CEP120

Graph and Chart

Patient Overview : 6

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 66.7% 4/6
Female 33.3% 2/6
Indifferent 0% 0/6
Unknown 0% 0/6
General    
Birth Length abnormalities 0% 0/12
Birth Weight abnormalities 0% 0/12
Birth Head circumference abnormalities 0% 0/12
Current Height abnormalities 0% 0/12
Current Weight abnormalities 0% 0/12
Current Head circumference abnormalities 0% 0/12
Neurology    
Neurological abnormalities 100.0% 4/4
Muscular hypotonia 100.0% 4/4
Truncal ataxia 50.0% 2/4
Duane anomaly 25.0% 1/4
Nystagmus 25.0% 1/4
Oculomotor apraxia 25.0% 1/4
Brain abnormality 100.0% 6/6
Molar tooth sign on MRI 83.3% 5/6
Occipital encephalocele 33.3% 2/6
Widened posterior fossa 33.3% 2/6
Aplasia/Hypoplasia of the corpus callosum 16.7% 1/6
Ventriculomegaly 16.7% 1/6
Facial abnormalities    
Abnormality of the eye 16.7% 1/6
Microphthalmia 16.7% 1/6
Abnormality of the mouth 33.3% 2/6
Cleft palate 33.3% 2/6
Abnormality of oral frenula 16.7% 1/6
Lobulated tongue 16.7% 1/6
Visual and hearing impairments    
Abnormal vision 25.0% 1/4
Strabismus 25.0% 1/4
Skeleton    
Skeletal abnormalities 33.3% 2/6
Bell-shaped thorax 33.3% 2/6
Mesomelic/rhizomelic limb shortening 33.3% 2/6
Short ribs 33.3% 2/6
Bowing of the long bones 16.7% 1/6
Brachydactyly syndrome 16.7% 1/6
Clinodactyly 16.7% 1/6
Postaxial hand polydactyly 16.7% 1/6
Preaxial foot polydactyly 16.7% 1/6
Sandal gap 16.7% 1/6
Endocrine / Immunological / Metabolic    
Abnormality of the endocrine system 16.7% 1/6
Ambiguous genitalia 16.7% 1/6
Abnormality of the metabolic system 16.7% 1/6
Renal cyst 16.7% 1/6