Patient Overview : 3

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 100.0% 3/3
Female 0% 0/3
General    
Birth Length abnormalities 0% 0/3
Birth Weight abnormalities 0% 0/3
Birth Head circumference abnormalities 0% 0/3
Current Height abnormalities 0% 0/3
Current Weight abnormalities 0% 0/3
Current Head circumference abnormalities 0% 0/3
Neurology    
Neurological abnormalities 100.0% 3/3
Abnormality of vision 100.0% 3/3
Dysphagia 100.0% 3/3
Infantile axial hypotonia 100.0% 3/3
Nystagmus 100.0% 3/3
Seizures 100.0% 3/3
Apnea 33.3% 1/3
Behavioral problems 100.0% 3/3
Delayed speech and language development 100.0% 3/3
Motor delay 100.0% 3/3
No social interaction 100.0% 3/3
Brain abnormality 100.0% 3/3
Cerebral white matter hypoplasia 100.0% 3/3
Cerebral cortical atrophy 100.0% 3/3
Hypoplasia of the corpus callosum 100.0% 3/3
Pontocerebellar atrophy 100.0% 3/3
Ventriculomegaly 100.0% 3/3
Facial abnormalities    
Abnormality of the eye 33.3% 1/3
Microphthalmia 33.3% 1/3
Visual and hearing impairments    
Abnormal vision 100.0% 3/3
Abnormality of vision 100.0% 3/3
Pulmonary    
Abnormality of the lungs 100.0% 3/3
Recurrent aspiration pneumonia 100.0% 3/3
Gastrointestinal    
Gastrointestinal abnormalities 33.3% 1/3
Aganglionic megacolon 33.3% 1/3