Gender |
|
|
Male |
50.0% |
2/4 |
Female |
50.0% |
2/4 |
Indifferent |
0% |
0/4 |
Unknown |
0% |
0/4 |
Neurology |
|
|
Neurological abnormalities |
66.7% |
2/3 |
Generalized neonatal hypotonia |
33.3% |
1/3 |
Intellectual disability |
33.3% |
1/3 |
Myoclonic spasms |
33.3% |
1/3 |
Neonatal hypotonia |
33.3% |
1/3 |
Severe expressive language delay |
33.3% |
1/3 |
Brain abnormality |
50.0% |
2/4 |
Perisylvian polymicrogyria |
50.0% |
2/4 |
Hypertelorism |
25.0% |
1/4 |
Ventriculomegaly |
25.0% |
1/4 |
Facial abnormalities |
|
|
Abnormality of the ear |
100.0% |
4/4 |
Low-set ears |
50.0% |
2/4 |
Abnormal location of ears |
25.0% |
1/4 |
Abnormality of stem of antihelix |
25.0% |
1/4 |
Abnormally folded helix |
25.0% |
1/4 |
Asymmetry of the ears |
25.0% |
1/4 |
Overfolding of the superior helices |
25.0% |
1/4 |
Short ear |
25.0% |
1/4 |
Abnormality of the eye |
100.0% |
4/4 |
Congenital ptosis |
50.0% |
2/4 |
Downslanted palpebral fissures |
50.0% |
2/4 |
Hypermetropia |
25.0% |
1/4 |
Hypertelorism |
25.0% |
1/4 |
Abnormality of the nose |
25.0% |
1/4 |
Flared nostrils |
25.0% |
1/4 |
Abnormality of the mouth |
25.0% |
1/4 |
Gingival overgrowth |
25.0% |
1/4 |
Mandibular prognathia |
25.0% |
1/4 |
Misalignment of teeth |
25.0% |
1/4 |
Visual and hearing impairments |
|
|
Abnormal hearing |
50.0% |
2/4 |
Cholesteatoma |
25.0% |
1/4 |
Conductive hearing impairment |
25.0% |
1/4 |
Infantile sensorineural hearing impairment |
25.0% |
1/4 |
Unilateral deafness |
25.0% |
1/4 |
Abnormal vision |
66.7% |
2/3 |
Amblyopia |
33.3% |
1/3 |
Hypermetropia |
33.3% |
1/3 |
Heart |
|
|
Abnormality of the heart |
25.0% |
1/4 |
Subaortic stenosis |
25.0% |
1/4 |
Gastrointestinal |
|
|
Gastrointestinal abnormalities |
50.0% |
2/4 |
Constipation |
25.0% |
1/4 |
Feeding difficulties |
25.0% |
1/4 |
Nasogastric tube feeding in infancy |
25.0% |
1/4 |
Urogenital |
|
|
Abnormality of the urogenital system |
33.3% |
1/3 |
Cryptorchidism |
33.3% |
1/3 |
Epididymal cyst |
33.3% |
1/3 |
Hydrocele testis |
33.3% |
1/3 |
Skeleton |
|
|
Skeletal abnormalities |
66.7% |
2/3 |
Narrow greater sacrosciatic notches |
33.3% |
1/3 |
Pectus excavatum of inferior sternum |
33.3% |
1/3 |
Posterior scalloping of vertebral bodies |
33.3% |
1/3 |