| Gender |
|
|
| Male |
50.0% |
2/4 |
| Female |
50.0% |
2/4 |
| General |
|
|
| Birth Length abnormalities |
25.0% |
1/4 |
| < P3 : Birth length less than 3rd percentile |
25.0% |
1/4 |
| Birth Weight abnormalities |
75.0% |
3/4 |
| < P3 : Small for gestational age |
75.0% |
3/4 |
| Birth Head circumference abnormalities |
50.0% |
2/4 |
| < P3 : Congenital microcephaly |
50.0% |
2/4 |
| Current Height abnormalities |
100.0% |
4/4 |
| < P3 : Short stature |
100.0% |
4/4 |
| Current Weight abnormalities |
75.0% |
3/4 |
| < P3 : Decreased body weight |
75.0% |
3/4 |
| Current Head circumference abnormalities |
100.0% |
4/4 |
| < P3 : Microcephaly |
100.0% |
4/4 |
| Neurology |
|
|
| Neurological abnormalities |
100.0% |
4/4 |
| Aplasia/Hypoplasia of the cerebellar vermis |
25.0% |
1/4 |
| Central hypotonia |
25.0% |
1/4 |
| Congenital horizontal nystagmus |
25.0% |
1/4 |
| Congenital nystagmus |
25.0% |
1/4 |
| Febrile seizures |
25.0% |
1/4 |
| Microcephaly |
25.0% |
1/4 |
| Behavioral problems |
33.3% |
1/3 |
| Attention deficit hyperactivity disorder |
33.3% |
1/3 |
| Brain abnormality |
100.0% |
3/3 |
| Agenesis of corpus callosum |
33.3% |
1/3 |
| Cerebellar vermis hypoplasia |
33.3% |
1/3 |
| Partial agenesis of the corpus callosum |
33.3% |
1/3 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
75.0% |
3/4 |
| Abnormal location of ears |
25.0% |
1/4 |
| Abnormality of the pinna |
25.0% |
1/4 |
| Low-set, posteriorly rotated ears |
25.0% |
1/4 |
| Abnormality of the eye |
75.0% |
3/4 |
| Abnormality of the eyebrow |
25.0% |
1/4 |
| Astigmatism |
25.0% |
1/4 |
| Long eyelashes |
25.0% |
1/4 |
| Small palpebral fissure |
25.0% |
1/4 |
| Upslanted palpebral fissure |
25.0% |
1/4 |
| Abnormality of the nose |
50.0% |
2/4 |
| Bulbous nose |
25.0% |
1/4 |
| Depressed nasal bridge |
25.0% |
1/4 |
| Short philtrum |
25.0% |
1/4 |
| Wide nose |
25.0% |
1/4 |
| Abnormality of the mouth |
100.0% |
4/4 |
| Thick lower lip vermilion |
50.0% |
2/4 |
| Thick upper lip vermilion |
50.0% |
2/4 |
| Abnormality of the lip |
25.0% |
1/4 |
| Aplasia/Hypoplasia of the maxilla |
25.0% |
1/4 |
| Cleft palate |
25.0% |
1/4 |
| High, narrow palate |
25.0% |
1/4 |
| Micrognathia |
25.0% |
1/4 |
| Visual and hearing impairments |
|
|
| Abnormal hearing |
66.7% |
2/3 |
| Bilateral sensorineural hearing impairment |
33.3% |
1/3 |
| Low-frequency hearing loss |
33.3% |
1/3 |
| Abnormal vision |
100.0% |
3/3 |
| Myopia |
66.7% |
2/3 |
| Astigmatism |
33.3% |
1/3 |
| Heart |
|
|
| Abnormality of the heart |
25.0% |
1/4 |
| Abnormality of the atrial septum |
25.0% |
1/4 |
| Abnormality of the ventricular septum |
25.0% |
1/4 |
| Pulmonary artery stenosis |
25.0% |
1/4 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
25.0% |
1/4 |
| Enterocolitis |
25.0% |
1/4 |
| Skeleton |
|
|
| Skeletal abnormalities |
100.0% |
4/4 |
| Abnormality of the hallux |
25.0% |
1/4 |
| Absent epiphyses of the distal phalanges of the hand |
25.0% |
1/4 |
| Aplasia/Hypoplasia of the patella |
25.0% |
1/4 |
| Arachnodactyly |
25.0% |
1/4 |
| Broad fingertip |
25.0% |
1/4 |
| Scoliosis |
25.0% |
1/4 |
| Short toe |
25.0% |
1/4 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
100.0% |
4/4 |
| Coarse hair |
50.0% |
2/4 |
| Sparse hair |
50.0% |
2/4 |
| Generalized hypertrichosis |
25.0% |
1/4 |
| Generalized hirsutism |
25.0% |
1/4 |
| Hypoplastic fifth toenail |
25.0% |
1/4 |
| Hypoplastic fifth fingernail |
25.0% |
1/4 |
| Low posterior hairline |
25.0% |
1/4 |
| Narrow nail |
25.0% |
1/4 |
| Thick eyebrow |
25.0% |
1/4 |
| Endocrine / Immunological / Metabolic |
|
|
| Abnormality of the endocrine system |
33.3% |
1/3 |
| Delayed puberty |
33.3% |
1/3 |