FBXL4

Graph and Chart

Patient Overview : 2

Frequency of all clinical findings

Percentage Cases
Gender    
Male 50.0% 1/2
Female 50.0% 1/2
Indifferent 0% 0/2
Unknown 0% 0/2
General    
Birth Length abnormalities 0% 0/0
Birth Weight abnormalities 50.0% 1/2
< P3 : Small for gestational age 50.0% 1/2
Birth Head circumference abnormalities 0% 0/0
Current Height abnormalities 100.0% 1/1
< P3 : Short stature 100.0% 1/1
Current Weight abnormalities 50.0% 1/2
< P3 : Decreased body weight 50.0% 1/2
Current Head circumference abnormalities 100.0% 1/1
< P3 : Microcephaly 100.0% 1/1
Neurology    
Neurological abnormalities 50.0% 1/2
Ataxia 50.0% 1/2
Dysphagia 50.0% 1/2
Dystonia 50.0% 1/2
Generalized hypotonia 50.0% 1/2
Progressive choreoathetosis 50.0% 1/2
Brain abnormality 100.0% 2/2
Abnormality of the cerebral white matter 100.0% 2/2
Cerebral atrophy 100.0% 2/2
Corpus callosum atrophy 100.0% 2/2
Enlarged cisterna magna 100.0% 2/2
Arachnoid cyst 50.0% 1/2
Elevated brain lactate level by MRS 50.0% 1/2
Enlarged sylvian cistern 50.0% 1/2
Hydrocephalus 50.0% 1/2
Gastrointestinal    
Gastrointestinal abnormalities 100.0% 2/2
Feeding difficulties 100.0% 2/2
Decreased liver function 50.0% 1/2
Inguinal hernia 50.0% 1/2
Umbilical hernia 50.0% 1/2
Endocrine / Immunological / Metabolic    
Abnormality of the metabolic system 100.0% 1/1
Hyperammonemia 100.0% 1/1
Lactic acidosis 100.0% 1/1