Patient Overview : 16

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 56.3% 9/16
Female 43.8% 7/16
General    
Birth Length abnormalities 0% 0/0
Birth Weight abnormalities 0% 0/0
Birth Head circumference abnormalities 0% 0/0
Current Height abnormalities 12.5% 2/16
> P98 : Tall stature 6.3% 1/16
< P3 : Short stature 6.3% 1/16
Current Weight abnormalities 12.5% 2/16
> P98 : Increased body weight 6.3% 1/16
< P3 : Decreased body weight 6.3% 1/16
Current Head circumference abnormalities 50.0% 8/16
> P98 : Macrocephaly 12.5% 2/16
< P3 : Microcephaly 37.5% 6/16
Neurology    
Neurological abnormalities 100.0% 16/16
Global developmental delay 100.0% 16/16
Severe expressive language delay 62.5% 10/16
Generalized hypotonia 50.0% 8/16
Generalized tonic-clonic seizures 37.5% 6/16
Developmental regression 12.5% 2/16
Epileptic encephalopathy 12.5% 2/16
Febrile seizures 12.5% 2/16
Focal seizures 12.5% 2/16
Muscular hypotonia of the trunk 12.5% 2/16
Abnormal head movements 6.3% 1/16
Absence seizures with eyelid myoclonia 6.3% 1/16
Absence seizures 6.3% 1/16
Broad-based gait 6.3% 1/16
Chorea 6.3% 1/16
Confusion 6.3% 1/16
Delayed fine motor development 6.3% 1/16
Hypertonia 6.3% 1/16
Hypsarrhythmia 6.3% 1/16
Infantile axial hypotonia 6.3% 1/16
Limb tremor 6.3% 1/16
Seizures 6.3% 1/16
Severe receptive language delay 6.3% 1/16
Status epilepticus 6.3% 1/16
Torticollis 6.3% 1/16
Transient psychotic episodes 6.3% 1/16
Unilateral multifocal epileptiform discharges 6.3% 1/16
Weakness of facial musculature 6.3% 1/16
Behavioral problems 60.0% 9/15
Autism 26.7% 4/15
Attention deficit hyperactivity disorder 13.3% 2/15
Stereotypic behavior 13.3% 2/15
Abnormal emotion/affect behavior 6.7% 1/15
Aggressive behavior 6.7% 1/15
Autistic behavior 6.7% 1/15
Behavioral abnormality 6.7% 1/15
Poor eye contact 6.7% 1/15
Self-mutilation 6.7% 1/15
Sleep disturbance 6.7% 1/15
Brain abnormality 62.5% 10/16
Ventriculomegaly 18.8% 3/16
Abnormality of the corpus callosum 12.5% 2/16
Abnormality of the pons 12.5% 2/16
Cerebellar atrophy 12.5% 2/16
Cerebral atrophy 12.5% 2/16
EEG with generalized spikes 12.5% 2/16
EEG with generalized sharp slow waves 12.5% 2/16
Widened subarachnoid space 12.5% 2/16
Abnormality of the optic nerve 6.3% 1/16
Abnormality of the cerebral white matter 6.3% 1/16
Abnormality of hindbrain morphology 6.3% 1/16
Cerebral hypomyelination 6.3% 1/16
Choroid plexus cyst 6.3% 1/16
Corpus callosum atrophy 6.3% 1/16
Delayed myelination 6.3% 1/16
Dilation of lateral ventricles 6.3% 1/16
Dilated third ventricle 6.3% 1/16
EEG with centrotemporal focal spike waves 6.3% 1/16
Generalized cerebral atrophy/hypoplasia 6.3% 1/16
Hypoplasia of the corpus callosum 6.3% 1/16
Olivopontocerebellar hypoplasia 6.3% 1/16
Perivascular spaces 6.3% 1/16
Facial abnormalities    
Abnormality of the ear 18.8% 3/16
Abnormality of the pinna 6.3% 1/16
Abnormality of earlobe 6.3% 1/16
Anteverted ears 6.3% 1/16
Low-set ears 6.3% 1/16
Abnormality of the eye 56.3% 9/16
Epicanthus 12.5% 2/16
Megalocornea 12.5% 2/16
Periorbital fullness 12.5% 2/16
Proptosis 12.5% 2/16
Abnormality of the conjunctiva 6.3% 1/16
Almond-shaped palpebral fissure 6.3% 1/16
Bilateral ptosis 6.3% 1/16
Deeply set eye 6.3% 1/16
Hypermetropia 6.3% 1/16
Hypertelorism 6.3% 1/16
Short palpebral fissure 6.3% 1/16
Small palpebral fissure 6.3% 1/16
Upslanted palpebral fissure 6.3% 1/16
Abnormality of the nose 43.8% 7/16
Bulbous nose 31.3% 5/16
Asymmetry of the nares 6.3% 1/16
Bifid nasal tip 6.3% 1/16
Low hanging columella 6.3% 1/16
Underdeveloped nasal alae 6.3% 1/16
Wide nasal bridge 6.3% 1/16
Abnormality of the mouth 43.8% 7/16
Short philtrum 18.8% 3/16
High palate 12.5% 2/16
Everted lower lip vermilion 6.3% 1/16
High, narrow palate 6.3% 1/16
Misalignment of teeth 6.3% 1/16
Narrow mouth 6.3% 1/16
Thick upper lip vermilion 6.3% 1/16
Thin upper lip vermilion 6.3% 1/16
Visual and hearing impairments    
Abnormal hearing 6.7% 1/15
Bilateral sensorineural hearing impairment 6.7% 1/15
Abnormal vision 26.7% 4/15
Cortical visual impairment 6.7% 1/15
Decreased corneal reflex 6.7% 1/15
Impaired smooth pursuit 6.7% 1/15
Retinopathy 6.7% 1/15
Visual loss 6.7% 1/15
Heart    
Abnormality of the heart 18.8% 3/16
Atria septal defect 6.3% 1/16
Heart murmur 6.3% 1/16
Muscular ventricular septal defect 6.3% 1/16
Gastrointestinal    
Gastrointestinal abnormalities 66.7% 10/15
Feeding difficulties 53.3% 8/15
Feeding difficulties in infancy 13.3% 2/15
Constipation 6.7% 1/15
Diastasis recti 6.7% 1/15
Dysphagia 6.7% 1/15
Episodic vomiting 6.7% 1/15
Urogenital    
Abnormality of the urogenital system 6.7% 1/15
Urinary urgency 6.7% 1/15
Skeleton    
Skeletal abnormalities 66.7% 10/15
Plagiocephaly 20.0% 3/15
Adducted thumb 13.3% 2/15
Abnormality of the distal phalanges of the toes 6.7% 1/15
Abnormality of the 3rd finger 6.7% 1/15
Clinodactyly of the 5th finger 6.7% 1/15
Coxa valga 6.7% 1/15
Generalized joint laxity 6.7% 1/15
Hyperlordosis 6.7% 1/15
Hyperextensibility of the knee 6.7% 1/15
Joint hypermobility 6.7% 1/15
Long toe 6.7% 1/15
Long fingers 6.7% 1/15
Micrognathia 6.7% 1/15
obsolete Ulnar deviation of the thumb 6.7% 1/15
Overlapping toe 6.7% 1/15
Ovoid vertebral bodies 6.7% 1/15
Pes planus 6.7% 1/15
Prominent metopic ridge 6.7% 1/15
Reduced bone mineral density 6.7% 1/15
Retrognathia 6.7% 1/15
Sandal gap 6.7% 1/15
Short 5th finger 6.7% 1/15
Trigonocephaly 6.7% 1/15
Ulnar deviation of the 2nd finger 6.7% 1/15
Ulnar deviation of the wrist 6.7% 1/15
Ulnar deviation of the 5th finger 6.7% 1/15
Ulnar deviation of the 3rd finger 6.7% 1/15
Ulnar deviation of the 4th finger 6.7% 1/15
Widely patent fontanelles and sutures 6.7% 1/15
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 60.0% 9/15
Single transverse palmar crease 33.3% 5/15
Bilateral single transverse palmar creases 6.7% 1/15
Bridged palmar crease 6.7% 1/15
Few cafe-au-lait spots 6.7% 1/15
Freckling 6.7% 1/15
Hemangioma 6.7% 1/15
Hyperpigmented nevi 6.7% 1/15
Multiple cafe-au-lait spots 6.7% 1/15
Prominent fingertip pads 6.7% 1/15
Sacral dimple 6.7% 1/15
Trigonocephaly 6.7% 1/15
Endocrine / Immunological / Metabolic    
Abnormality of the metabolic system 6.7% 1/15
Vitamin B12 deficiency 6.7% 1/15
Abnormality of the immune system 13.3% 2/15
Recurrent upper respiratory tract infections 6.7% 1/15
Recurrent infections in infancy and early childhood 6.7% 1/15
Recurrent otitis media 6.7% 1/15
Recurrent urinary tract infections 6.7% 1/15
Neoplasia    
Neoplasia 6.7% 1/15
Neoplasm of the skin 6.7% 1/15