CIC

Graph and Chart

Patient Overview : 28

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 64.3% 18/28
Female 35.7% 10/28
Indifferent 0% 0/28
Unknown 0% 0/28
General    
Birth Length abnormalities 3.6% 1/28
> P98 : Birth length greater than 97th percentile 3.6% 1/28
Birth Weight abnormalities 3.6% 1/28
> P98 : Large for gestational age 3.6% 1/28
Birth Head circumference abnormalities 3.6% 1/28
> P98 : Macrocephaly at birth 3.6% 1/28
Current Height abnormalities 25.0% 7/28
> P98 : Tall stature 10.7% 3/28
< P3 : Short stature 14.3% 4/28
Current Weight abnormalities 14.3% 4/28
> P98 : Increased body weight 3.6% 1/28
< P3 : Decreased body weight 10.7% 3/28
Current Head circumference abnormalities 7.1% 2/28
> P98 : Macrocephaly 3.6% 1/28
< P3 : Microcephaly 3.6% 1/28
Neurology    
Neurological abnormalities 71.4% 20/28
Seizures 21.4% 6/28
EEG abnormality 14.3% 4/28
Cerebral palsy 10.7% 3/28
EEG with generalized epileptiform discharges 10.7% 3/28
Generalized hypotonia 10.7% 3/28
Global developmental delay 10.7% 3/28
Muscular hypotonia of the trunk 10.7% 3/28
Absence seizures 7.1% 2/28
Chorea 7.1% 2/28
Febrile seizures 7.1% 2/28
Appendicular hypotonia 3.6% 1/28
Ataxia 3.6% 1/28
Developmental regression 3.6% 1/28
Diminished movement 3.6% 1/28
Dystonia 3.6% 1/28
EEG with spike-wave complexes 3.6% 1/28
EEG with generalized slow activity 3.6% 1/28
Epileptic encephalopathy 3.6% 1/28
Focal tonic seizures 3.6% 1/28
Focal seizures with impairment of consciousness or awareness 3.6% 1/28
Gait disturbance 3.6% 1/28
Generalized tonic-clonic seizures 3.6% 1/28
Generalized myoclonic seizures 3.6% 1/28
Hyperreflexia 3.6% 1/28
Hyperkinesis 3.6% 1/28
Lower limb muscle weakness 3.6% 1/28
Lower limb hypertonia 3.6% 1/28
Memory impairment 3.6% 1/28
Multifocal epileptiform discharges 3.6% 1/28
Myoclonus 3.6% 1/28
Poor motor coordination 3.6% 1/28
Postural instability 3.6% 1/28
Behavioral problems 78.6% 22/28
Autism 32.1% 9/28
Attention deficit hyperactivity disorder 28.6% 8/28
Sleep disturbance 17.9% 5/28
Autistic behavior 10.7% 3/28
Impaired social interactions 10.7% 3/28
Stereotypic behavior 10.7% 3/28
Aggressive behavior 7.1% 2/28
Behavioral abnormality 7.1% 2/28
Bipolar affective disorder 7.1% 2/28
Hyperactivity 7.1% 2/28
Psychosis 7.1% 2/28
Abnormal emotion/affect behavior 3.6% 1/28
Abnormal social behavior 3.6% 1/28
Anxiety 3.6% 1/28
Echolalia 3.6% 1/28
Obsessive-compulsive behavior 3.6% 1/28
Oppositional defiant disorder 3.6% 1/28
Perseveration 3.6% 1/28
Poor eye contact 3.6% 1/28
Recurrent hand flapping 3.6% 1/28
Restlessness 3.6% 1/28
Self-injurious behavior 3.6% 1/28
Short attention span 3.6% 1/28
Shyness 3.6% 1/28
Brain abnormality 36.4% 8/22
Abnormality of the cerebral white matter 9.1% 2/22
Multifocal cerebral white matter abnormalities 9.1% 2/22
Abnormality of the corpus callosum 4.5% 1/22
Abnormality of brain morphology 4.5% 1/22
Cerebral calcification 4.5% 1/22
Cerebellar hypoplasia 4.5% 1/22
Delayed myelination 4.5% 1/22
EEG with spike-wave complexes (<2.5 Hz) 4.5% 1/22
EEG with generalized polyspikes 4.5% 1/22
Focal white matter lesions 4.5% 1/22
Grade I preterm intraventricular hemorrhage 4.5% 1/22
Hypoplasia of the pons 4.5% 1/22
Leukoencephalopathy 4.5% 1/22
Periventricular leukomalacia 4.5% 1/22
Ventriculomegaly 4.5% 1/22
Facial abnormalities    
Abnormality of the ear 23.1% 6/26
Protruding ear 11.5% 3/26
Attached earlobe 3.8% 1/26
Low-set ears 3.8% 1/26
Microtia 3.8% 1/26
Preauricular pit 3.8% 1/26
Thickened helices 3.8% 1/26
Abnormality of the eye 14.8% 4/27
Deeply set eye 3.7% 1/27
Horizontal eyebrow 3.7% 1/27
Hypotelorism 3.7% 1/27
Long eyelashes 3.7% 1/27
Ptosis 3.7% 1/27
Strabismus 3.7% 1/27
Synophrys 3.7% 1/27
Abnormality of the nose 19.2% 5/26
Broad nasal tip 15.4% 4/26
Low hanging columella 3.8% 1/26
Prominent nasal bridge 3.8% 1/26
Underdeveloped nasal alae 3.8% 1/26
Abnormality of the mouth 19.2% 5/26
Thin upper lip vermilion 7.7% 2/26
Everted upper lip vermilion 3.8% 1/26
Narrow palate 3.8% 1/26
Short philtrum 3.8% 1/26
Thick lower lip vermilion 3.8% 1/26
Unerupted tooth 3.8% 1/26
Visual and hearing impairments    
Abnormal hearing 3.7% 1/27
Hearing abnormality 3.7% 1/27
Abnormal vision 29.6% 8/27
Abnormality of refraction 7.4% 2/27
Cortical visual impairment 3.7% 1/27
Exotropia 3.7% 1/27
Hypermetropia 3.7% 1/27
Myopia 3.7% 1/27
Photophobia 3.7% 1/27
Strabismus 3.7% 1/27
Visual impairment 3.7% 1/27
Heart    
Abnormality of the heart 18.5% 5/27
Arterial thrombosis 3.7% 1/27
Atria septal defect 3.7% 1/27
Bicuspid aortic valve 3.7% 1/27
Heart murmur 3.7% 1/27
Patent foramen ovale 3.7% 1/27
Pulmonic stenosis 3.7% 1/27
Pulmonary    
Abnormality of the lungs 7.4% 2/27
Asthma 3.7% 1/27
Chronic lung disease 3.7% 1/27
Respiratory distress 3.7% 1/27
Gastrointestinal    
Gastrointestinal abnormalities 35.7% 10/28
Feeding difficulties 10.7% 3/28
Constipation 7.1% 2/28
Gastroesophageal reflux 7.1% 2/28
Gastrostomy tube feeding in infancy 7.1% 2/28
Poor suck 7.1% 2/28
Diarrhea 3.6% 1/28
Diastasis recti 3.6% 1/28
Dysphagia 3.6% 1/28
Enterocolitis 3.6% 1/28
Failure to thrive 3.6% 1/28
Nasogastric tube feeding in infancy 3.6% 1/28
Vomiting 3.6% 1/28
Urogenital    
Abnormality of the urogenital system 7.4% 2/27
Acute kidney injury 3.7% 1/27
Hypospadias 3.7% 1/27
Vesicoureteral reflux 3.7% 1/27
Skeleton    
Skeletal abnormalities 33.3% 9/27
Joint laxity 14.8% 4/27
Pes planus 7.4% 2/27
Scoliosis 7.4% 2/27
Abnormality of toe 3.7% 1/27
Accelerated skeletal maturation 3.7% 1/27
Achilles tendon contracture 3.7% 1/27
Arachnodactyly 3.7% 1/27
Cubitus valgus 3.7% 1/27
Pes cavus 3.7% 1/27
Plagiocephaly 3.7% 1/27
Slender build 3.7% 1/27
Small hand 3.7% 1/27
Talipes valgus 3.7% 1/27
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 25.9% 7/27
Telangiectasia 7.4% 2/27
Abnormality of dental color 3.7% 1/27
Abnormality of the skin of the palm 3.7% 1/27
Alopecia 3.7% 1/27
Cutis marmorata 3.7% 1/27
Hemangioma 3.7% 1/27
Hypoplastic fifth toenail 3.7% 1/27
Short nail 3.7% 1/27
Single transverse palmar crease 3.7% 1/27
Skin rash 3.7% 1/27
Sparse scalp hair 3.7% 1/27
Endocrine / Immunological / Metabolic    
Abnormality of the endocrine system 3.7% 1/27
Premature pubarche 3.7% 1/27
Abnormality of the metabolic system 22.2% 6/27
Abnormality of metabolism/homeostasis 7.4% 2/27
Neonatal hypoglycemia 7.4% 2/27
Abnormality of folate metabolism 3.7% 1/27
Jaundice 3.7% 1/27
Prolonged neonatal jaundice 3.7% 1/27
Vitamin D deficiency 3.7% 1/27
Abnormality of the immune system 11.1% 3/27
Autoimmune antibody positivity 3.7% 1/27
Recurrent otitis media 3.7% 1/27
Recurrent pneumonia 3.7% 1/27
Severe viral infections 3.7% 1/27
Neoplasia    
Neoplasia 7.4% 2/27
Pre-B-cell acute lymphoblastic leukemia 7.4% 2/27