Patient Overview : 3

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 66.7% 2/3
Female 33.3% 1/3
General    
Birth Length abnormalities 0% 0/3
Birth Weight abnormalities 0% 0/3
Birth Head circumference abnormalities 0% 0/3
Current Height abnormalities 0% 0/3
Current Weight abnormalities 0% 0/3
Current Head circumference abnormalities 100.0% 3/3
< P3 : Microcephaly 100.0% 3/3
Neurology    
Neurological abnormalities 100.0% 3/3
Muscular hypotonia 100.0% 3/3
Infantile spasms 66.7% 2/3
Atonic seizures 33.3% 1/3
Focal tonic seizures 33.3% 1/3
Hypsarrhythmia 33.3% 1/3
Behavioral problems 66.7% 2/3
Aggressive behavior 33.3% 1/3
Hyperactivity 33.3% 1/3
Short attention span 33.3% 1/3
Stereotypic behavior 33.3% 1/3
Stereotypical body rocking 33.3% 1/3
Brain abnormality 66.7% 2/3
Hypoplasia of the corpus callosum 66.7% 2/3
Facial abnormalities    
Abnormality of the ear 66.7% 2/3
Low-set ears 33.3% 1/3
Posteriorly rotated ears 33.3% 1/3
Abnormality of the eye 66.7% 2/3
Periorbital hyperpigmentation 66.7% 2/3
Long eyelashes 33.3% 1/3
Abnormality of the nose 100.0% 3/3
Bulbous nose 66.7% 2/3
Large beaked nose 33.3% 1/3
Prominent nose 33.3% 1/3
Abnormality of the mouth 100.0% 3/3
High palate 66.7% 2/3
Conical tooth 33.3% 1/3
Mandibular prognathia 33.3% 1/3
Skeleton    
Skeletal abnormalities 33.3% 1/3
Joint hyperflexibility 33.3% 1/3
Thoracic scoliosis 33.3% 1/3
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 33.3% 1/3
Thick hair 33.3% 1/3