IQSEC2

Graph and Chart

Patient Overview : 20

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 50.0% 10/20
Female 50.0% 10/20
Neurology    
Neurological abnormalities 100.0% 18/18
Intellectual disability, profound 5.6% 1/18
Postnatal microcephaly 5.6% 1/18
Autism 5.6% 1/18
Focal seizures 16.7% 3/18
EEG with generalized epileptiform discharges 5.6% 1/18
Seizures 11.1% 2/18
Epileptiform EEG discharges 5.6% 1/18
Absence seizures with special features 5.6% 1/18
Ataxia 16.7% 3/18
Drooling 11.1% 2/18
Stereotypical hand wringing 5.6% 1/18
Upper limb spasticity 5.6% 1/18
Generalized tonic-clonic seizures 22.2% 4/18
Generalized hypotonia 22.2% 4/18
Strabismus 5.6% 1/18
Generalized neonatal hypotonia 5.6% 1/18
Hyperkinesis 5.6% 1/18
Generalized myoclonic seizures 5.6% 1/18
Infantile muscular hypotonia 5.6% 1/18
Neonatal hypotonia 5.6% 1/18
Photosensitive tonic-clonic seizures 5.6% 1/18
Gait ataxia 22.2% 4/18
Myoclonus 11.1% 2/18
Absence seizures 16.7% 3/18
Status epilepticus 5.6% 1/18
Broad-based gait 5.6% 1/18
Infantile spasms 5.6% 1/18
Paroxysmal dystonia 5.6% 1/18
Toe walking 5.6% 1/18
EEG abnormality 5.6% 1/18
Behavioral problems 88.9% 16/18
Stereotypic behavior 55.6% 10/18
Autism 22.2% 4/18
Abnormal aggressive, impulsive or violent behavior 16.7% 3/18
Stereotypical hand wringing 22.2% 4/18
Inappropriate laughter 11.1% 2/18
Delayed social development 5.6% 1/18
Self-injurious behavior 11.1% 2/18
Inappropriate crying 11.1% 2/18
Autistic behavior 11.1% 2/18
Poor eye contact 11.1% 2/18
Restrictive behavior 5.6% 1/18
Behavioral abnormality 5.6% 1/18
Drooling 16.7% 3/18
Sleep disturbance 5.6% 1/18
Attention deficit hyperactivity disorder 5.6% 1/18
Anxiety 5.6% 1/18
Unsteady gait 5.6% 1/18
Bruxism 11.1% 2/18
Overfriendliness 11.1% 2/18
Self-biting 5.6% 1/18
Happy demeanor 5.6% 1/18
Paroxysmal bursts of laughter 5.6% 1/18
Recurrent hand flapping 5.6% 1/18
Brain abnormality 35.7% 5/14
Cerebral hypomyelination 7.1% 1/14
Brain atrophy 7.1% 1/14
Cerebral atrophy 14.3% 2/14
Abnormality of the periventricular white matter 7.1% 1/14
Hypoplasia of the frontal lobes 7.1% 1/14
Intracranial cystic lesion 7.1% 1/14
Facial abnormalities    
Abnormality of the ear 5.0% 1/20
Thickened helices 5.0% 1/20
Abnormality of the eye 40.0% 8/20
Abnormality of the eyelid 5.0% 1/20
Strabismus 25.0% 5/20
Deeply set eye 10.0% 2/20
Downslanted palpebral fissures 5.0% 1/20
Upslanted palpebral fissure 5.0% 1/20
Abnormality of the mouth 30.0% 6/20
Long philtrum 5.0% 1/20
Short philtrum 10.0% 2/20
Thick vermilion border 20.0% 4/20
Wide mouth 15.0% 3/20
Tented upper lip vermilion 5.0% 1/20
Visual and hearing impairments    
Abnormal vision 26.3% 5/19
Cortical visual impairment 5.3% 1/19
Hypermetropia 15.8% 3/19
Optic atrophy 5.3% 1/19
Heart    
Abnormality of the heart 10.0% 2/20
Patent ductus arteriosus 5.0% 1/20
Pulmonary artery stenosis 5.0% 1/20
Gastrointestinal    
Gastrointestinal abnormalities 50.0% 10/20
Feeding difficulties 30.0% 6/20
Constipation 30.0% 6/20
Gastroesophageal reflux 15.0% 3/20
Abnormal eating behavior 5.0% 1/20
Villous atrophy 5.0% 1/20
Urogenital    
Abnormality of the urogenital system 5.0% 1/20
Urethral valve 5.0% 1/20
Skeleton    
Skeletal abnormalities 50.0% 10/20
Scoliosis 15.0% 3/20
Camptodactyly 5.0% 1/20
Thoracic kyphosis 5.0% 1/20
Brachycephaly 15.0% 3/20
Clinodactyly 5.0% 1/20
Thoracic scoliosis 5.0% 1/20
11 pairs of ribs 5.0% 1/20
Long fingers 5.0% 1/20
Slender finger 5.0% 1/20
Narrow foot 10.0% 2/20
Slender toe 5.0% 1/20
Small hand 5.0% 1/20
2-3 toe syndactyly 5.0% 1/20
Pes planus 10.0% 2/20
Broad thumb 5.0% 1/20
Anterior plagiocephaly 5.0% 1/20
Prominent metopic ridge 5.0% 1/20
Tapered finger 5.0% 1/20
Kyphoscoliosis 5.0% 1/20
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 35.0% 7/20
Eczema 20.0% 4/20
Sparse hair 5.0% 1/20
Pallor 5.0% 1/20
Mottled pigmentation 5.0% 1/20
Horizontal eyebrow 5.0% 1/20
Abnormality of the eyebrow 10.0% 2/20
Synophrys 5.0% 1/20
Coarse facial features 5.0% 1/20
Coarse hair 5.0% 1/20
Low anterior hairline 5.0% 1/20
Low posterior hairline 5.0% 1/20
Medial flaring of the eyebrow 5.0% 1/20
Abnormality of the toenails 5.0% 1/20
Endocrine / Immunological / Metabolic    
Abnormality of the metabolic system 5.0% 1/20
Neonatal hypoglycemia 5.0% 1/20
Hypothermia 5.0% 1/20