| Gender |
|
|
| Male |
56.3% |
9/16 |
| Female |
43.8% |
7/16 |
| General |
|
|
| Birth Length abnormalities |
0% |
0/9 |
| Birth Weight abnormalities |
22.2% |
2/9 |
| < P3 : Small for gestational age |
22.2% |
2/9 |
| Birth Head circumference abnormalities |
11.1% |
1/9 |
| < P3 : Congenital microcephaly |
11.1% |
1/9 |
| Current Height abnormalities |
36.4% |
4/11 |
| < P3 : Short stature |
36.4% |
4/11 |
| Current Weight abnormalities |
22.2% |
2/9 |
| > P98 : Increased body weight |
11.1% |
1/9 |
| < P3 : Decreased body weight |
11.1% |
1/9 |
| Current Head circumference abnormalities |
93.3% |
14/15 |
| < P3 : Microcephaly |
93.3% |
14/15 |
| Neurology |
|
|
| Neurological abnormalities |
100.0% |
16/16 |
| Febrile seizures |
62.5% |
10/16 |
| Gait disturbance |
37.5% |
6/16 |
| Global developmental delay |
31.3% |
5/16 |
| Hypertonia |
31.3% |
5/16 |
| Epileptic spasms |
18.8% |
3/16 |
| obsolete Mental retardation, in some |
18.8% |
3/16 |
| Seizures |
18.8% |
3/16 |
| Mild receptive language delay |
12.5% |
2/16 |
| Abnormality of the cerebellar vermis |
6.3% |
1/16 |
| Absent speech |
6.3% |
1/16 |
| Aplasia/Hypoplasia of the corpus callosum |
6.3% |
1/16 |
| Expressive language delay |
6.3% |
1/16 |
| Severe expressive language delay |
6.3% |
1/16 |
| Behavioral problems |
100.0% |
13/13 |
| Autism |
53.8% |
7/13 |
| Stereotypic behavior |
38.5% |
5/13 |
| Anxiety |
30.8% |
4/13 |
| Abnormal fear/anxiety-related behavior |
23.1% |
3/13 |
| Autistic behavior |
23.1% |
3/13 |
| Hyperactivity |
23.1% |
3/13 |
| Sleep disturbance |
15.4% |
2/13 |
| Abnormal aggressive, impulsive or violent behavior |
7.7% |
1/13 |
| Apathy |
7.7% |
1/13 |
| Brain abnormality |
57.1% |
8/14 |
| Microcephaly |
42.9% |
6/14 |
| Abnormality of the corpus callosum |
7.1% |
1/14 |
| Abnormal myelination |
7.1% |
1/14 |
| Abnormality of the cerebellar vermis |
7.1% |
1/14 |
| Aplasia/Hypoplasia of the corpus callosum |
7.1% |
1/14 |
| Brain atrophy |
7.1% |
1/14 |
| Dilation of lateral ventricles |
7.1% |
1/14 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
71.4% |
5/7 |
| Abnormality of the auditory canal |
14.3% |
1/7 |
| Absent earlobe |
14.3% |
1/7 |
| Anteverted ears |
14.3% |
1/7 |
| Large fleshy ears |
14.3% |
1/7 |
| Prominent ear helix |
14.3% |
1/7 |
| Abnormality of the eye |
100.0% |
7/7 |
| Deeply set eye |
57.1% |
4/7 |
| Downslanted palpebral fissures |
28.6% |
2/7 |
| Long eyelashes |
28.6% |
2/7 |
| Hypertelorism |
14.3% |
1/7 |
| Periorbital fullness |
14.3% |
1/7 |
| Proptosis |
14.3% |
1/7 |
| Strabismus |
14.3% |
1/7 |
| Abnormality of the nose |
100.0% |
6/6 |
| Prominent nasal bridge |
50.0% |
3/6 |
| Abnormality of the columella |
16.7% |
1/6 |
| Narrow nose |
16.7% |
1/6 |
| Prominent nose |
16.7% |
1/6 |
| Short philtrum |
16.7% |
1/6 |
| Short nose |
16.7% |
1/6 |
| Abnormality of the mouth |
71.4% |
5/7 |
| Tented upper lip vermilion |
28.6% |
2/7 |
| Wide mouth |
28.6% |
2/7 |
| Abnormality of the teeth |
14.3% |
1/7 |
| Ankyloglossia |
14.3% |
1/7 |
| High, narrow palate |
14.3% |
1/7 |
| Overbite |
14.3% |
1/7 |
| Visual and hearing impairments |
|
|
| Abnormal hearing |
9.1% |
1/11 |
| Hearing impairment |
9.1% |
1/11 |
| Abnormal vision |
27.3% |
3/11 |
| Abnormality of vision |
9.1% |
1/11 |
| Astigmatism |
9.1% |
1/11 |
| Posterior vitreous detachment |
9.1% |
1/11 |
| Heart |
|
|
| Abnormality of the heart |
15.4% |
2/13 |
| Aortic regurgitation |
7.7% |
1/13 |
| Thoracic aorta calcification |
7.7% |
1/13 |
| Ventricular septal defect |
7.7% |
1/13 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
26.7% |
4/15 |
| Gastroesophageal reflux |
13.3% |
2/15 |
| Abnormality of the intestine |
6.7% |
1/15 |
| Feeding difficulties in infancy |
6.7% |
1/15 |
| Feeding difficulties |
6.7% |
1/15 |
| Urogenital |
|
|
| Abnormality of the urogenital system |
7.7% |
1/13 |
| Hydrocele testis |
7.7% |
1/13 |
| Skeleton |
|
|
| Skeletal abnormalities |
73.3% |
11/15 |
| Abnormality of the foot |
26.7% |
4/15 |
| Long hallux |
13.3% |
2/15 |
| Pes cavus |
13.3% |
2/15 |
| Short toe |
13.3% |
2/15 |
| 2-4 toe cutaneous syndactyly |
13.3% |
2/15 |
| Arachnodactyly |
6.7% |
1/15 |
| Bowing of the legs |
6.7% |
1/15 |
| Camptodactyly of toe |
6.7% |
1/15 |
| Clinodactyly of the 5th toe |
6.7% |
1/15 |
| Clinodactyly of the 4th toe |
6.7% |
1/15 |
| Clinodactyly of the 4th finger |
6.7% |
1/15 |
| Clinodactyly of the 5th finger |
6.7% |
1/15 |
| Cutaneous finger syndactyly |
6.7% |
1/15 |
| Exostoses |
6.7% |
1/15 |
| Hallux valgus |
6.7% |
1/15 |
| Hyperlordosis |
6.7% |
1/15 |
| Kyphoscoliosis |
6.7% |
1/15 |
| Kyphosis |
6.7% |
1/15 |
| Osteochondrosis |
6.7% |
1/15 |
| Pectus excavatum |
6.7% |
1/15 |
| Scoliosis |
6.7% |
1/15 |
| Small hand |
6.7% |
1/15 |
| Spina bifida |
6.7% |
1/15 |
| 2-3 finger syndactyly |
6.7% |
1/15 |
| 2-3 toe syndactyly |
6.7% |
1/15 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
26.7% |
4/15 |
| Delayed eruption of permanent teeth |
6.7% |
1/15 |
| Delayed eruption of teeth |
6.7% |
1/15 |
| Eczema |
6.7% |
1/15 |
| Increased number of teeth |
6.7% |
1/15 |
| Endocrine / Immunological / Metabolic |
|
|
| Abnormality of the metabolic system |
7.7% |
1/13 |
| Gastroesophageal reflux |
7.7% |
1/13 |