Patient Overview : 2

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 100.0% 2/2
Female 0% 0/2
General    
Birth Length abnormalities 0% 0/1
Birth Weight abnormalities 0% 0/1
Birth Head circumference abnormalities 0% 0/1
Current Height abnormalities 0% 0/1
Current Weight abnormalities 0% 0/1
Current Head circumference abnormalities 100.0% 1/1
< P3 : Microcephaly 100.0% 1/1
Neurology    
Neurological abnormalities 100.0% 2/2
Central hypotonia 100.0% 2/2
Attention deficit hyperactivity disorder 50.0% 1/2
Autism 50.0% 1/2
Inappropriate laughter 50.0% 1/2
Intellectual disability 50.0% 1/2
Seizures 50.0% 1/2
Behavioral problems 100.0% 2/2
Autism 100.0% 2/2
Brain abnormality 100.0% 1/1
Corpus callosum atrophy 100.0% 1/1
Facial abnormalities    
Abnormality of the ear 50.0% 1/2
Strabismus 50.0% 1/2
Abnormality of the mouth 50.0% 1/2
Abnormality of upper lip vermillion 50.0% 1/2
Wide mouth 50.0% 1/2
Visual and hearing impairments    
Abnormal vision 50.0% 1/2
Astigmatism 50.0% 1/2
Gastrointestinal    
Gastrointestinal abnormalities 50.0% 1/2
Failure to thrive 50.0% 1/2
Endocrine / Immunological / Metabolic    
Abnormality of the endocrine system 50.0% 1/2
Growth hormone deficiency 50.0% 1/2
Short stature 50.0% 1/2