MEF2C

Graph and Chart

Patient Overview : 7

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 14.3% 1/7
Female 85.7% 6/7
Indifferent 0% 0/7
Unknown 0% 0/7
General    
Birth Length abnormalities 0% 0/7
Birth Weight abnormalities 0% 0/7
Birth Head circumference abnormalities 0% 0/7
Current Height abnormalities 0% 0/7
Current Weight abnormalities 14.3% 1/7
< P3 : Decreased body weight 14.3% 1/7
Current Head circumference abnormalities 0% 0/7
Neurology    
Neurological abnormalities 100.0% 7/7
Febrile seizures 57.1% 4/7
Central hypotonia 42.9% 3/7
Generalized seizures 28.6% 2/7
Absence seizures 14.3% 1/7
Gait disturbance 14.3% 1/7
Generalized myoclonic seizures 14.3% 1/7
Generalized tonic-clonic seizures 14.3% 1/7
Seizures 14.3% 1/7
Severe global developmental delay 14.3% 1/7
Spasticity 14.3% 1/7
Behavioral problems 100.0% 7/7
Stereotypic behavior 85.7% 6/7
Autistic behavior 42.9% 3/7
Bruxism 28.6% 2/7
Recurrent hand flapping 28.6% 2/7
Stereotypical hand wringing 28.6% 2/7
Abnormal eating behavior 14.3% 1/7
Obsessive-compulsive trait 14.3% 1/7
Stereotypical body rocking 14.3% 1/7
Brain abnormality 83.3% 5/6
Abnormality of the corpus callosum 33.3% 2/6
Ventriculomegaly 33.3% 2/6
Abnormal length of corpus callosum 16.7% 1/6
Aplasia/Hypoplasia of the corpus callosum 16.7% 1/6
Frontal cortical atrophy 16.7% 1/6
Facial abnormalities    
Abnormality of the eye 28.6% 2/7
Prominent epicanthal folds 28.6% 2/7
Hypertelorism 14.3% 1/7
Abnormality of the nose 85.7% 6/7
Short columella 85.7% 6/7
Depressed nasal bridge 57.1% 4/7
Abnormality of the mouth 100.0% 7/7
Downturned corners of mouth 71.4% 5/7
Deep philtrum 57.1% 4/7
Abnormality of mouth size 42.9% 3/7
Tented upper lip vermilion 42.9% 3/7
Abnormality of the philtrum 14.3% 1/7
Visual and hearing impairments    
Abnormal hearing 14.3% 1/7
Blindness 14.3% 1/7
Abnormal vision 66.7% 4/6
Myopia 33.3% 2/6
Blindness 16.7% 1/6
Nystagmus 16.7% 1/6
Poor eye contact 16.7% 1/6
Heart    
Abnormality of the heart 16.7% 1/6
Patent foramen ovale 16.7% 1/6
Patent ductus arteriosus 16.7% 1/6
Gastrointestinal    
Gastrointestinal abnormalities 85.7% 6/7
Feeding difficulties 57.1% 4/7
Constipation 42.9% 3/7
Gastroesophageal reflux 42.9% 3/7
Urogenital    
Abnormality of the urogenital system 28.6% 2/7
Partially duplicated kidney 14.3% 1/7
Vesicoureteral reflux 14.3% 1/7
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 28.6% 2/7
Capillary hemangiomas 28.6% 2/7
Endocrine / Immunological / Metabolic    
Abnormality of the immune system 50.0% 3/6
Recurrent infections 33.3% 2/6
Recurrent bronchopulmonary infections 16.7% 1/6