SON

Graph and Chart

Patient Overview : 53

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 50.9% 27/53
Female 49.1% 26/53
Neurology    
Neurological abnormalities 90.2% 46/51
Generalized tonic-clonic seizures 5.9% 3/51
Generalized hypotonia 47.1% 24/51
Febrile seizures 7.8% 4/51
Severe neonatal hypotonia in males 2.0% 1/51
Global developmental delay 15.7% 8/51
Severe muscular hypotonia 3.9% 2/51
Infantile muscular hypotonia 2.0% 1/51
Status epilepticus 3.9% 2/51
Complex febrile seizures 3.9% 2/51
Focal seizures with impairment of consciousness or awareness 7.8% 4/51
Spastic tetraplegia 2.0% 1/51
Focal seizures 2.0% 1/51
Hemiparesis 2.0% 1/51
Absence seizures 5.9% 3/51
Seizures 19.6% 10/51
Neurodevelopmental delay 3.9% 2/51
Dystonia 2.0% 1/51
Developmental regression 7.8% 4/51
Severe global developmental delay 3.9% 2/51
Generalized neonatal hypotonia 3.9% 2/51
EEG with focal slow activity 2.0% 1/51
EEG with occipital slowing 2.0% 1/51
Unsteady gait 3.9% 2/51
Decreased patellar reflex 2.0% 1/51
Nystagmus 2.0% 1/51
Spasticity 2.0% 1/51
EEG with intermittent slow activity 2.0% 1/51
EEG abnormality 11.8% 6/51
EEG with abnormally slow frequencies 3.9% 2/51
Shuffling gait 2.0% 1/51
Central hypotonia 2.0% 1/51
Muscular hypotonia of the trunk 2.0% 1/51
Hypertonia 2.0% 1/51
Impaired pain sensation 2.0% 1/51
Neonatal hypotonia 5.9% 3/51
Spastic diplegia 2.0% 1/51
Peripheral demyelination 2.0% 1/51
Polyneuropathy 2.0% 1/51
Abnormality of coordination 2.0% 1/51
Gait disturbance 3.9% 2/51
Abnormality of the nervous system 2.0% 1/51
EEG with focal sharp waves 2.0% 1/51
EEG with central focal spikes 2.0% 1/51
Muscular hypotonia 2.0% 1/51
Toe walking 3.9% 2/51
Postural instability 2.0% 1/51
Difficulty standing 2.0% 1/51
EMG abnormality 2.0% 1/51
Behavioral problems 56.3% 27/48
Autistic behavior 6.3% 3/48
Stereotypic behavior 4.2% 2/48
Hyperacusis 2.1% 1/48
Sleep disturbance 18.8% 9/48
Autism 10.4% 5/48
Aggressive behavior 4.2% 2/48
Self-injurious behavior 6.3% 3/48
Auditory hallucinations 2.1% 1/48
Impaired social interactions 2.1% 1/48
Repetitive compulsive behavior 4.2% 2/48
Behavioral abnormality 14.6% 7/48
Low frustration tolerance 2.1% 1/48
Restlessness 2.1% 1/48
Insomnia 6.3% 3/48
Short attention span 6.3% 3/48
Hyperactivity 4.2% 2/48
Anxiety 2.1% 1/48
Recurrent hand flapping 2.1% 1/48
Abnormal aggressive, impulsive or violent behavior 2.1% 1/48
Poor eye contact 2.1% 1/48
Brain abnormality 82.2% 37/45
Cortical dysplasia 15.6% 7/45
Dilation of lateral ventricles 6.7% 3/45
Cavum septum pellucidum 6.7% 3/45
Cerebellar hypoplasia 4.4% 2/45
Enlarged cisterna magna 2.2% 1/45
Abnormality of the fourth ventricle 4.4% 2/45
Hypoplasia of the corpus callosum 15.6% 7/45
Cortical gyral simplification 2.2% 1/45
Perisylvian polymicrogyria 6.7% 3/45
Polymicrogyria 6.7% 3/45
Arnold-Chiari malformation 2.2% 1/45
Hydrocephalus 4.4% 2/45
Abnormality of the cerebral white matter 11.1% 5/45
Morphological abnormality of the central nervous system 2.2% 1/45
Periventricular gray matter heterotopia 4.4% 2/45
Abnormality of the periventricular white matter 2.2% 1/45
Noncommunicating hydrocephalus 2.2% 1/45
Ventriculomegaly 42.2% 19/45
Abnormality of lateral ventricle 4.4% 2/45
Abnormality of the corpus callosum 22.2% 10/45
Abnormality of the cerebellum 8.9% 4/45
Small posterior fossa 2.2% 1/45
Abnormality of the cerebral cortex 2.2% 1/45
Heterotopia 4.4% 2/45
Widened subarachnoid space 8.9% 4/45
Progressive ventriculomegaly 2.2% 1/45
Arachnoid cyst 4.4% 2/45
Cerebral atrophy 2.2% 1/45
Gliosis 6.7% 3/45
Extra-axial cerebrospinal fluid accumulation 6.7% 3/45
Dysplastic corpus callosum 2.2% 1/45
Delayed CNS myelination 2.2% 1/45
Abnormality of the third ventricle 2.2% 1/45
Transient ischemic attack 2.2% 1/45
Multifocal cerebral white matter abnormalities 2.2% 1/45
Abnormality of the cerebrum 2.2% 1/45
Ischemic stroke 2.2% 1/45
Limbic malformations 2.2% 1/45
Communicating hydrocephalus 2.2% 1/45
Optic nerve hypoplasia 2.2% 1/45
Asymmetric ventricles 2.2% 1/45
Enlarged fetal cisterna magna 2.2% 1/45
Periventricular leukomalacia 2.2% 1/45
Brain atrophy 2.2% 1/45
Facial abnormalities    
Abnormality of the ear 69.8% 30/43
Low-set ears 48.8% 21/43
Protruding ear 4.7% 2/43
Macrotia 4.7% 2/43
Posteriorly rotated ears 11.6% 5/43
Abnormality of the pinna 4.7% 2/43
Microtia 2.3% 1/43
Low-set, posteriorly rotated ears 2.3% 1/43
Hypoplastic helices 2.3% 1/43
Abnormality of the ear 2.3% 1/43
Abnormality of earlobe 2.3% 1/43
Abnormality of the eye 95.7% 45/47
Downslanted palpebral fissures 48.9% 23/47
Deeply set eye 25.5% 12/47
Strabismus 44.7% 21/47
Long palpebral fissure 4.3% 2/47
Cleft eyelid 2.1% 1/47
Epicanthus 19.1% 9/47
Exotropia 4.3% 2/47
Horizontal eyebrow 2.1% 1/47
Sparse lateral eyebrow 2.1% 1/47
Prominent epicanthal folds 4.3% 2/47
Synophrys 2.1% 1/47
Unilateral ptosis 2.1% 1/47
Aplasia/Hypoplasia affecting the eye 2.1% 1/47
Proptosis 2.1% 1/47
Esotropia 8.5% 4/47
Abnormality of eye movement 2.1% 1/47
Hypertelorism 10.6% 5/47
Upslanted palpebral fissure 2.1% 1/47
Abnormality of the eye 2.1% 1/47
Abnormality of the nose 71.4% 30/42
Abnormality of the nasal bridge 28.6% 12/42
Abnormality of the nares 2.4% 1/42
Wide nasal bridge 14.3% 6/42
Flared nostrils 2.4% 1/42
Abnormality of the nasolabial region 2.4% 1/42
Depressed nasal bridge 11.9% 5/42
Short nose 9.5% 4/42
Bulbous nose 7.1% 3/42
Convex nasal ridge 2.4% 1/42
Low hanging columella 2.4% 1/42
Underdeveloped nasal alae 4.8% 2/42
Abnormality of the nose 2.4% 1/42
Prominent nose 2.4% 1/42
Broad nasal tip 2.4% 1/42
Wide nasal base 2.4% 1/42
Abnormality of the mouth 73.8% 31/42
Cleft palate 4.8% 2/42
Bifid uvula 4.8% 2/42
Short philtrum 42.9% 18/42
Abnormality of the maxilla 2.4% 1/42
Narrow mouth 9.5% 4/42
Thin upper lip vermilion 14.3% 6/42
Downturned corners of mouth 11.9% 5/42
Smooth philtrum 9.5% 4/42
Thin vermilion border 4.8% 2/42
Thin lower lip vermilion 2.4% 1/42
Ankyloglossia 2.4% 1/42
High palate 2.4% 1/42
Thick vermilion border 2.4% 1/42
Everted lower lip vermilion 2.4% 1/42
Thick lower lip vermilion 2.4% 1/42
Long philtrum 2.4% 1/42
Open mouth 2.4% 1/42
Overbite 2.4% 1/42
Visual and hearing impairments    
Abnormal hearing 16.0% 8/50
Mild hearing impairment 4.0% 2/50
Hearing impairment 4.0% 2/50
Bilateral conductive hearing impairment 2.0% 1/50
Bilateral sensorineural hearing impairment 4.0% 2/50
Hearing abnormality 2.0% 1/50
Abnormal vision 42.9% 21/49
Cortical visual impairment 10.2% 5/49
Hypermetropia 18.4% 9/49
Progressive visual loss 2.0% 1/49
Myopia 8.2% 4/49
Abnormality of vision 2.0% 1/49
Reduced visual acuity 2.0% 1/49
Astigmatism 6.1% 3/49
Amblyopia 2.0% 1/49
High-grade hypermetropia 4.1% 2/49
Abnormal eye physiology 2.0% 1/49
Blue sclerae 2.0% 1/49
Optic nerve hypoplasia 2.0% 1/49
Slow saccadic eye movements 2.0% 1/49
Severe photosensitivity 2.0% 1/49
Heart    
Abnormality of the heart 32.7% 16/49
Hypertension 8.2% 4/49
Atria septal defect 6.1% 3/49
Ventricular septal defect 10.2% 5/49
Abnormality of cardiovascular system physiology 2.0% 1/49
Secundum atrial septal defect 4.1% 2/49
Primum atrial septal defect 2.0% 1/49
Dysplastic aortic valve 2.0% 1/49
Arrhythmia 2.0% 1/49
Abnormal heart morphology 2.0% 1/49
Patent ductus arteriosus 2.0% 1/49
Patent foramen ovale 2.0% 1/49
Patent ductus arteriosus after birth at term 2.0% 1/49
Heart murmur 2.0% 1/49
Bicuspid aortic valve 2.0% 1/49
Abnormal branching pattern of the aortic arch 2.0% 1/49
Abnormality of the systemic arterial tree 2.0% 1/49
Hypoplastic left heart 2.0% 1/49
Gastrointestinal    
Gastrointestinal abnormalities 70.8% 34/48
Feeding difficulties in infancy 37.5% 18/48
Hypoplasia of the gallbladder 2.1% 1/48
Constipation 8.3% 4/48
Intestinal malrotation 4.2% 2/48
Duodenal atresia 4.2% 2/48
Dysphagia 10.4% 5/48
Feeding difficulties 27.1% 13/48
Exocrine pancreatic insufficiency 2.1% 1/48
Gastroparesis 4.2% 2/48
Chronic diarrhea 2.1% 1/48
Gastroesophageal reflux 10.4% 5/48
Nasogastric tube feeding in infancy 4.2% 2/48
Abnormal eating behavior 2.1% 1/48
Gastrostomy tube feeding in infancy 10.4% 5/48
Absent gallbladder 2.1% 1/48
Umbilical hernia 2.1% 1/48
Abnormality of the duodenum 2.1% 1/48
Nausea and vomiting 2.1% 1/48
Vomiting 2.1% 1/48
Poor appetite 2.1% 1/48
Poor suck 4.2% 2/48
Gastrointestinal dysmotility 2.1% 1/48
Diarrhea 2.1% 1/48
Oral-pharyngeal dysphagia 2.1% 1/48
Urogenital    
Abnormality of the urogenital system 44.9% 22/49
Horseshoe kidney 12.2% 6/49
Hydronephrosis 2.0% 1/49
Multiple renal cysts 6.1% 3/49
Hypoplasia of the uterus 2.0% 1/49
Hypoplasia of the ovary 2.0% 1/49
Polyuria 2.0% 1/49
Nephrocalcinosis 2.0% 1/49
Inguinal hernia 2.0% 1/49
Cryptorchidism 2.0% 1/49
Enlarged kidneys 2.0% 1/49
Renal dysplasia 2.0% 1/49
Unilateral renal atrophy 2.0% 1/49
Solitary renal cyst 2.0% 1/49
Shawl scrotum 2.0% 1/49
Renal hypoplasia 2.0% 1/49
Hypoplastic labia majora 2.0% 1/49
Renal malrotation 2.0% 1/49
Unilateral renal agenesis 2.0% 1/49
Uric acid urolithiasis independent of gout 2.0% 1/49
Multicystic kidney dysplasia 4.1% 2/49
Unilateral cryptorchidism 2.0% 1/49
Unilateral renal hypoplasia 2.0% 1/49
Bilateral renal hypoplasia 2.0% 1/49
Abnormal renal morphology 2.0% 1/49
Vesicoureteral reflux 2.0% 1/49
Skeleton    
Skeletal abnormalities 82.0% 41/50
Hemivertebrae 4.0% 2/50
Short foot 10.0% 5/50
Short toe 6.0% 3/50
Abnormality of the curvature of the vertebral column 8.0% 4/50
Craniosynostosis 2.0% 1/50
Abnormality of the foot 2.0% 1/50
Clinodactyly of the 5th finger 2.0% 1/50
Short distal phalanx of finger 4.0% 2/50
Cubitus valgus 2.0% 1/50
Delayed skeletal maturation 6.0% 3/50
Hypertrophy of the lower limb 4.0% 2/50
Hypertrophy of the upper limb 2.0% 1/50
Increased arm span 2.0% 1/50
Hypermobility of interphalangeal joints 2.0% 1/50
Hyperextensibility at elbow 4.0% 2/50
Hypoplasia of the maxilla 2.0% 1/50
Abnormality of limbs 4.0% 2/50
Joint hypermobility 26.0% 13/50
Osteoporosis 2.0% 1/50
Sagittal craniosynostosis 6.0% 3/50
Disproportionate short-trunk short stature 2.0% 1/50
Pes planus 20.0% 10/50
Abnormality of the hip joint 2.0% 1/50
Valgus foot deformity 2.0% 1/50
Dolichocephaly 4.0% 2/50
Abnormality of the thorax 2.0% 1/50
Abnormality of the femoral neck 2.0% 1/50
Small hand 2.0% 1/50
Short finger 4.0% 2/50
Flexion contracture 4.0% 2/50
Vertebral fusion 2.0% 1/50
Brachydactyly syndrome 2.0% 1/50
Reduced bone mineral density 2.0% 1/50
Kyphoscoliosis 2.0% 1/50
Pectus excavatum 2.0% 1/50
Long fingers 4.0% 2/50
Genu valgum 4.0% 2/50
Avascular necrosis of the capital femoral epiphysis 2.0% 1/50
Small finger 2.0% 1/50
Tapered finger 2.0% 1/50
Scoliosis 2.0% 1/50
Arachnodactyly 2.0% 1/50
Disproportionate tall stature 2.0% 1/50
Joint laxity 6.0% 3/50
Cervical ribs 4.0% 2/50
Lumbar hyperlordosis 2.0% 1/50
Absent thumb 2.0% 1/50
Aplasia/Hypoplasia of the thumb 2.0% 1/50
2-3 toe syndactyly 2.0% 1/50
Thoracic hemivertebrae 2.0% 1/50
Rib fusion 2.0% 1/50
Distal arthrogryposis 2.0% 1/50
Camptodactyly of finger 2.0% 1/50
Talipes equinovarus 2.0% 1/50
Hip dysplasia 6.0% 3/50
Proximal placement of thumb 2.0% 1/50
Trigonocephaly 2.0% 1/50
Abnormality of the hip bone 2.0% 1/50
Structural foot deformity 2.0% 1/50
Bilateral talipes equinovarus 2.0% 1/50
Aplasia/Hypoplasia of the 4th toe 2.0% 1/50
Generalized osteoporosis 2.0% 1/50
Aseptic necrosis 2.0% 1/50
Unicoronal synostosis 2.0% 1/50
Skeletal muscle atrophy 2.0% 1/50
Plagiocephaly 2.0% 1/50
Clinodactyly 2.0% 1/50
Small posterior fossa 2.0% 1/50
Slender finger 2.0% 1/50
Finger joint hypermobility 4.0% 2/50
Hyperlordosis 2.0% 1/50
Syndactyly 2.0% 1/50
Abnormality of the thumb 2.0% 1/50
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 44.0% 22/50
Multiple cafe-au-lait spots 2.0% 1/50
Inguinal freckling 2.0% 1/50
Dystrophic toenail 2.0% 1/50
Melanonychia 2.0% 1/50
Yellow nails 2.0% 1/50
Nail dystrophy 2.0% 1/50
Hyperkeratosis 2.0% 1/50
Abnormality of the toenails 6.0% 3/50
Abnormality of skin morphology 2.0% 1/50
Microdontia 2.0% 1/50
Generalized hypoplasia of dental enamel 2.0% 1/50
Low anterior hairline 2.0% 1/50
Sacral dimple 10.0% 5/50
Curly hair 6.0% 3/50
Soft skin 2.0% 1/50
Hyperextensible skin 2.0% 1/50
Ectodermal dysplasia 2.0% 1/50
Single transverse palmar crease 6.0% 3/50
Prominent fingertip pads 8.0% 4/50
Hyperconvex nail 4.0% 2/50
Dermal translucency 2.0% 1/50
Soft, doughy skin 4.0% 2/50
Concave nail 2.0% 1/50
Jaundice 4.0% 2/50
Abnormality of dental enamel 4.0% 2/50
Abnormality of the teeth 2.0% 1/50
Grayish enamel 2.0% 1/50
Oligodontia 2.0% 1/50
Decreased palmar creases 2.0% 1/50
Fine hair 4.0% 2/50
Fair hair 4.0% 2/50
Bruising susceptibility 2.0% 1/50
Carious teeth 4.0% 2/50
Abnormal subcutaneous fat tissue distribution 2.0% 1/50
Small nail 2.0% 1/50
Profuse pigmented skin lesions 2.0% 1/50
Abnormality of the hairline 2.0% 1/50
Nail dysplasia 2.0% 1/50
Blue nevus 2.0% 1/50
Incisor macrodontia 2.0% 1/50
Endocrine / Immunological / Metabolic    
Abnormality of the endocrine system 13.3% 6/45
Decreased serum insulin-like growth factor 1 2.2% 1/45
Abnormality of circulating hormone level 2.2% 1/45
Growth hormone deficiency 6.7% 3/45
Hypothyroidism 4.4% 2/45
Thyroid-stimulating hormone excess 2.2% 1/45
Abnormality of the metabolic system 20.8% 10/48
Abnormality of mitochondrial metabolism 4.2% 2/48
Abnormal protein O-linked glycosylation 2.1% 1/48
Hypercalciuria 2.1% 1/48
Hypokalemia 2.1% 1/48
Hypoglycemia 2.1% 1/48
Neonatal hypoglycemia 4.2% 2/48
Temperature instability 2.1% 1/48
Albuminuria 2.1% 1/48
Hyperkalemia 2.1% 1/48
Decreased serum creatinine 2.1% 1/48
Hypernatremia 2.1% 1/48
Decreased urinary potassium 2.1% 1/48
Increased serum lactate 2.1% 1/48
Abnormality of acid-base homeostasis 2.1% 1/48
Abnormality of temperature regulation 2.1% 1/48
Abnormality of the immune system 33.3% 16/48
Recurrent urinary tract infections 6.3% 3/48
Recurrent otitis media 14.6% 7/48
Pancreatitis 2.1% 1/48
Pneumonia 4.2% 2/48
IgA deficiency 6.3% 3/48
IgG deficiency 2.1% 1/48
Abnormal immunoglobulin level 2.1% 1/48
Recurrent respiratory infections 4.2% 2/48
Recurrent viral infections 2.1% 1/48
Specific antibody deficiency 2.1% 1/48
Abnormality of T cell number 4.2% 2/48
Sepsis 2.1% 1/48
Decreased antibody level in blood 2.1% 1/48
Recurrent infections 2.1% 1/48
Otitis media 2.1% 1/48
Recurrent bronchitis 2.1% 1/48
Recurrent pneumonia 2.1% 1/48
Recurrent upper respiratory tract infections 4.2% 2/48
Neoplasia    
Neoplasia 4.0% 2/50
Medulloblastoma 2.0% 1/50
Osteochondroma 2.0% 1/50
Hemangioma 2.0% 1/50