Patient Overview : 1

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 100.0% 1/1
Female 0% 0/1
General    
Birth Length abnormalities 0% 0/1
Birth Weight abnormalities 100.0% 1/1
< P3 : Small for gestational age 100.0% 1/1
Birth Head circumference abnormalities 0% 0/1
Current Height abnormalities 0% 0/1
Current Weight abnormalities 0% 0/1
Current Head circumference abnormalities 0% 0/1
Neurology    
Neurological abnormalities 100.0% 1/1
EEG with burst suppression 100.0% 1/1
Encephalopathy 100.0% 1/1
Generalized myoclonic seizures 100.0% 1/1
Generalized hypotonia 100.0% 1/1
Urogenital    
Abnormality of the urogenital system 100.0% 1/1
Cryptorchidism 100.0% 1/1
Hydrocele testis 100.0% 1/1
Micropenis 100.0% 1/1
Skeleton    
Skeletal abnormalities 100.0% 1/1
Arthrogryposis multiplex congenita 100.0% 1/1
Scoliosis 100.0% 1/1
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 100.0% 1/1
Hypertrichosis 100.0% 1/1
Thickened nuchal skin fold 100.0% 1/1
Endocrine / Immunological / Metabolic    
Abnormality of the metabolic system 100.0% 1/1
Abnormality of glycine metabolism 100.0% 1/1