RORA

Graph and Chart

Patient Overview : 16

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 50.0% 8/16
Female 50.0% 8/16
Indifferent 0% 0/16
Unknown 0% 0/16
General    
Birth Length abnormalities 6.3% 1/16
> P98 : Birth length greater than 97th percentile 6.3% 1/16
Birth Weight abnormalities 0% 0/16
Birth Head circumference abnormalities 6.3% 1/16
> P98 : Macrocephaly at birth 6.3% 1/16
Current Height abnormalities 6.3% 1/16
> P98 : Tall stature 6.3% 1/16
Current Weight abnormalities 0% 0/16
Current Head circumference abnormalities 6.3% 1/16
> P98 : Macrocephaly 6.3% 1/16
Neurology    
Neurological abnormalities 86.7% 13/15
Tremor 53.3% 8/15
Muscular hypotonia 46.7% 7/15
Ataxia 26.7% 4/15
Seizures 26.7% 4/15
Absence seizures 20.0% 3/15
Poor coordination 13.3% 2/15
Developmental regression 6.7% 1/15
Febrile seizures 6.7% 1/15
Focal seizures 6.7% 1/15
Generalized tonic-clonic seizures 6.7% 1/15
Generalized myoclonic seizures 6.7% 1/15
Myoclonus 6.7% 1/15
Nystagmus 6.7% 1/15
Oculomotor apraxia 6.7% 1/15
Spina bifida occulta 6.7% 1/15
Toe walking 6.7% 1/15
Upper motor neuron dysfunction 6.7% 1/15
Behavioral problems 50.0% 8/16
Autism 31.3% 5/16
Behavioral abnormality 6.3% 1/16
Borderline personality disorder 6.3% 1/16
Hyperactivity 6.3% 1/16
Brain abnormality 55.6% 5/9
Cerebellar hypoplasia 22.2% 2/9
Abnormality of the cerebral ventricles 11.1% 1/9
Cerebellar vermis hypoplasia 11.1% 1/9
Cerebellar vermis atrophy 11.1% 1/9
Hypoplasia of the corpus callosum 11.1% 1/9
Pontocerebellar atrophy 11.1% 1/9
Facial abnormalities    
Abnormality of the eye 50.0% 7/14
Strabismus 35.7% 5/14
Esotropia 14.3% 2/14
Visual and hearing impairments    
Abnormal hearing 6.3% 1/16
Visual impairment 6.3% 1/16
Abnormal vision 21.4% 3/14
Hypermetropia 14.3% 2/14
Amblyopia 7.1% 1/14
Gastrointestinal    
Gastrointestinal abnormalities 6.3% 1/16
Constipation 6.3% 1/16
Episodic vomiting 6.3% 1/16
Urogenital    
Abnormality of the urogenital system 12.5% 2/16
Cryptorchidism 6.3% 1/16
Hydronephrosis 6.3% 1/16
Renal cyst 6.3% 1/16
Skeleton    
Skeletal abnormalities 6.3% 1/16
Knee flexion contracture 6.3% 1/16
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 6.3% 1/16
Atopic dermatitis 6.3% 1/16
Endocrine / Immunological / Metabolic    
Abnormality of the endocrine system 6.3% 1/16
Hypoglycemia 6.3% 1/16
Abnormality of the metabolic system 6.3% 1/16
Hypercholesterolemia 6.3% 1/16