| Gender |
|
|
| Male |
42.9% |
3/7 |
| Female |
57.1% |
4/7 |
| General |
|
|
| Birth Length abnormalities |
0% |
0/5 |
| Birth Weight abnormalities |
0% |
0/7 |
| Birth Head circumference abnormalities |
50.0% |
3/6 |
| < P3 : Congenital microcephaly |
33.3% |
2/6 |
| > P98 : Macrocephaly at birth |
16.7% |
1/6 |
| Current Height abnormalities |
28.6% |
2/7 |
| < P3 : Short stature |
28.6% |
2/7 |
| Current Weight abnormalities |
42.9% |
3/7 |
| < P3 : Decreased body weight |
28.6% |
2/7 |
| > P98 : Increased body weight |
14.3% |
1/7 |
| Current Head circumference abnormalities |
71.4% |
5/7 |
| < P3 : Microcephaly |
28.6% |
2/7 |
| > P98 : Macrocephaly |
42.9% |
3/7 |
| Neurology |
|
|
| Neurological abnormalities |
85.7% |
6/7 |
| Neonatal hypotonia |
28.6% |
2/7 |
| Seizures |
28.6% |
2/7 |
| Sleep apnea |
28.6% |
2/7 |
| Central hypotonia |
14.3% |
1/7 |
| Chorea |
14.3% |
1/7 |
| Dystonia |
14.3% |
1/7 |
| Hemiparesis |
14.3% |
1/7 |
| Hypertonia |
14.3% |
1/7 |
| Migraine |
14.3% |
1/7 |
| Behavioral problems |
100.0% |
6/6 |
| Overfriendliness |
33.3% |
2/6 |
| Abnormal emotion/affect behavior |
16.7% |
1/6 |
| Agitation |
16.7% |
1/6 |
| Anxiety |
16.7% |
1/6 |
| Attention deficit hyperactivity disorder |
16.7% |
1/6 |
| Autism |
16.7% |
1/6 |
| Self-injurious behavior |
16.7% |
1/6 |
| Brain abnormality |
50.0% |
3/6 |
| Ventriculomegaly |
33.3% |
2/6 |
| Corpus callosum atrophy |
16.7% |
1/6 |
| Cortical gyral simplification |
16.7% |
1/6 |
| Widened subarachnoid space |
16.7% |
1/6 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
71.4% |
5/7 |
| Low-set ears |
28.6% |
2/7 |
| Abnormality of the pinna |
14.3% |
1/7 |
| Low-set, posteriorly rotated ears |
14.3% |
1/7 |
| Protruding ear |
14.3% |
1/7 |
| Thickened helices |
14.3% |
1/7 |
| Abnormality of the eye |
100.0% |
7/7 |
| Hypertelorism |
57.1% |
4/7 |
| Deeply set eye |
28.6% |
2/7 |
| Highly arched eyebrow |
28.6% |
2/7 |
| Sparse eyebrow |
28.6% |
2/7 |
| Abnormal shape of the palpebral fissure |
14.3% |
1/7 |
| Downslanted palpebral fissures |
14.3% |
1/7 |
| Epicanthus |
14.3% |
1/7 |
| Long palpebral fissure |
14.3% |
1/7 |
| Long eyelashes |
14.3% |
1/7 |
| Synophrys |
14.3% |
1/7 |
| Telecanthus |
14.3% |
1/7 |
| Underdeveloped supraorbital ridges |
14.3% |
1/7 |
| Unilateral narrow palpebral fissure |
14.3% |
1/7 |
| Abnormality of the nose |
85.7% |
6/7 |
| Prominent nasal bridge |
42.9% |
3/7 |
| Prominent nasal tip |
42.9% |
3/7 |
| Depressed nasal bridge |
28.6% |
2/7 |
| Wide nasal bridge |
28.6% |
2/7 |
| Anteverted nares |
14.3% |
1/7 |
| Broad nasal tip |
14.3% |
1/7 |
| Prominent glabella |
14.3% |
1/7 |
| Prominent nose |
14.3% |
1/7 |
| Short nose |
14.3% |
1/7 |
| Underdeveloped nasal alae |
14.3% |
1/7 |
| Abnormality of the mouth |
85.7% |
6/7 |
| Pointed chin |
28.6% |
2/7 |
| Smooth philtrum |
28.6% |
2/7 |
| Abnormality of the gingiva |
14.3% |
1/7 |
| Bilateral cleft lip |
14.3% |
1/7 |
| High palate |
14.3% |
1/7 |
| Thin vermilion border |
14.3% |
1/7 |
| Visual and hearing impairments |
|
|
| Abnormal hearing |
28.6% |
2/7 |
| Bilateral sensorineural hearing impairment |
14.3% |
1/7 |
| Hearing impairment |
14.3% |
1/7 |
| Abnormal vision |
71.4% |
5/7 |
| Abnormality of refraction |
28.6% |
2/7 |
| Abnormality of the optic disc |
14.3% |
1/7 |
| Aplasia/Hypoplasia of the optic nerve |
14.3% |
1/7 |
| Strabismus |
14.3% |
1/7 |
| Heart |
|
|
| Abnormality of the heart |
57.1% |
4/7 |
| Atria septal defect |
28.6% |
2/7 |
| Ventricular septal defect |
28.6% |
2/7 |
| Abnormality of the left ventricular outflow tract |
14.3% |
1/7 |
| Bicuspid aortic valve |
14.3% |
1/7 |
| Coarctation of the descending aortic arch |
14.3% |
1/7 |
| Hypoplastic left heart |
14.3% |
1/7 |
| Persistent patent ductus venosus |
14.3% |
1/7 |
| Right ventricular outlet obstruction |
14.3% |
1/7 |
| Supravalvular aortic stenosis |
14.3% |
1/7 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
57.1% |
4/7 |
| Failure to thrive |
28.6% |
2/7 |
| Gastroesophageal reflux |
28.6% |
2/7 |
| Gastrostomy tube feeding in infancy |
28.6% |
2/7 |
| Chronic constipation |
14.3% |
1/7 |
| Urogenital |
|
|
| Abnormality of the urogenital system |
42.9% |
3/7 |
| Hypogonadism |
14.3% |
1/7 |
| Multicystic kidney dysplasia |
14.3% |
1/7 |
| Vesicoureteral reflux |
14.3% |
1/7 |
| Skeleton |
|
|
| Skeletal abnormalities |
42.9% |
3/7 |
| Clinodactyly of the 5th finger |
28.6% |
2/7 |
| Brachycephaly |
14.3% |
1/7 |
| Broad hallux |
14.3% |
1/7 |
| Pes cavus |
14.3% |
1/7 |
| Scoliosis |
14.3% |
1/7 |
| Short foot |
14.3% |
1/7 |
| Short long bone |
14.3% |
1/7 |
| Tapered finger |
14.3% |
1/7 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
14.3% |
1/7 |
| Eczema |
14.3% |
1/7 |
| Endocrine / Immunological / Metabolic |
|
|
| Abnormality of the endocrine system |
14.3% |
1/7 |
| Abnormal bleeding |
14.3% |
1/7 |
| Decreased serum testosterone level |
14.3% |
1/7 |
| Osteoporosis |
14.3% |
1/7 |
| Abnormality of the metabolic system |
42.9% |
3/7 |
| Hypothyroidism |
28.6% |
2/7 |
| Jaundice |
14.3% |
1/7 |
| Vitamin D deficiency |
14.3% |
1/7 |