Patient Overview : 5

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 40.0% 2/5
Female 60.0% 3/5
General    
Birth Length abnormalities 40.0% 2/5
< P3 : Birth length less than 3rd percentile 40.0% 2/5
Birth Weight abnormalities 20.0% 1/5
< P3 : Small for gestational age 20.0% 1/5
Birth Head circumference abnormalities 100.0% 5/5
< P3 : Congenital microcephaly 100.0% 5/5
Current Height abnormalities 80.0% 4/5
< P3 : Short stature 80.0% 4/5
Current Weight abnormalities 0% 0/4
Current Head circumference abnormalities 100.0% 5/5
< P3 : Microcephaly 100.0% 5/5
Neurology    
Neurological abnormalities 40.0% 2/5
Generalized seizures 40.0% 2/5
Brain abnormality 60.0% 3/5
Pachygyria 60.0% 3/5
Dysplastic corpus callosum 40.0% 2/5
Aplasia/Hypoplasia of the corpus callosum 20.0% 1/5
Visual and hearing impairments    
Abnormal vision 40.0% 2/5
Cortical visual impairment 40.0% 2/5
Gastrointestinal    
Gastrointestinal abnormalities 60.0% 3/5
Gastrostomy tube feeding in infancy 40.0% 2/5
Feeding difficulties in infancy 20.0% 1/5
Skeleton    
Skeletal abnormalities 40.0% 2/5
Compensatory scoliosis 20.0% 1/5
Scoliosis 20.0% 1/5