Patient Overview : 9

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 88.9% 8/9
Female 11.1% 1/9
Neurology    
Neurological abnormalities 77.8% 7/9
Central hypotonia 77.8% 7/9
Tremor 11.1% 1/9
Seizures 11.1% 1/9
Progressive spasticity 11.1% 1/9
Ataxia 11.1% 1/9
Epileptic encephalopathy 11.1% 1/9
Infantile spasms 11.1% 1/9
Generalized myoclonic seizures 11.1% 1/9
Behavioral problems 55.6% 5/9
Autism 33.3% 3/9
Anxiety 11.1% 1/9
Aggressive behavior 22.2% 2/9
Hyperactivity 22.2% 2/9
Attention deficit hyperactivity disorder 11.1% 1/9
Brain abnormality 50.0% 4/8
Aplasia/Hypoplasia of the corpus callosum 12.5% 1/8
Abnormal cortical gyration 12.5% 1/8
Abnormality of the periventricular white matter 12.5% 1/8
Delayed myelination 12.5% 1/8
Abnormality of midbrain morphology 12.5% 1/8
Delayed CNS myelination 12.5% 1/8
Cerebellar atrophy 12.5% 1/8
Corpus callosum atrophy 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
Nystagmus 12.5% 1/8
Prominent epicanthal folds 12.5% 1/8
Depressed nasal bridge 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
Chronic otitis media 12.5% 1/8
Bilateral sensorineural hearing impairment 12.5% 1/8
Abnormal vision 22.2% 2/9
Cortical visual impairment 11.1% 1/9
Visual impairment 11.1% 1/9
Myopia 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
Short stature 11.1% 1/9
Hip Subluxation 11.1% 1/9
Generalized joint laxity 11.1% 1/9
Pes planus 11.1% 1/9
Bilateral coxa valga 11.1% 1/9
Endocrine / Immunological / Metabolic    
Abnormality of the endocrine system 11.1% 1/9
Short stature 11.1% 1/9