Patient Overview : 30

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 0% 0/30
Female 100.0% 30/30
Neurology    
Neurological abnormalities 100.0% 27/27
Generalized hypotonia 81.5% 22/27
Abnormality of movement 59.3% 16/27
Seizures 25.9% 7/27
Global developmental delay 3.7% 1/27
Behavioral problems 55.2% 16/29
Behavioral abnormality 55.2% 16/29
Brain abnormality 100.0% 16/16
Ventriculomegaly 62.5% 10/16
Hypoplasia of the corpus callosum 56.3% 9/16
Cortical dysplasia 25.0% 4/16
Facial abnormalities    
Abnormality of the eye 100.0% 5/5
Hypertelorism 100.0% 5/5
Abnormality of the nose 100.0% 14/14
Abnormality of the nasal alae 71.4% 10/14
Abnormality of the external nose 28.6% 4/14
Abnormality of the mouth 100.0% 2/2
Oral cleft 100.0% 2/2
Visual and hearing impairments    
Abnormal hearing 10.0% 3/30
Hearing impairment 10.0% 3/30
Abnormal vision 33.3% 10/30
Abnormality of vision 33.3% 10/30
Skeleton    
Skeletal abnormalities 100.0% 14/14
Joint laxity 85.7% 12/14
Scoliosis 21.4% 3/14
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 33.3% 10/30
Abnormality of the skin 33.3% 10/30
Endocrine / Immunological / Metabolic    
Abnormality of the endocrine system 100.0% 4/4
Precocious puberty 100.0% 4/4