CAMK2B

Graph and Chart

Patient Overview : 4

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 0% 0/4
Female 100.0% 4/4
Neurology    
Neurological abnormalities 75.0% 3/4
Generalized tonic-clonic seizures 50.0% 2/4
Migraine 25.0% 1/4
Extra-axial cerebrospinal fluid accumulation 25.0% 1/4
Multifocal epileptiform discharges 25.0% 1/4
Focal seizures with impairment of consciousness or awareness 25.0% 1/4
Absence seizures 25.0% 1/4
Status epilepticus 25.0% 1/4
Generalized hypotonia 25.0% 1/4
Behavioral problems 100.0% 2/2
Autistic behavior 50.0% 1/2
Abnormal aggressive, impulsive or violent behavior 50.0% 1/2
Self-mutilation 50.0% 1/2
Short attention span 50.0% 1/2
Hyperactivity 50.0% 1/2
Brain abnormality 50.0% 2/4
Abnormality of the meninges 25.0% 1/4
Cortical dysplasia 25.0% 1/4
Facial abnormalities    
Abnormality of the ear 25.0% 1/4
Protruding ear 25.0% 1/4
Abnormality of the eye 50.0% 2/4
Strabismus 25.0% 1/4
Abnormality of refraction 25.0% 1/4
Abnormality of the nose 25.0% 1/4
Synophrys 25.0% 1/4
Abnormality of the mouth 25.0% 1/4
Thick lower lip vermilion 25.0% 1/4
Visual and hearing impairments    
Abnormal vision 50.0% 2/4
Hypermetropia 25.0% 1/4
Astigmatism 25.0% 1/4
Abnormality of refraction 25.0% 1/4
Heart    
Abnormality of the heart 25.0% 1/4
Prolonged QT interval 25.0% 1/4
Gastrointestinal    
Gastrointestinal abnormalities 50.0% 2/4
Feeding difficulties 25.0% 1/4
Chronic constipation 25.0% 1/4
Skeleton    
Skeletal abnormalities 25.0% 1/4
Generalized hypotonia 25.0% 1/4
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 75.0% 3/4
Ectodermal dysplasia 25.0% 1/4
Sparse hair 25.0% 1/4
Delayed eruption of primary teeth 25.0% 1/4
Thin nail 25.0% 1/4
Hirsutism 25.0% 1/4
Eczema 25.0% 1/4
Endocrine / Immunological / Metabolic    
Abnormality of the endocrine system 25.0% 1/4
Hypothyroidism 25.0% 1/4
Neoplasia    
Neoplasia 25.0% 1/4
Abnormality of the mediastinum 25.0% 1/4