PTPN23

Graph and Chart

Patient Overview : 2

Frequency of all clinical findings

Percentage Cases
Gender    
Male 0% 0/2
Female 100.0% 2/2
Indifferent 0% 0/2
Unknown 0% 0/2
General    
Birth Length abnormalities 0% 0/1
Birth Weight abnormalities 0% 0/2
Birth Head circumference abnormalities 100.0% 1/1
< P3 : Congenital microcephaly 100.0% 1/1
Current Height abnormalities 0% 0/2
Current Weight abnormalities 0% 0/2
Current Head circumference abnormalities 100.0% 2/2
< P3 : Microcephaly 100.0% 2/2
Neurology    
Neurological abnormalities 100.0% 2/2
Central hypotonia 100.0% 2/2
Limb hypertonia 100.0% 2/2
Seizures 100.0% 2/2
Autonomic dysregulation 50.0% 1/2
Clonus 50.0% 1/2
Dystonia 50.0% 1/2
Poor suck 50.0% 1/2
Progressive spasticity 50.0% 1/2
Brain abnormality 100.0% 2/2
Brain atrophy 100.0% 2/2
Aplasia/Hypoplasia of the corpus callosum 50.0% 1/2
Aplasia/Hypoplasia of the optic nerve 50.0% 1/2
CNS demyelination 50.0% 1/2
CNS hypomyelination 50.0% 1/2
Delayed myelination 50.0% 1/2
Dilation of lateral ventricles 50.0% 1/2
EEG with generalized polyspikes 50.0% 1/2
EEG with generalized spikes 50.0% 1/2
EEG with generalized slow activity 50.0% 1/2
EEG with focal epileptiform discharges 50.0% 1/2
Encephalopathy 50.0% 1/2
Epileptic encephalopathy 50.0% 1/2
Hypsarrhythmia 50.0% 1/2
Optic nerve hypoplasia 50.0% 1/2
Visual and hearing impairments    
Abnormal vision 100.0% 2/2
Abnormality of eye movement 100.0% 2/2
Abnormality of visual evoked potentials 50.0% 1/2
Nystagmus 50.0% 1/2
Visual impairment 50.0% 1/2
Gastrointestinal    
Gastrointestinal abnormalities 100.0% 1/1
Constipation 100.0% 1/1
Dysphagia 100.0% 1/1
Gastrointestinal dysmotility 100.0% 1/1
Gastroesophageal reflux 100.0% 1/1
Endocrine / Immunological / Metabolic    
Abnormality of the endocrine system 100.0% 1/1
Hirsutism 100.0% 1/1
Premature thelarche 100.0% 1/1