Patient Overview : 4

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 50.0% 2/4
Female 50.0% 2/4
Neurology    
Neurological abnormalities 25.0% 1/4
Abnormality of the corpus callosum 25.0% 1/4
Global developmental delay 25.0% 1/4
Stereotypic behavior 25.0% 1/4
Behavioral problems 50.0% 2/4
Abnormal aggressive, impulsive or violent behavior 25.0% 1/4
Sleep disturbance 50.0% 2/4
Brain abnormality 33.3% 1/3
Abnormality of the corpus callosum 33.3% 1/3
Facial abnormalities    
Abnormality of the ear 50.0% 2/4
Prominent ear helix 25.0% 1/4
Low-set ears 25.0% 1/4
Abnormality of the eye 100.0% 4/4
Thick eyebrow 25.0% 1/4
Long eyelashes 25.0% 1/4
Hypertelorism 25.0% 1/4
Abnormality of the eyebrow 25.0% 1/4
Abnormality of the eyelashes 25.0% 1/4
Abnormality of the nose 50.0% 2/4
Broad nasal tip 25.0% 1/4
Bulbous nose 25.0% 1/4
Anteverted nares 25.0% 1/4
Low hanging columella 25.0% 1/4
Deep philtrum 25.0% 1/4
Abnormality of upper lip 25.0% 1/4
Abnormality of lower lip 25.0% 1/4
Abnormality of mouth size 25.0% 1/4
Diastema 25.0% 1/4
Abnormality of the mouth 25.0% 1/4
Wide mouth 25.0% 1/4
Visual and hearing impairments    
Abnormal vision 33.3% 1/3
Hyperopic astigmatism 33.3% 1/3
Heart    
Abnormality of the heart 50.0% 2/4
Abnormality of the atrial septum 25.0% 1/4
Abnormality of the mitral valve 25.0% 1/4
Patent foramen ovale 25.0% 1/4
Gastrointestinal    
Gastrointestinal abnormalities 50.0% 2/4
Failure to thrive in infancy 25.0% 1/4
Constipation 50.0% 2/4
Urogenital    
Abnormality of the urogenital system 50.0% 2/4
Hydronephrosis 25.0% 1/4
Hypospadias 25.0% 1/4
Cryptorchidism 25.0% 1/4
Skeleton    
Skeletal abnormalities 100.0% 4/4
Abnormality of digit 75.0% 3/4
Scoliosis 25.0% 1/4
Hernia 25.0% 1/4
Umbilical hernia 25.0% 1/4
Inguinal hernia 25.0% 1/4
Joint hypermobility 25.0% 1/4
Abnormality of the distal phalanges of the toes 25.0% 1/4
Prominent interphalangeal joints 25.0% 1/4
Abnormality of the thumb 25.0% 1/4
Abnormality of the hallux 25.0% 1/4
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 50.0% 2/4
Aplasia/Hypoplasia of the nails 25.0% 1/4
Generalized hypertrichosis 25.0% 1/4
Abnormal hair quantity 25.0% 1/4
Abnormality of the fingernails 25.0% 1/4
Abnormality of the toenails 25.0% 1/4