PCGF2

Graph and Chart

Patient Overview : 1

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 100.0% 1/1
Female 0% 0/1
Neurology    
Neurological abnormalities 100.0% 1/1
Muscular hypotonia 100.0% 1/1
Poor coordination 100.0% 1/1
Brain abnormality 100.0% 1/1
Abnormality of the cerebral white matter 100.0% 1/1
Aplasia/Hypoplasia of the corpus callosum 100.0% 1/1
Facial abnormalities    
Abnormality of the ear 100.0% 1/1
Satyr ear 100.0% 1/1
Abnormality of the eye 100.0% 1/1
Downslanted palpebral fissures 100.0% 1/1
Small palpebral fissure 100.0% 1/1
Abnormality of the nose 100.0% 1/1
Prominent nasal tip 100.0% 1/1
Abnormality of the mouth 100.0% 1/1
High palate 100.0% 1/1
Narrow mouth 100.0% 1/1
Visual and hearing impairments    
Abnormal hearing 100.0% 1/1
Conductive hearing impairment 100.0% 1/1
Heart    
Abnormality of the heart 100.0% 1/1
Aortic root dilatation 100.0% 1/1
Gastrointestinal    
Gastrointestinal abnormalities 100.0% 1/1
Constipation 100.0% 1/1
Drooling 100.0% 1/1
Feeding difficulties in infancy 100.0% 1/1
Skeleton    
Skeletal abnormalities 100.0% 1/1
Calcaneovalgus deformity 100.0% 1/1
Delayed epiphyseal ossification 100.0% 1/1
Pseudoepiphyses of the metacarpals 100.0% 1/1
Tapering pointed ends of distal finger phalanges 100.0% 1/1
Thoracolumbar kyphosis 100.0% 1/1
Vertebral hypoplasia 100.0% 1/1
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 100.0% 1/1
Sparse scalp hair 100.0% 1/1