| Gender |
|
|
| Male |
66.7% |
6/9 |
| Female |
33.3% |
3/9 |
| General |
|
|
| Birth Length abnormalities |
0% |
0/9 |
| Birth Weight abnormalities |
0% |
0/9 |
| Birth Head circumference abnormalities |
0% |
0/9 |
| Current Height abnormalities |
22.2% |
2/9 |
| < P3 : Short stature |
22.2% |
2/9 |
| Current Weight abnormalities |
11.1% |
1/9 |
| < P3 : Decreased body weight |
11.1% |
1/9 |
| Current Head circumference abnormalities |
66.7% |
6/9 |
| < P3 : Microcephaly |
66.7% |
6/9 |
| Neurology |
|
|
| Neurological abnormalities |
100.0% |
9/9 |
| Muscular hypotonia |
77.8% |
7/9 |
| Infantile spasms |
55.6% |
5/9 |
| Hypsarrhythmia |
33.3% |
3/9 |
| Seizures |
33.3% |
3/9 |
| Sleep disturbance |
33.3% |
3/9 |
| Generalized tonic seizures |
22.2% |
2/9 |
| Poor head control |
22.2% |
2/9 |
| Spasticity |
22.2% |
2/9 |
| Abnormal autonomic nervous system physiology |
11.1% |
1/9 |
| Appendicular hypotonia |
11.1% |
1/9 |
| Central apnea |
11.1% |
1/9 |
| Central hypotonia |
11.1% |
1/9 |
| Cerebral palsy |
11.1% |
1/9 |
| Chorea |
11.1% |
1/9 |
| Dystonia |
11.1% |
1/9 |
| EEG abnormality |
11.1% |
1/9 |
| EEG with focal epileptiform discharges |
11.1% |
1/9 |
| EEG with intermittent slow activity |
11.1% |
1/9 |
| Febrile seizures |
11.1% |
1/9 |
| Focal seizures |
11.1% |
1/9 |
| Frequent falls |
11.1% |
1/9 |
| Gait imbalance |
11.1% |
1/9 |
| Generalized seizures |
11.1% |
1/9 |
| Hyperreflexia |
11.1% |
1/9 |
| Hypertonia |
11.1% |
1/9 |
| Myoclonus |
11.1% |
1/9 |
| Myotonia |
11.1% |
1/9 |
| Obstructive sleep apnea |
11.1% |
1/9 |
| Sleep myoclonus |
11.1% |
1/9 |
| Behavioral problems |
100.0% |
9/9 |
| Irritability |
88.9% |
8/9 |
| Stereotypic behavior |
77.8% |
7/9 |
| Absent speech |
44.4% |
4/9 |
| Developmental regression |
33.3% |
3/9 |
| Autistic behavior |
22.2% |
2/9 |
| Behavioral abnormality |
22.2% |
2/9 |
| Agitation |
11.1% |
1/9 |
| Drooling |
11.1% |
1/9 |
| Exaggerated startle response |
11.1% |
1/9 |
| Sleep disturbance |
11.1% |
1/9 |
| Brain abnormality |
88.9% |
8/9 |
| Abnormal myelination |
44.4% |
4/9 |
| Abnormality of the cerebral white matter |
22.2% |
2/9 |
| Arachnoid cyst |
22.2% |
2/9 |
| Brain atrophy |
22.2% |
2/9 |
| Hypoplasia of the corpus callosum |
22.2% |
2/9 |
| Ventriculomegaly |
22.2% |
2/9 |
| Abnormality of the basal ganglia |
11.1% |
1/9 |
| Delayed myelination |
11.1% |
1/9 |
| Extra-axial cerebrospinal fluid accumulation |
11.1% |
1/9 |
| Progressive microcephaly |
11.1% |
1/9 |
| Facial abnormalities |
|
|
| Abnormality of the ear |
40.0% |
2/5 |
| Protruding ear |
40.0% |
2/5 |
| Abnormality of the eye |
20.0% |
1/5 |
| Deeply set eye |
20.0% |
1/5 |
| Abnormality of the nose |
60.0% |
3/5 |
| Depressed nasal bridge |
60.0% |
3/5 |
| Anteverted nares |
20.0% |
1/5 |
| Abnormality of the mouth |
40.0% |
2/5 |
| High palate |
40.0% |
2/5 |
| Visual and hearing impairments |
|
|
| Abnormal hearing |
22.2% |
2/9 |
| Sensorineural hearing impairment |
22.2% |
2/9 |
| Mild hearing impairment |
11.1% |
1/9 |
| Abnormal vision |
100.0% |
9/9 |
| Cataract |
33.3% |
3/9 |
| Abnormality of eye movement |
11.1% |
1/9 |
| Anterior subcapsular cataract |
11.1% |
1/9 |
| Congenital cataract |
11.1% |
1/9 |
| Cortical visual impairment |
11.1% |
1/9 |
| Glaucoma |
11.1% |
1/9 |
| Hyperopic astigmatism |
11.1% |
1/9 |
| Hypermetropia |
11.1% |
1/9 |
| Lamellar cataract |
11.1% |
1/9 |
| Nuclear cataract |
11.1% |
1/9 |
| Gastrointestinal |
|
|
| Gastrointestinal abnormalities |
88.9% |
8/9 |
| Gastroesophageal reflux |
44.4% |
4/9 |
| Constipation |
33.3% |
3/9 |
| Dysphagia |
22.2% |
2/9 |
| Feeding difficulties |
11.1% |
1/9 |
| Gastrostomy tube feeding in infancy |
11.1% |
1/9 |
| Oral-pharyngeal dysphagia |
11.1% |
1/9 |
| Severe failure to thrive |
11.1% |
1/9 |
| Vomiting |
11.1% |
1/9 |
| Urogenital |
|
|
| Abnormality of the urogenital system |
11.1% |
1/9 |
| Abnormality of urine homeostasis |
11.1% |
1/9 |
| Recurrent urinary tract infections |
11.1% |
1/9 |
| Urinary retention |
11.1% |
1/9 |
| Skeleton |
|
|
| Skeletal abnormalities |
66.7% |
6/9 |
| Clinodactyly of the 5th finger |
11.1% |
1/9 |
| Congenital hip dislocation |
11.1% |
1/9 |
| Contractures of the joints of the lower limbs |
11.1% |
1/9 |
| Dysharmonic delayed bone age |
11.1% |
1/9 |
| Hip contracture |
11.1% |
1/9 |
| Hip Subluxation |
11.1% |
1/9 |
| Hypoplastic fifth toenail |
11.1% |
1/9 |
| Joint hypermobility |
11.1% |
1/9 |
| Overlapping toe |
11.1% |
1/9 |
| Single transverse palmar crease |
11.1% |
1/9 |
| Thoracolumbar scoliosis |
11.1% |
1/9 |
| Toenail dysplasia |
11.1% |
1/9 |
| Skin / Hair / Nails |
|
|
| Abnormality of the skin/hair/nails |
33.3% |
3/9 |
| Hyperpigmented nevi |
22.2% |
2/9 |
| Cafe-au-lait spot |
11.1% |
1/9 |
| Low anterior hairline |
11.1% |
1/9 |
| Thick eyebrow |
11.1% |
1/9 |
| Endocrine / Immunological / Metabolic |
|
|
| Abnormality of the endocrine system |
11.1% |
1/9 |
| Precocious puberty |
11.1% |
1/9 |
| Abnormality of the metabolic system |
22.2% |
2/9 |
| Abnormality of serum amino acid levels |
22.2% |
2/9 |