MN1

Graph and Chart

Patient Overview : 4

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 50.0% 2/4
Female 50.0% 2/4
Neurology    
Neurological abnormalities 66.7% 2/3
Generalized neonatal hypotonia 33.3% 1/3
Intellectual disability 33.3% 1/3
Myoclonic spasms 33.3% 1/3
Neonatal hypotonia 33.3% 1/3
Severe expressive language delay 33.3% 1/3
Brain abnormality 50.0% 2/4
Perisylvian polymicrogyria 50.0% 2/4
Hypertelorism 25.0% 1/4
Ventriculomegaly 25.0% 1/4
Facial abnormalities    
Abnormality of the ear 100.0% 4/4
Low-set ears 50.0% 2/4
Abnormality of stem of antihelix 25.0% 1/4
Asymmetry of the ears 25.0% 1/4
Overfolding of the superior helices 25.0% 1/4
Short ear 25.0% 1/4
Abnormality of the eye 100.0% 4/4
Congenital ptosis 50.0% 2/4
Downslanted palpebral fissures 50.0% 2/4
Hypermetropia 25.0% 1/4
Abnormality of the nose 25.0% 1/4
Flared nostrils 25.0% 1/4
Abnormality of the mouth 25.0% 1/4
Gingival overgrowth 25.0% 1/4
Mandibular prognathia 25.0% 1/4
Misalignment of teeth 25.0% 1/4
Visual and hearing impairments    
Abnormal hearing 50.0% 2/4
Cholesteatoma 25.0% 1/4
Conductive hearing impairment 25.0% 1/4
Infantile sensorineural hearing impairment 25.0% 1/4
Unilateral deafness 25.0% 1/4
Abnormal vision 66.7% 2/3
Amblyopia 33.3% 1/3
Hypermetropia 33.3% 1/3
Heart    
Abnormality of the heart 25.0% 1/4
Subaortic stenosis 25.0% 1/4
Gastrointestinal    
Gastrointestinal abnormalities 50.0% 2/4
Constipation 25.0% 1/4
Feeding difficulties 25.0% 1/4
Nasogastric tube feeding in infancy 25.0% 1/4
Urogenital    
Abnormality of the urogenital system 33.3% 1/3
Cryptorchidism 33.3% 1/3
Epididymal cyst 33.3% 1/3
Hydrocele testis 33.3% 1/3
Skeleton    
Skeletal abnormalities 66.7% 2/3
Narrow greater sacrosciatic notches 33.3% 1/3
Pectus excavatum of inferior sternum 33.3% 1/3
Posterior scalloping of vertebral bodies 33.3% 1/3