Patient Overview : 5

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 40.0% 2/5
Female 60.0% 3/5
Neurology    
Neurological abnormalities 100.0% 5/5
Central hypotonia 40.0% 2/5
Abnormal muscle tone 20.0% 1/5
Craniofacial dystonia 20.0% 1/5
EEG with generalized epileptiform discharges 20.0% 1/5
Focal motor seizures 20.0% 1/5
Generalized tonic seizures 20.0% 1/5
Irritability 20.0% 1/5
Spastic tetraplegia 20.0% 1/5
Behavioral problems 50.0% 1/2
Autism 50.0% 1/2
Echolalia 50.0% 1/2
Impaired use of nonverbal behaviors 50.0% 1/2
Low frustration tolerance 50.0% 1/2
Brain abnormality 80.0% 4/5
Abnormality of the cerebral white matter 40.0% 2/5
Aplasia of the inferior half of the cerebellar vermis 20.0% 1/5
Cerebral hypoplasia 20.0% 1/5
Dilated third ventricle 20.0% 1/5
Ventriculomegaly 20.0% 1/5
Facial abnormalities    
Abnormality of the ear 40.0% 2/5
Abnormal location of ears 20.0% 1/5
Large fleshy ears 20.0% 1/5
Abnormality of the eye 60.0% 3/5
Large eyes 40.0% 2/5
Blindness 20.0% 1/5
Abnormality of the nose 20.0% 1/5
Depressed nasal tip 20.0% 1/5
Abnormality of the mouth 40.0% 2/5
Micrognathia 20.0% 1/5
Tented upper lip vermilion 20.0% 1/5
Visual and hearing impairments    
Abnormal hearing 33.3% 1/3
Unilateral deafness 33.3% 1/3
Abnormal vision 60.0% 3/5
Blindness 20.0% 1/5
Glaucoma 20.0% 1/5
Horizontal nystagmus 20.0% 1/5
Retinopathy 20.0% 1/5
Vertical nystagmus 20.0% 1/5
Heart    
Abnormality of the heart 20.0% 1/5
Abnormality of the ventricular septum 20.0% 1/5
Gastrointestinal    
Gastrointestinal abnormalities 100.0% 5/5
Gastroesophageal reflux 60.0% 3/5
Failure to thrive 40.0% 2/5
Abdominal colic 20.0% 1/5
Acute constipation 20.0% 1/5
Chronic constipation 20.0% 1/5
Constipation 20.0% 1/5
Episodic vomiting 20.0% 1/5
Feeding difficulties 20.0% 1/5
Poor appetite 20.0% 1/5
Vomiting 20.0% 1/5
Urogenital    
Abnormality of the urogenital system 40.0% 2/5
Bifid scrotum 20.0% 1/5
Hydrocele testis 20.0% 1/5
Hypospadias 20.0% 1/5
Partially duplicated kidney 20.0% 1/5
Skeleton    
Skeletal abnormalities 20.0% 1/5
Posterior plagiocephaly 20.0% 1/5
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 40.0% 2/5
Cutis marmorata 20.0% 1/5
Sparse anterior scalp hair 20.0% 1/5
Umbilical hernia 20.0% 1/5
Endocrine / Immunological / Metabolic    
Abnormality of the immune system 25.0% 1/4
Severe recurrent varicella 25.0% 1/4