| Gender |
|
|
| Male |
71.4% |
5/7 |
| Female |
28.6% |
2/7 |
| General |
|
|
| Birth Length abnormalities |
14.3% |
1/7 |
| < P3 : Birth length less than 3rd percentile |
14.3% |
1/7 |
| Birth Weight abnormalities |
14.3% |
1/7 |
| > P98 : Large for gestational age |
14.3% |
1/7 |
| Birth Head circumference abnormalities |
28.6% |
2/7 |
| < P3 : Congenital microcephaly |
14.3% |
1/7 |
| > P98 : Macrocephaly at birth |
14.3% |
1/7 |
| Current Height abnormalities |
71.4% |
5/7 |
| < P3 : Short stature |
42.9% |
3/7 |
| > P98 : Tall stature |
28.6% |
2/7 |
| Current Weight abnormalities |
71.4% |
5/7 |
| < P3 : Decreased body weight |
28.6% |
2/7 |
| > P98 : Increased body weight |
42.9% |
3/7 |
| Current Head circumference abnormalities |
28.6% |
2/7 |
| > P98 : Macrocephaly |
14.3% |
1/7 |
| < P3 : Microcephaly |
14.3% |
1/7 |
| Neurology |
|
|
| Neurological abnormalities |
71.4% |
5/7 |
| Muscular hypotonia |
57.1% |
4/7 |
| Autism |
14.3% |
1/7 |
| Global developmental delay |
14.3% |
1/7 |
| Intellectual disability, moderate |
14.3% |
1/7 |
| Nystagmus |
14.3% |
1/7 |
| Poor motor coordination |
14.3% |
1/7 |
| Severe muscular hypotonia |
14.3% |
1/7 |
| Speech apraxia |
14.3% |
1/7 |
| Behavioral problems |
33.3% |
2/6 |
| Anxiety |
16.7% |
1/6 |
| Low frustration tolerance |
16.7% |
1/6 |
| Obsessive-compulsive trait |
16.7% |
1/6 |
| Brain abnormality |
66.7% |
2/3 |
| Agenesis of corpus callosum |
33.3% |
1/3 |
| Cavum septum pellucidum |
33.3% |
1/3 |
| Perivascular spaces |
33.3% |
1/3 |
| Ventriculomegaly |
33.3% |
1/3 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
85.7% |
6/7 |
| Low-set ears |
28.6% |
2/7 |
| Thickened ears |
28.6% |
2/7 |
| Uplifted earlobe |
28.6% |
2/7 |
| Abnormality of the outer ear |
14.3% |
1/7 |
| Posteriorly rotated ears |
14.3% |
1/7 |
| Abnormality of the eye |
42.9% |
3/7 |
| Deeply set eye |
14.3% |
1/7 |
| Hypertelorism |
14.3% |
1/7 |
| Hypotelorism |
14.3% |
1/7 |
| Long eyebrows |
14.3% |
1/7 |
| Abnormality of the nose |
57.1% |
4/7 |
| Broad nasal tip |
14.3% |
1/7 |
| Bulbous nose |
14.3% |
1/7 |
| Depressed nasal bridge |
14.3% |
1/7 |
| Prominent nose |
14.3% |
1/7 |
| Short nose |
14.3% |
1/7 |
| Abnormality of the mouth |
71.4% |
5/7 |
| High palate |
28.6% |
2/7 |
| Abnormality of the teeth |
14.3% |
1/7 |
| Ankyloglossia |
14.3% |
1/7 |
| Bifid uvula |
14.3% |
1/7 |
| Cleft soft palate |
14.3% |
1/7 |
| Delayed eruption of teeth |
14.3% |
1/7 |
| Downturned corners of mouth |
14.3% |
1/7 |
| Microdontia |
14.3% |
1/7 |
| Wide mouth |
14.3% |
1/7 |
| Visual and hearing impairments |
|
|
| Abnormal hearing |
28.6% |
2/7 |
| Abnormality of the middle ear ossicles |
14.3% |
1/7 |
| Hearing impairment |
14.3% |
1/7 |
| Mild hearing impairment |
14.3% |
1/7 |
| Abnormal vision |
28.6% |
2/7 |
| Astigmatism |
14.3% |
1/7 |
| Exotropia |
14.3% |
1/7 |
| Pulmonary |
|
|
| Abnormality of the lungs |
33.3% |
1/3 |
| Respiratory infections in early life |
33.3% |
1/3 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
85.7% |
6/7 |
| Feeding difficulties |
42.9% |
3/7 |
| Gastroesophageal reflux |
42.9% |
3/7 |
| Abdominal pain |
14.3% |
1/7 |
| Diarrhea |
14.3% |
1/7 |
| Esophageal atresia |
14.3% |
1/7 |
| Feeding difficulties in infancy |
14.3% |
1/7 |
| Poor suck |
14.3% |
1/7 |
| Urogenital |
|
|
| Abnormality of the urogenital system |
66.7% |
2/3 |
| Hydronephrosis |
33.3% |
1/3 |
| Hypoplastic male external genitalia |
33.3% |
1/3 |
| Skeleton |
|
|
| Skeletal abnormalities |
60.0% |
3/5 |
| Short palm |
60.0% |
3/5 |
| Short foot |
40.0% |
2/5 |
| Arachnodactyly |
20.0% |
1/5 |
| Short 5th finger |
20.0% |
1/5 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
60.0% |
3/5 |
| Cutis laxa |
20.0% |
1/5 |
| Hypoplastic fifth toenail |
20.0% |
1/5 |
| Jaundice |
20.0% |
1/5 |
| Sparse hair |
20.0% |
1/5 |
| Endocrine / Immunological / Metabolic |
|
|
| Abnormality of the endocrine system |
50.0% |
1/2 |
| Delayed puberty |
50.0% |
1/2 |
| Proportionate short stature |
50.0% |
1/2 |
| Abnormality of the immune system |
50.0% |
2/4 |
| Recurrent infections |
50.0% |
2/4 |