SMG9

Graph and Chart

Patient Overview : 3

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 66.7% 2/3
Female 33.3% 1/3
Indifferent 0% 0/3
Unknown 0% 0/3
General    
Birth Length abnormalities 0% 0/0
Birth Weight abnormalities 0% 0/0
Birth Head circumference abnormalities 0% 0/0
Current Height abnormalities 0% 0/0
Current Weight abnormalities 0% 0/0
Current Head circumference abnormalities 0% 0/0
Neurology    
Neurological abnormalities 100.0% 3/3
Dandy-Walker malformation 66.7% 2/3
Abnormal myelination 33.3% 1/3
Agenesis of corpus callosum 33.3% 1/3
Brain atrophy 33.3% 1/3
Brisk reflexes 33.3% 1/3
Cerebellar vermis hypoplasia 33.3% 1/3
Limb hypertonia 33.3% 1/3
Muscular hypotonia of the trunk 33.3% 1/3
Brain abnormality 66.7% 2/3
Dandy-Walker malformation 66.7% 2/3
Abnormal myelination 33.3% 1/3
Agenesis of corpus callosum 33.3% 1/3
Brain atrophy 33.3% 1/3
Cerebellar vermis hypoplasia 33.3% 1/3
Facial abnormalities    
Abnormality of the ear 100.0% 2/2
Attached earlobe 50.0% 1/2
Low-set ears 50.0% 1/2
Posteriorly rotated ears 50.0% 1/2
Abnormality of the eye 100.0% 2/2
Hypertelorism 50.0% 1/2
Microphthalmia 50.0% 1/2
Abnormality of the nose 100.0% 2/2
Anteverted nares 50.0% 1/2
Depressed nasal bridge 50.0% 1/2
Wide nasal bridge 50.0% 1/2
Abnormality of the mouth 100.0% 2/2
Everted lower lip vermilion 50.0% 1/2
High palate 50.0% 1/2
Unilateral cleft lip 50.0% 1/2
Visual and hearing impairments    
Abnormal vision 100.0% 1/1
Blurred vision 100.0% 1/1
Heart    
Abnormality of the heart 100.0% 3/3
Ventricular septal defect 66.7% 2/3
Hypoplastic tricuspid valve 33.3% 1/3
Interrupted aortic arch 33.3% 1/3
Muscular ventricular septal defect 33.3% 1/3
Skeleton    
Skeletal abnormalities 100.0% 2/2
Camptodactyly 50.0% 1/2
Hand clenching 50.0% 1/2
2-3 toe syndactyly 50.0% 1/2