Patient Overview : 55

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 50.9% 28/55
Female 49.1% 27/55
Indifferent 0% 0/55
Unknown 0% 0/55
General    
Birth Length abnormalities 3.6% 2/55
< P3 : Birth length less than 3rd percentile 3.6% 2/55
Birth Weight abnormalities 25.5% 14/55
< P3 : Small for gestational age 25.5% 14/55
Birth Head circumference abnormalities 1.8% 1/55
< P3 : Congenital microcephaly 1.8% 1/55
Current Height abnormalities 50.9% 28/55
< P3 : Short stature 50.9% 28/55
Current Weight abnormalities 30.9% 17/55
< P3 : Decreased body weight 29.1% 16/55
> P98 : Increased body weight 1.8% 1/55
Current Head circumference abnormalities 23.6% 13/55
< P3 : Microcephaly 21.8% 12/55
> P98 : Macrocephaly 1.8% 1/55
Neurology    
Neurological abnormalities 88.7% 47/53
Generalized hypotonia 45.3% 24/53
Seizures 20.8% 11/53
Global developmental delay 15.1% 8/53
EEG abnormality 11.3% 6/53
Developmental regression 7.5% 4/53
Febrile seizures 7.5% 4/53
Focal seizures with impairment of consciousness or awareness 7.5% 4/53
Absence seizures 5.7% 3/53
Generalized tonic-clonic seizures 5.7% 3/53
Neonatal hypotonia 5.7% 3/53
Complex febrile seizures 3.8% 2/53
EEG with abnormally slow frequencies 3.8% 2/53
Gait disturbance 3.8% 2/53
Generalized neonatal hypotonia 3.8% 2/53
Neurodevelopmental delay 3.8% 2/53
Severe global developmental delay 3.8% 2/53
Severe muscular hypotonia 3.8% 2/53
Status epilepticus 3.8% 2/53
Toe walking 3.8% 2/53
Unsteady gait 3.8% 2/53
Abnormality of coordination 1.9% 1/53
Central hypotonia 1.9% 1/53
Decreased patellar reflex 1.9% 1/53
Difficulty standing 1.9% 1/53
Dystonia 1.9% 1/53
EEG with focal sharp waves 1.9% 1/53
EEG with focal slow activity 1.9% 1/53
EEG with central focal spikes 1.9% 1/53
EEG with occipital slowing 1.9% 1/53
EEG with intermittent slow activity 1.9% 1/53
EMG abnormality 1.9% 1/53
Focal seizures 1.9% 1/53
Hemiparesis 1.9% 1/53
Hypertonia 1.9% 1/53
Impaired pain sensation 1.9% 1/53
Infantile muscular hypotonia 1.9% 1/53
Muscular hypotonia of the trunk 1.9% 1/53
Muscular hypotonia 1.9% 1/53
Nystagmus 1.9% 1/53
Peripheral demyelination 1.9% 1/53
Polyneuropathy 1.9% 1/53
Postural instability 1.9% 1/53
Severe neonatal hypotonia in males 1.9% 1/53
Shuffling gait 1.9% 1/53
Spastic diplegia 1.9% 1/53
Spasticity 1.9% 1/53
Spastic tetraplegia 1.9% 1/53
Behavioral problems 58.0% 29/50
Sleep disturbance 18.0% 9/50
Behavioral abnormality 16.0% 8/50
Autism 10.0% 5/50
Short attention span 8.0% 4/50
Autistic behavior 6.0% 3/50
Hyperactivity 6.0% 3/50
Insomnia 6.0% 3/50
Self-injurious behavior 6.0% 3/50
Aggressive behavior 4.0% 2/50
Global developmental delay 4.0% 2/50
Repetitive compulsive behavior 4.0% 2/50
Stereotypic behavior 4.0% 2/50
Abnormal aggressive, impulsive or violent behavior 2.0% 1/50
Anxiety 2.0% 1/50
Auditory hallucinations 2.0% 1/50
Hyperacusis 2.0% 1/50
Impaired social interactions 2.0% 1/50
Low frustration tolerance 2.0% 1/50
No social interaction 2.0% 1/50
Poor eye contact 2.0% 1/50
Recurrent hand flapping 2.0% 1/50
Restlessness 2.0% 1/50
Brain abnormality 80.9% 38/47
Ventriculomegaly 40.4% 19/47
Abnormality of the corpus callosum 21.3% 10/47
Cortical dysplasia 14.9% 7/47
Hypoplasia of the corpus callosum 14.9% 7/47
Abnormality of the cerebral white matter 10.6% 5/47
Abnormality of the cerebellum 8.5% 4/47
Widened subarachnoid space 8.5% 4/47
Cavum septum pellucidum 6.4% 3/47
Dilation of lateral ventricles 6.4% 3/47
Extra-axial cerebrospinal fluid accumulation 6.4% 3/47
Gliosis 6.4% 3/47
Perisylvian polymicrogyria 6.4% 3/47
Polymicrogyria 6.4% 3/47
Abnormality of the fourth ventricle 4.3% 2/47
Abnormality of lateral ventricle 4.3% 2/47
Arachnoid cyst 4.3% 2/47
Cerebellar hypoplasia 4.3% 2/47
Heterotopia 4.3% 2/47
Hydrocephalus 4.3% 2/47
Periventricular gray matter heterotopia 4.3% 2/47
Abnormality of the periventricular white matter 2.1% 1/47
Abnormality of the third ventricle 2.1% 1/47
Abnormality of the cerebrum 2.1% 1/47
Abnormality of the cerebral cortex 2.1% 1/47
Arnold-Chiari malformation 2.1% 1/47
Asymmetric ventricles 2.1% 1/47
Brain atrophy 2.1% 1/47
Cerebral atrophy 2.1% 1/47
Communicating hydrocephalus 2.1% 1/47
Cortical gyral simplification 2.1% 1/47
Delayed CNS myelination 2.1% 1/47
Dysplastic corpus callosum 2.1% 1/47
Enlarged cisterna magna 2.1% 1/47
Enlarged fetal cisterna magna 2.1% 1/47
Ischemic stroke 2.1% 1/47
Limbic malformations 2.1% 1/47
Morphological abnormality of the central nervous system 2.1% 1/47
Multifocal cerebral white matter abnormalities 2.1% 1/47
Noncommunicating hydrocephalus 2.1% 1/47
Optic nerve hypoplasia 2.1% 1/47
Periventricular leukomalacia 2.1% 1/47
Progressive ventriculomegaly 2.1% 1/47
Small posterior fossa 2.1% 1/47
Transient ischemic attack 2.1% 1/47
Facial abnormalities    
Abnormality of the ear 68.2% 30/44
Low-set ears 47.7% 21/44
Posteriorly rotated ears 11.4% 5/44
Abnormality of the pinna 4.5% 2/44
Macrotia 4.5% 2/44
Protruding ear 4.5% 2/44
Abnormality of earlobe 2.3% 1/44
Hypoplastic helices 2.3% 1/44
Low-set, posteriorly rotated ears 2.3% 1/44
Microtia 2.3% 1/44
Abnormality of the eye 95.8% 46/48
Downslanted palpebral fissures 50.0% 24/48
Strabismus 43.8% 21/48
Deeply set eye 25.0% 12/48
Epicanthus 18.8% 9/48
Hypertelorism 12.5% 6/48
Esotropia 8.3% 4/48
Long palpebral fissure 6.3% 3/48
Prominent epicanthal folds 6.3% 3/48
Exotropia 4.2% 2/48
Abnormality of eye movement 2.1% 1/48
Aplasia/Hypoplasia affecting the eye 2.1% 1/48
Cleft eyelid 2.1% 1/48
Horizontal eyebrow 2.1% 1/48
Proptosis 2.1% 1/48
Sparse lateral eyebrow 2.1% 1/48
Synophrys 2.1% 1/48
Unilateral ptosis 2.1% 1/48
Upslanted palpebral fissure 2.1% 1/48
Abnormality of the nose 72.1% 31/43
Abnormality of the nasal bridge 27.9% 12/43
Wide nasal bridge 16.3% 7/43
Depressed nasal bridge 11.6% 5/43
Short nose 11.6% 5/43
Bulbous nose 7.0% 3/43
Broad nasal tip 4.7% 2/43
Underdeveloped nasal alae 4.7% 2/43
Abnormality of the nares 2.3% 1/43
Abnormality of the nasolabial region 2.3% 1/43
Convex nasal ridge 2.3% 1/43
Flared nostrils 2.3% 1/43
Low hanging columella 2.3% 1/43
Prominent nose 2.3% 1/43
Wide nasal base 2.3% 1/43
Abnormality of the mouth 75.0% 33/44
Short philtrum 40.9% 18/44
Downturned corners of mouth 13.6% 6/44
Thin upper lip vermilion 13.6% 6/44
Narrow mouth 9.1% 4/44
Smooth philtrum 9.1% 4/44
Bifid uvula 4.5% 2/44
Cleft palate 4.5% 2/44
Everted lower lip vermilion 4.5% 2/44
High palate 4.5% 2/44
Thick lower lip vermilion 4.5% 2/44
Thin vermilion border 4.5% 2/44
Abnormality of the maxilla 2.3% 1/44
Ankyloglossia 2.3% 1/44
Dental malocclusion 2.3% 1/44
Long philtrum 2.3% 1/44
Open mouth 2.3% 1/44
Overbite 2.3% 1/44
Thick vermilion border 2.3% 1/44
Thin lower lip vermilion 2.3% 1/44
Widely spaced teeth 2.3% 1/44
Visual and hearing impairments    
Abnormal hearing 15.7% 8/51
Bilateral sensorineural hearing impairment 3.9% 2/51
Hearing impairment 3.9% 2/51
Mild hearing impairment 3.9% 2/51
Bilateral conductive hearing impairment 2.0% 1/51
Hearing abnormality 2.0% 1/51
Abnormal vision 43.1% 22/51
Hypermetropia 17.6% 9/51
Cortical visual impairment 9.8% 5/51
Myopia 7.8% 4/51
Astigmatism 5.9% 3/51
High-grade hypermetropia 3.9% 2/51
Abnormality of vision 2.0% 1/51
Abnormal eye physiology 2.0% 1/51
Amblyopia 2.0% 1/51
Blue sclerae 2.0% 1/51
Optic nerve hypoplasia 2.0% 1/51
Progressive visual loss 2.0% 1/51
Reduced visual acuity 2.0% 1/51
Severe photosensitivity 2.0% 1/51
Slow saccadic eye movements 2.0% 1/51
Strabismus 2.0% 1/51
Heart    
Abnormality of the heart 31.4% 16/51
Ventricular septal defect 9.8% 5/51
Hypertension 7.8% 4/51
Atria septal defect 5.9% 3/51
Secundum atrial septal defect 3.9% 2/51
Abnormal heart morphology 2.0% 1/51
Abnormality of the systemic arterial tree 2.0% 1/51
Abnormal branching pattern of the aortic arch 2.0% 1/51
Abnormality of cardiovascular system physiology 2.0% 1/51
Arrhythmia 2.0% 1/51
Bicuspid aortic valve 2.0% 1/51
Dysplastic aortic valve 2.0% 1/51
Heart murmur 2.0% 1/51
Hypoplastic left heart 2.0% 1/51
Patent ductus arteriosus 2.0% 1/51
Patent foramen ovale 2.0% 1/51
Patent ductus arteriosus after birth at term 2.0% 1/51
Primum atrial septal defect 2.0% 1/51
Gastrointestinal    
Gastrointestinal abnormalities 72.0% 36/50
Feeding difficulties in infancy 38.0% 19/50
Feeding difficulties 28.0% 14/50
Dysphagia 10.0% 5/50
Gastroesophageal reflux 10.0% 5/50
Gastrostomy tube feeding in infancy 10.0% 5/50
Constipation 8.0% 4/50
Duodenal atresia 4.0% 2/50
Gastroparesis 4.0% 2/50
Intestinal malrotation 4.0% 2/50
Nasogastric tube feeding in infancy 4.0% 2/50
Poor suck 4.0% 2/50
Abnormality of the duodenum 2.0% 1/50
Abnormal eating behavior 2.0% 1/50
Absent gallbladder 2.0% 1/50
Chronic diarrhea 2.0% 1/50
Diarrhea 2.0% 1/50
Exocrine pancreatic insufficiency 2.0% 1/50
Gastrointestinal dysmotility 2.0% 1/50
Hypoplasia of the gallbladder 2.0% 1/50
Nausea and vomiting 2.0% 1/50
Oral-pharyngeal dysphagia 2.0% 1/50
Poor appetite 2.0% 1/50
Umbilical hernia 2.0% 1/50
Vomiting 2.0% 1/50
Urogenital    
Abnormality of the urogenital system 43.1% 22/51
Horseshoe kidney 11.8% 6/51
Multiple renal cysts 5.9% 3/51
Multicystic kidney dysplasia 3.9% 2/51
Abnormal renal morphology 2.0% 1/51
Bilateral renal hypoplasia 2.0% 1/51
Cryptorchidism 2.0% 1/51
Enlarged kidneys 2.0% 1/51
Hydronephrosis 2.0% 1/51
Hypoplastic labia majora 2.0% 1/51
Hypoplasia of the ovary 2.0% 1/51
Hypoplasia of the uterus 2.0% 1/51
Inguinal hernia 2.0% 1/51
Nephrocalcinosis 2.0% 1/51
Polyuria 2.0% 1/51
Renal malrotation 2.0% 1/51
Renal dysplasia 2.0% 1/51
Renal hypoplasia 2.0% 1/51
Shawl scrotum 2.0% 1/51
Solitary renal cyst 2.0% 1/51
Unilateral renal atrophy 2.0% 1/51
Unilateral renal agenesis 2.0% 1/51
Unilateral cryptorchidism 2.0% 1/51
Unilateral renal hypoplasia 2.0% 1/51
Uric acid urolithiasis independent of gout 2.0% 1/51
Vesicoureteral reflux 2.0% 1/51
Skeleton    
Skeletal abnormalities 80.4% 41/51
Joint hypermobility 25.5% 13/51
Pes planus 19.6% 10/51
Short foot 9.8% 5/51
Abnormality of the curvature of the vertebral column 7.8% 4/51
Delayed skeletal maturation 5.9% 3/51
Hip dysplasia 5.9% 3/51
Joint laxity 5.9% 3/51
Sagittal craniosynostosis 5.9% 3/51
Short toe 5.9% 3/51
Abnormality of limbs 3.9% 2/51
Cervical ribs 3.9% 2/51
Dolichocephaly 3.9% 2/51
Finger joint hypermobility 3.9% 2/51
Flexion contracture 3.9% 2/51
Genu valgum 3.9% 2/51
Hemivertebrae 3.9% 2/51
Hyperextensibility at elbow 3.9% 2/51
Hypertrophy of the lower limb 3.9% 2/51
Long fingers 3.9% 2/51
Short distal phalanx of finger 3.9% 2/51
Short finger 3.9% 2/51
Abnormality of the foot 2.0% 1/51
Abnormality of the hip bone 2.0% 1/51
Abnormality of the hip joint 2.0% 1/51
Abnormality of the thumb 2.0% 1/51
Abnormality of the thorax 2.0% 1/51
Abnormality of the femoral neck 2.0% 1/51
Absent thumb 2.0% 1/51
Aplasia/Hypoplasia of the 4th toe 2.0% 1/51
Aplasia/Hypoplasia of the thumb 2.0% 1/51
Arachnodactyly 2.0% 1/51
Aseptic necrosis 2.0% 1/51
Avascular necrosis of the capital femoral epiphysis 2.0% 1/51
Bilateral talipes equinovarus 2.0% 1/51
Brachydactyly syndrome 2.0% 1/51
Camptodactyly of finger 2.0% 1/51
Clinodactyly of the 5th finger 2.0% 1/51
Clinodactyly 2.0% 1/51
Craniosynostosis 2.0% 1/51
Cubitus valgus 2.0% 1/51
Disproportionate short-trunk short stature 2.0% 1/51
Disproportionate tall stature 2.0% 1/51
Distal arthrogryposis 2.0% 1/51
Generalized osteoporosis 2.0% 1/51
Hypermobility of interphalangeal joints 2.0% 1/51
Hypertrophy of the upper limb 2.0% 1/51
Hyperlordosis 2.0% 1/51
Hypoplasia of the maxilla 2.0% 1/51
Increased arm span 2.0% 1/51
Kyphoscoliosis 2.0% 1/51
Lumbar hyperlordosis 2.0% 1/51
Osteoporosis 2.0% 1/51
Pectus excavatum 2.0% 1/51
Plagiocephaly 2.0% 1/51
Proximal placement of thumb 2.0% 1/51
Reduced bone mineral density 2.0% 1/51
Rib fusion 2.0% 1/51
Scoliosis 2.0% 1/51
Skeletal muscle atrophy 2.0% 1/51
Slender finger 2.0% 1/51
Small finger 2.0% 1/51
Small posterior fossa 2.0% 1/51
Small hand 2.0% 1/51
Structural foot deformity 2.0% 1/51
Syndactyly 2.0% 1/51
Talipes equinovarus 2.0% 1/51
Tapered finger 2.0% 1/51
Thoracic hemivertebrae 2.0% 1/51
Trigonocephaly 2.0% 1/51
Unicoronal synostosis 2.0% 1/51
Valgus foot deformity 2.0% 1/51
Vertebral fusion 2.0% 1/51
2-3 toe syndactyly 2.0% 1/51
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 46.2% 24/52
Sacral dimple 9.6% 5/52
Curly hair 7.7% 4/52
Prominent fingertip pads 7.7% 4/52
Abnormality of the toenails 5.8% 3/52
Fine hair 5.8% 3/52
Single transverse palmar crease 5.8% 3/52
Abnormality of the hairline 3.8% 2/52
Abnormality of dental enamel 3.8% 2/52
Carious teeth 3.8% 2/52
Fair hair 3.8% 2/52
Hyperconvex nail 3.8% 2/52
Jaundice 3.8% 2/52
Soft, doughy skin 3.8% 2/52
Abnormal subcutaneous fat tissue distribution 1.9% 1/52
Abnormality of skin morphology 1.9% 1/52
Abnormality of the teeth 1.9% 1/52
Blue nevus 1.9% 1/52
Bridged palmar crease 1.9% 1/52
Bruising susceptibility 1.9% 1/52
Concave nail 1.9% 1/52
Decreased palmar creases 1.9% 1/52
Dermal translucency 1.9% 1/52
Dystrophic toenail 1.9% 1/52
Ectodermal dysplasia 1.9% 1/52
Generalized hypoplasia of dental enamel 1.9% 1/52
Grayish enamel 1.9% 1/52
Hyperextensible skin 1.9% 1/52
Hyperkeratosis 1.9% 1/52
Incisor macrodontia 1.9% 1/52
Inguinal freckling 1.9% 1/52
Low anterior hairline 1.9% 1/52
Melanonychia 1.9% 1/52
Microdontia 1.9% 1/52
Multiple cafe-au-lait spots 1.9% 1/52
Nail dystrophy 1.9% 1/52
Nail dysplasia 1.9% 1/52
Oligodontia 1.9% 1/52
Profuse pigmented skin lesions 1.9% 1/52
Small nail 1.9% 1/52
Soft skin 1.9% 1/52
Yellow nails 1.9% 1/52
Endocrine / Immunological / Metabolic    
Abnormality of the endocrine system 14.9% 7/47
Growth hormone deficiency 8.5% 4/47
Hypothyroidism 4.3% 2/47
Abnormality of circulating hormone level 2.1% 1/47
Decreased serum insulin-like growth factor 1 2.1% 1/47
Thyroid-stimulating hormone excess 2.1% 1/47
Abnormality of the metabolic system 20.0% 10/50
Abnormality of mitochondrial metabolism 4.0% 2/50
Neonatal hypoglycemia 4.0% 2/50
Abnormality of acid-base homeostasis 2.0% 1/50
Abnormal protein O-linked glycosylation 2.0% 1/50
Abnormality of temperature regulation 2.0% 1/50
Albuminuria 2.0% 1/50
Decreased urinary potassium 2.0% 1/50
Decreased serum creatinine 2.0% 1/50
Hypercalciuria 2.0% 1/50
Hyperkalemia 2.0% 1/50
Hypernatremia 2.0% 1/50
Hypoglycemia 2.0% 1/50
Hypokalemia 2.0% 1/50
Increased serum lactate 2.0% 1/50
Temperature instability 2.0% 1/50
Abnormality of the immune system 34.0% 17/50
Recurrent otitis media 14.0% 7/50
IgA deficiency 8.0% 4/50
Recurrent urinary tract infections 6.0% 3/50
Abnormality of T cell number 4.0% 2/50
Pneumonia 4.0% 2/50
Recurrent respiratory infections 4.0% 2/50
Recurrent upper respiratory tract infections 4.0% 2/50
Abnormal immunoglobulin level 2.0% 1/50
Decreased antibody level in blood 2.0% 1/50
IgG deficiency 2.0% 1/50
Otitis media 2.0% 1/50
Pancreatitis 2.0% 1/50
Recurrent infections 2.0% 1/50
Recurrent pneumonia 2.0% 1/50
Recurrent bronchitis 2.0% 1/50
Recurrent viral infections 2.0% 1/50
Sepsis 2.0% 1/50
Specific antibody deficiency 2.0% 1/50
Neoplasia    
Neoplasia 3.8% 2/52
Hemangioma 1.9% 1/52
Medulloblastoma 1.9% 1/52
Osteochondroma 1.9% 1/52