Gender |
|
|
Male |
88.9% |
8/9 |
Female |
11.1% |
1/9 |
Indifferent |
0% |
0/9 |
Unknown |
0% |
0/9 |
Neurology |
|
|
Neurological abnormalities |
77.8% |
7/9 |
Central hypotonia |
77.8% |
7/9 |
Ataxia |
11.1% |
1/9 |
Epileptic encephalopathy |
11.1% |
1/9 |
Generalized myoclonic seizures |
11.1% |
1/9 |
Infantile spasms |
11.1% |
1/9 |
Progressive spasticity |
11.1% |
1/9 |
Seizures |
11.1% |
1/9 |
Tremor |
11.1% |
1/9 |
Behavioral problems |
55.6% |
5/9 |
Autism |
33.3% |
3/9 |
Aggressive behavior |
22.2% |
2/9 |
Hyperactivity |
22.2% |
2/9 |
Anxiety |
11.1% |
1/9 |
Attention deficit hyperactivity disorder |
11.1% |
1/9 |
Brain abnormality |
50.0% |
4/8 |
Abnormality of midbrain morphology |
12.5% |
1/8 |
Abnormality of the periventricular white matter |
12.5% |
1/8 |
Abnormal cortical gyration |
12.5% |
1/8 |
Aplasia/Hypoplasia of the corpus callosum |
12.5% |
1/8 |
Cerebellar atrophy |
12.5% |
1/8 |
Corpus callosum atrophy |
12.5% |
1/8 |
Delayed CNS myelination |
12.5% |
1/8 |
Delayed myelination |
12.5% |
1/8 |
Facial abnormalities |
|
|
Abnormality of the ear |
12.5% |
1/8 |
Low-set ears |
12.5% |
1/8 |
Abnormality of the eye |
25.0% |
2/8 |
Depressed nasal bridge |
12.5% |
1/8 |
Nystagmus |
12.5% |
1/8 |
Prominent epicanthal folds |
12.5% |
1/8 |
Abnormality of the mouth |
12.5% |
1/8 |
Abnormality of the palate |
12.5% |
1/8 |
Visual and hearing impairments |
|
|
Abnormal hearing |
25.0% |
2/8 |
Bilateral sensorineural hearing impairment |
12.5% |
1/8 |
Chronic otitis media |
12.5% |
1/8 |
Abnormal vision |
22.2% |
2/9 |
Cortical visual impairment |
11.1% |
1/9 |
Myopia |
11.1% |
1/9 |
Visual impairment |
11.1% |
1/9 |
Gastrointestinal |
|
|
Gastrointestinal abnormalities |
11.1% |
1/9 |
Gastrostomy tube feeding in infancy |
11.1% |
1/9 |
Gastroesophageal reflux |
11.1% |
1/9 |
Urogenital |
|
|
Abnormality of the urogenital system |
22.2% |
2/9 |
Hypospadias |
11.1% |
1/9 |
Recurrent urinary tract infections |
11.1% |
1/9 |
Urinary retention |
11.1% |
1/9 |
Skeleton |
|
|
Skeletal abnormalities |
44.4% |
4/9 |
Bilateral coxa valga |
11.1% |
1/9 |
Generalized joint laxity |
11.1% |
1/9 |
Hip Subluxation |
11.1% |
1/9 |
Pes planus |
11.1% |
1/9 |
Short stature |
11.1% |
1/9 |
Endocrine / Immunological / Metabolic |
|
|
Abnormality of the endocrine system |
11.1% |
1/9 |
Short stature |
11.1% |
1/9 |