CNKSR2

Graph and Chart

Patient Overview : 2

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 100.0% 2/2
Female 0% 0/2
Indifferent 0% 0/2
Unknown 0% 0/2
General    
Birth Length abnormalities 0% 0/2
Birth Weight abnormalities 50.0% 1/2
> P98 : Large for gestational age 50.0% 1/2
Birth Head circumference abnormalities 0% 0/2
Current Height abnormalities 0% 0/2
Current Weight abnormalities 0% 0/2
Current Head circumference abnormalities 50.0% 1/2
> P98 : Macrocephaly 50.0% 1/2
Neurology    
Neurological abnormalities 100.0% 2/2
Absence seizures 50.0% 1/2
Delayed gross motor development 50.0% 1/2
Delayed speech and language development 50.0% 1/2
Dystonia 50.0% 1/2
Generalized seizures 50.0% 1/2
Generalized hypotonia 50.0% 1/2
Myoclonic spasms 50.0% 1/2
Poor gross motor coordination 50.0% 1/2
Sleep apnea 50.0% 1/2
Behavioral problems 100.0% 2/2
Autism 50.0% 1/2
Hyperactivity 50.0% 1/2
Brain abnormality 50.0% 1/2
Abnormality of the periventricular white matter 50.0% 1/2
Abnormality of the cerebral white matter 50.0% 1/2
Abnormality of the corpus callosum 50.0% 1/2
Ventriculomegaly 50.0% 1/2
Gastrointestinal    
Gastrointestinal abnormalities 50.0% 1/2
Chronic diarrhea 50.0% 1/2
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 50.0% 1/2
Abnormally lax or hyperextensible skin 50.0% 1/2