6 |
| Bipolar affective disorder |
16.7% |
1/6 |
| Self-biting |
16.7% |
1/6 |
| Self-mutilation |
16.7% |
1/6 |
| Sleep disturbance |
16.7% |
1/6 |
| Stereotypic behavior |
16.7% |
1/6 |
| Brain abnormality |
88.9% |
16/18 |
| Global brain atrophy |
38.9% |
7/18 |
| Abnormality of the cerebral white matter |
33.3% |
6/18 |
| Abnormality of the corpus callosum |
33.3% |
6/18 |
| Abnormality of the periventricular white matter |
16.7% |
3/18 |
| Ventriculomegaly |
11.1% |
2/18 |
| Agenesis of corpus callosum |
5.6% |
1/18 |
| Aplasia/Hypoplasia of the brainstem |
5.6% |
1/18 |
| Cerebral white matter hypoplasia |
5.6% |
1/18 |
| Cerebral cortical atrophy |
5.6% |
1/18 |
| Periventricular leukomalacia |
5.6% |
1/18 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
7.1% |
1/14 |
| Abnormality of earlobe |
7.1% |
1/14 |
| Abnormality of the eye |
40.0% |
6/15 |
| Thick eyebrow |
13.3% |
2/15 |
| Deeply set eye |
6.7% |
1/15 |
| Epicanthus |
6.7% |
1/15 |
| Long eyelashes |
6.7% |
1/15 |
| Prominent epicanthal folds |
6.7% |
1/15 |
| Synophrys |
6.7% |
1/15 |
| Upslanted palpebral fissure |
6.7% |
1/15 |
| Abnormality of the nose |
33.3% |
5/15 |
| Bulbous nose |
20.0% |
3/15 |
| Anteverted nares |
6.7% |
1/15 |
| Broad nasal tip |
6.7% |
1/15 |
| Short nose |
6.7% |
1/15 |
| Abnormality of the mouth |
66.7% |
10/15 |
| High palate |
20.0% |
3/15 |
| Tented upper lip vermilion |
20.0% |
3/15 |
| Macroglossia |
13.3% |
2/15 |
| Open mouth |
13.3% |
2/15 |
| Long philtrum |
6.7% |
1/15 |
| Mandibular prognathia |
6.7% |
1/15 |
| Thick lower lip vermilion |
6.7% |
1/15 |
| Thick upper lip vermilion |
6.7% |
1/15 |
| Wide mouth |
6.7% |
1/15 |
| Visual and hearing impairments |
|
|
| Abnormal hearing |
9.1% |
2/22 |
| Bilateral conductive hearing impairment |
4.5% |
1/22 |
| Hearing impairment |
4.5% |
1/22 |
| Abnormal vision |
9.1% |
2/22 |
| Corneal opacity |
4.5% |
1/22 |
| Nystagmus |
4.5% |
1/22 |
| Strabismus |
4.5% |
1/22 |
| Heart |
|
|
| Abnormality of the heart |
5.0% |
1/20 |
| Pulmonic stenosis |
5.0% |
1/20 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
5.0% |
1/20 |
| Gastroesophageal reflux |
5.0% |
1/20 |
| Urogenital |
|
|
| Abnormality of the urogenital system |
9.5% |
2/21 |
| Cryptorchidism |
4.8% |
1/21 |
| Neurogenic bladder |
4.8% |
1/21 |
| Skeleton |
|
|
| Skeletal abnormalities |
70.0% |
14/20 |
| Limb undergrowth |
30.0% |
6/20 |
| Osteoporosis |
25.0% |
5/20 |
| Scoliosis |
20.0% |
4/20 |
| Delayed skeletal maturation |
10.0% |
2/20 |
| Pectus excavatum |
10.0% |
2/20 |
| Broad finger |
5.0% |
1/20 |
| Clinodactyly |
5.0% |
1/20 |
| 11 pairs of ribs |
5.0% |
1/20 |
| 2-3 toe syndactyly |
5.0% |
1/20 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
14.3% |
3/21 |
| Hirsutism |
9.5% |
2/21 |
| Eczema |
4.8% |
1/21 |
| Endocrine / Immunological / Metabolic |
|
|
| Abnormality of the endocrine system |
25.0% |
1/4 |
| Central adrenal insufficiency |
25.0% |
1/4 |
| Growth hormone deficiency |
25.0% |
1/4 |
| Abnormality of the metabolic system |
62.5% |
5/8 |
| Hypothyroidism |
50.0% |
4/8 |
| Hyperthyroidism |
12.5% |
1/8 |