Gender |
|
|
Male |
0% |
0/6 |
Female |
66.7% |
4/6 |
Indifferent |
33.3% |
2/6 |
Unknown |
0% |
0/6 |
Neurology |
|
|
Neurological abnormalities |
83.3% |
5/6 |
Hyperkinesis |
66.7% |
4/6 |
Dysarthria |
16.7% |
1/6 |
Focal seizures |
16.7% |
1/6 |
Generalized tonic-clonic seizures |
16.7% |
1/6 |
Microcephaly |
16.7% |
1/6 |
Muscular hypotonia |
16.7% |
1/6 |
Myotonia |
16.7% |
1/6 |
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 |
16.7% |
1/6 |
Protruding ear |
16.7% |
1/6 |
Abnormality of the eye |
100.0% |
6/6 |
Upslanted palpebral fissure |
66.7% |
4/6 |
Anisocoria |
16.7% |
1/6 |
Hypoplasia of the iris |
16.7% |
1/6 |
Microphthalmia |
16.7% |
1/6 |
Optic atrophy |
16.7% |
1/6 |
Optic nerve coloboma |
16.7% |
1/6 |
Palpebral edema |
16.7% |
1/6 |
Abnormality of the nose |
33.3% |
2/6 |
Bulbous nose |
16.7% |
1/6 |
Long philtrum |
16.7% |
1/6 |
Short columella |
16.7% |
1/6 |
Abnormality of the mouth |
33.3% |
2/6 |
Mandibular prognathia |
16.7% |
1/6 |
Midface retrusion |
16.7% |
1/6 |
Misalignment of teeth |
16.7% |
1/6 |
Wide mouth |
16.7% |
1/6 |
Visual and hearing impairments |
|
|
Abnormal vision |
60.0% |
3/5 |
Microphthalmia |
20.0% |
1/5 |
Myopia |
20.0% |
1/5 |
Retinal pigment epithelial atrophy |
20.0% |
1/5 |
Urogenital |
|
|
Abnormality of the urogenital system |
50.0% |
3/6 |
Sex reversal |
50.0% |
3/6 |
Gonadal dysgenesis |
33.3% |
2/6 |
Abnormal external genitalia |
16.7% |
1/6 |
Abnormality of the epididymis |
16.7% |
1/6 |
Aplasia of the ovary |
16.7% |
1/6 |
Aplasia of the uterus |
16.7% |
1/6 |
Hypoplastic labia majora |
16.7% |
1/6 |
Hypoplastic labia minora |
16.7% |
1/6 |
Microphallus |
16.7% |
1/6 |
Primary amenorrhea |
16.7% |
1/6 |
Testicular dysgenesis |
16.7% |
1/6 |
Skeleton |
|
|
Skeletal abnormalities |
100.0% |
6/6 |
Brachydactyly syndrome |
66.7% |
4/6 |
Narrow iliac wings |
66.7% |
4/6 |
Enlarged epiphyses |
50.0% |
3/6 |
Bell-shaped thorax |
33.3% |
2/6 |
Enlarged metaphyses |
33.3% |
2/6 |
Nail dysplasia |
33.3% |
2/6 |
Short distal phalanx of finger |
33.3% |
2/6 |
Thin clavicles |
33.3% |
2/6 |
Trapezoidal shaped vertebral bodies |
33.3% |
2/6 |
Abnormality of skeletal maturation |
16.7% |
1/6 |
Abnormality of the metaphyses |
16.7% |
1/6 |
Abnormality of the femoral neck |
16.7% |
1/6 |
Abnormality of the vertebrae |
16.7% |
1/6 |
Broad metatarsal |
16.7% |
1/6 |
Capitate-hamate fusion |
16.7% |
1/6 |
Clinodactyly of the 5th finger |
16.7% |
1/6 |
Distal widening of metacarpals |
16.7% |
1/6 |
Joint laxity |
16.7% |
1/6 |
Micromelia |
16.7% |
1/6 |
Scoliosis |
16.7% |
1/6 |
Severe short stature |
16.7% |
1/6 |
Short long bone |
16.7% |
1/6 |
Short phalanx of finger |
16.7% |
1/6 |
Short ribs |
16.7% |
1/6 |
Spinal rigidity |
16.7% |
1/6 |
Spondylolisthesis at L5-S1 |
16.7% |
1/6 |
Thin long bone diaphyses |
16.7% |
1/6 |
Thin ribs |
16.7% |
1/6 |
Type A brachydactyly |
16.7% |
1/6 |
Skin / Hair / Nails |
|
|
Abnormality of the skin/hair/nails |
16.7% |
1/6 |
Hirsutism |
16.7% |
1/6 |
Endocrine / Immunological / Metabolic |
|
|
Abnormality of the endocrine system |
33.3% |
2/6 |
Hypergonadotropic hypogonadism |
16.7% |
1/6 |
Increased serum testosterone level |
16.7% |
1/6 |
Abnormality of the metabolic system |
66.7% |
4/6 |
Elevated serum creatine phosphokinase |
66.7% |
4/6 |
Hypercholesterolemia |
16.7% |
1/6 |
Neoplasia |
|
|
Neoplasia |
16.7% |
1/6 |
Testicular seminoma |
16.7% |
1/6 |