| Gender |
|
|
| Male |
0% |
0/4 |
| Female |
100.0% |
4/4 |
| General |
|
|
| Birth Length abnormalities |
28.6% |
2/7 |
| < P3 : Birth length less than 3rd percentile |
28.6% |
2/7 |
| Birth Weight abnormalities |
28.6% |
2/7 |
| < P3 : Small for gestational age |
28.6% |
2/7 |
| Birth Head circumference abnormalities |
42.9% |
3/7 |
| < P3 : Congenital microcephaly |
42.9% |
3/7 |
| Current Height abnormalities |
42.9% |
3/7 |
| < P3 : Short stature |
42.9% |
3/7 |
| Current Weight abnormalities |
14.3% |
1/7 |
| < P3 : Decreased body weight |
14.3% |
1/7 |
| Current Head circumference abnormalities |
100.0% |
7/7 |
| < P3 : Microcephaly |
100.0% |
7/7 |
| Neurology |
|
|
| Neurological abnormalities |
71.4% |
5/7 |
| Hyperkinesis |
57.1% |
4/7 |
| Dysarthria |
14.3% |
1/7 |
| Focal seizures |
14.3% |
1/7 |
| Generalized tonic-clonic seizures |
14.3% |
1/7 |
| Microcephaly |
14.3% |
1/7 |
| Muscular hypotonia |
14.3% |
1/7 |
| Myotonia |
14.3% |
1/7 |
| Brain abnormality |
83.3% |
5/6 |
| Cerebellar vermis hypoplasia |
50.0% |
3/6 |
| Abnormality of the corpus callosum |
16.7% |
1/6 |
| Abnormality of the fourth ventricle |
16.7% |
1/6 |
| Cerebellar gliosis |
16.7% |
1/6 |
| Cortical gyral simplification |
16.7% |
1/6 |
| Enlarged cisterna magna |
16.7% |
1/6 |
| Transient ischemic attack |
16.7% |
1/6 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
14.3% |
1/7 |
| Protruding ear |
14.3% |
1/7 |
| Abnormality of the eye |
85.7% |
6/7 |
| Upslanted palpebral fissure |
57.1% |
4/7 |
| Anisocoria |
14.3% |
1/7 |
| Hypoplasia of the iris |
14.3% |
1/7 |
| Microphthalmia |
14.3% |
1/7 |
| Optic atrophy |
14.3% |
1/7 |
| Optic nerve coloboma |
14.3% |
1/7 |
| Palpebral edema |
14.3% |
1/7 |
| Abnormality of the nose |
28.6% |
2/7 |
| Bulbous nose |
14.3% |
1/7 |
| Long philtrum |
14.3% |
1/7 |
| Short columella |
14.3% |
1/7 |
| Abnormality of the mouth |
28.6% |
2/7 |
| Mandibular prognathia |
14.3% |
1/7 |
| Midface retrusion |
14.3% |
1/7 |
| Misalignment of teeth |
14.3% |
1/7 |
| Wide mouth |
14.3% |
1/7 |
| Visual and hearing impairments |
|
|
| Abnormal vision |
50.0% |
3/6 |
| Microphthalmia |
16.7% |
1/6 |
| Myopia |
16.7% |
1/6 |
| Retinal pigment epithelial atrophy |
16.7% |
1/6 |
| Urogenital |
|
|
| Abnormality of the urogenital system |
57.1% |
4/7 |
| Gonadal dysgenesis |
42.9% |
3/7 |
| Sex reversal |
42.9% |
3/7 |
| Abnormal external genitalia |
28.6% |
2/7 |
| Abnormality of the urethra |
14.3% |
1/7 |
| Abnormality of the epididymis |
14.3% |
1/7 |
| Aplasia of the uterus |
14.3% |
1/7 |
| Aplasia of the ovary |
14.3% |
1/7 |
| Hypoplastic labia minora |
14.3% |
1/7 |
| Hypoplastic labia majora |
14.3% |
1/7 |
| Microphallus |
14.3% |
1/7 |
| Primary amenorrhea |
14.3% |
1/7 |
| Testicular dysgenesis |
14.3% |
1/7 |
| Skeleton |
|
|
| Skeletal abnormalities |
85.7% |
6/7 |
| Brachydactyly syndrome |
57.1% |
4/7 |
| Narrow iliac wings |
57.1% |
4/7 |
| Enlarged epiphyses |
42.9% |
3/7 |
| Bell-shaped thorax |
28.6% |
2/7 |
| Enlarged metaphyses |
28.6% |
2/7 |
| Nail dysplasia |
28.6% |
2/7 |
| Short distal phalanx of finger |
28.6% |
2/7 |
| Thin clavicles |
28.6% |
2/7 |
| Trapezoidal shaped vertebral bodies |
28.6% |
2/7 |
| Abnormality of the vertebrae |
14.3% |
1/7 |
| Abnormality of the metaphyses |
14.3% |
1/7 |
| Abnormality of the femoral neck |
14.3% |
1/7 |
| Abnormality of skeletal maturation |
14.3% |
1/7 |
| Broad metatarsal |
14.3% |
1/7 |
| Capitate-hamate fusion |
14.3% |
1/7 |
| Clinodactyly of the 5th finger |
14.3% |
1/7 |
| Distal widening of metacarpals |
14.3% |
1/7 |
| Joint laxity |
14.3% |
1/7 |
| Micromelia |
14.3% |
1/7 |
| Scoliosis |
14.3% |
1/7 |
| Severe short stature |
14.3% |
1/7 |
| Short long bone |
14.3% |
1/7 |
| Short phalanx of finger |
14.3% |
1/7 |
| Short ribs |
14.3% |
1/7 |
| Spinal rigidity |
14.3% |
1/7 |
| Spondylolisthesis at L5-S1 |
14.3% |
1/7 |
| Thin ribs |
14.3% |
1/7 |
| Thin long bone diaphyses |
14.3% |
1/7 |
| Type A brachydactyly |
14.3% |
1/7 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
28.6% |
2/7 |
| Hirsutism |
14.3% |
1/7 |
| Multiple cafe-au-lait spots |
14.3% |
1/7 |
| Endocrine / Immunological / Metabolic |
|
|
| Abnormality of the endocrine system |
42.9% |
3/7 |
| Decreased serum testosterone level |
14.3% |
1/7 |
| Hypergonadotropic hypogonadism |
14.3% |
1/7 |
| Increased serum testosterone level |
14.3% |
1/7 |
| Abnormality of the metabolic system |
57.1% |
4/7 |
| Elevated serum creatine phosphokinase |
57.1% |
4/7 |
| Hypercholesterolemia |
14.3% |
1/7 |
| Neoplasia |
|
|
| Neoplasia |
14.3% |
1/7 |
| Testicular seminoma |
14.3% |
1/7 |