EHMT1

Graph and Chart

Patient Overview : 19

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 31.6% 6/19
Female 68.4% 13/19
Neurology    
Neurological abnormalities 100.0% 19/19
Muscular hypotonia 100.0% 19/19
Inability to walk 5.3% 1/19
Seizures 26.3% 5/19
Behavioral problems 78.9% 15/19
Behavioral abnormality 78.9% 15/19
Apathy 5.3% 1/19
Sleep disturbance 5.3% 1/19
Brain abnormality 56.3% 9/16
Abnormality of brain morphology 50.0% 8/16
Abnormality of the cerebral white matter 6.3% 1/16
Facial abnormalities    
Abnormality of the eye 100.0% 19/19
Synophrys 100.0% 19/19
Abnormality of the eyebrow 100.0% 19/19
Coloboma 5.3% 1/19
Strabismus 5.3% 1/19
Abnormality of the mouth 100.0% 19/19
Everted lower lip vermilion 100.0% 19/19
Exaggerated cupid's bow 100.0% 19/19
Protruding tongue 100.0% 19/19
Visual and hearing impairments    
Abnormal hearing 36.8% 7/19
Hearing impairment 36.8% 7/19
Heart    
Abnormality of the heart 31.6% 6/19
Abnormal heart morphology 26.3% 5/19
Atrial flutter 5.3% 1/19
Left ventricular hypertrophy 5.3% 1/19
Gastrointestinal    
Gastrointestinal abnormalities 42.1% 8/19
Gastroesophageal reflux 36.8% 7/19
Anal atresia 5.3% 1/19
Urogenital    
Abnormality of the urogenital system 21.1% 4/19
Abnormal genital system morphology 10.5% 2/19
Vesicoureteral reflux 5.3% 1/19
Hydronephrosis 5.3% 1/19
Skeleton    
Skeletal abnormalities 26.3% 5/19
Joint hypermobility 5.3% 1/19
Abnormality of the skeletal system 21.1% 4/19
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 5.3% 1/19
Abnormality of the teeth 5.3% 1/19
Endocrine / Immunological / Metabolic    
Abnormality of the endocrine system 10.5% 2/19
Precocious puberty 10.5% 2/19
Abnormality of the immune system 10.5% 2/19
Recurrent infections 10.5% 2/19