SLC45A1

Graph and Chart

Patient Overview : 2

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 0% 0/2
Female 100.0% 2/2
Indifferent 0% 0/2
Unknown 0% 0/2
General    
Birth Length abnormalities 0% 0/2
Birth Weight abnormalities 0% 0/2
Birth Head circumference abnormalities 0% 0/2
Current Height abnormalities 50.0% 1/2
< P3 : Short stature 50.0% 1/2
Current Weight abnormalities 0% 0/2
Current Head circumference abnormalities 0% 0/2
Neurology    
Neurological abnormalities 100.0% 2/2
Focal seizures with impairment of consciousness or awareness 100.0% 2/2
Behavioral problems 100.0% 2/2
Abnormal aggressive, impulsive or violent behavior 50.0% 1/2
Autism 50.0% 1/2
Echolalia 50.0% 1/2
Motor tics 50.0% 1/2
Obsessive-compulsive behavior 50.0% 1/2
Obsessive-compulsive trait 50.0% 1/2
Repetitive compulsive behavior 50.0% 1/2
Facial abnormalities    
Abnormality of the ear 50.0% 1/2
Downslanted palpebral fissures 50.0% 1/2
Abnormality of the eye 100.0% 2/2
Downslanted palpebral fissures 100.0% 2/2
Abnormality of the mouth 100.0% 2/2
Abnormality of upper lip 100.0% 2/2
Smooth philtrum 100.0% 2/2
Gastrointestinal    
Gastrointestinal abnormalities 50.0% 1/2
Gastroesophageal reflux 50.0% 1/2
Skeleton    
Skeletal abnormalities 50.0% 1/2
Scoliosis 50.0% 1/2