Patient Overview : 22

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 54.5% 12/22
Female 45.5% 10/22
Indifferent 0% 0/22
Unknown 0% 0/22
General    
Birth Length abnormalities 0% 0/22
Birth Weight abnormalities 0% 0/22
Birth Head circumference abnormalities 0% 0/22
Current Height abnormalities 9.1% 2/22
< P3 : Short stature 9.1% 2/22
Current Weight abnormalities 22.7% 5/22
< P3 : Decreased body weight 22.7% 5/22
Current Head circumference abnormalities 13.6% 3/22
< P3 : Microcephaly 4.5% 1/22
> P98 : Macrocephaly 9.1% 2/22
Neurology    
Neurological abnormalities 90.5% 19/21
Neonatal hypotonia 90.5% 19/21
Sleep disturbance 38.1% 8/21
Dystonia 28.6% 6/21
Ataxia 19.0% 4/21
Chorea 19.0% 4/21
Hypersomnia 14.3% 3/21
Dysphagia 9.5% 2/21
Hyperkinesis 9.5% 2/21
Myoclonus 9.5% 2/21
Sleep apnea 9.5% 2/21
Tremor 9.5% 2/21
Abnormal autonomic nervous system physiology 4.8% 1/21
Athetoid cerebral palsy 4.8% 1/21
Athetosis 4.8% 1/21
Central apnea 4.8% 1/21
Choreoathetosis 4.8% 1/21
Drooling 4.8% 1/21
Gait ataxia 4.8% 1/21
Infantile spasms 4.8% 1/21
Seizures 4.8% 1/21
Behavioral problems 100.0% 18/18
Self-biting 38.9% 7/18
Stereotypic behavior 33.3% 6/18
Autism 22.2% 4/18
Head-banging 11.1% 2/18
Hyperactivity 11.1% 2/18
Repetitive compulsive behavior 11.1% 2/18
Agitation 5.6% 1/18
Autistic behavior 5.6% 1/18
Bruxism 5.6% 1/18
Impulsivity 5.6% 1/18
Low frustration tolerance 5.6% 1/18
Obsessive-compulsive behavior 5.6% 1/18
Psychosis 5.6% 1/18
Schizophrenia 5.6% 1/18
Self-injurious behavior 5.6% 1/18
Skin-picking 5.6% 1/18
Tics 5.6% 1/18
Brain abnormality 55.6% 5/9
Abnormality of the periventricular white matter 11.1% 1/9
Abnormality of the cerebral white matter 11.1% 1/9
Delayed myelination 11.1% 1/9
Heterotopia 11.1% 1/9
Hypsarrhythmia 11.1% 1/9
Visual and hearing impairments    
Abnormal vision 90.0% 18/20
Esotropia 35.0% 7/20
Nystagmus 30.0% 6/20
Strabismus 20.0% 4/20
Hypermetropia 15.0% 3/20
Exotropia 5.0% 1/20
Visual impairment 5.0% 1/20
Heart    
Abnormality of the heart 18.2% 2/11
Cyanotic episode 18.2% 2/11
Pulmonary    
Abnormality of the lungs 16.7% 1/6
Laryngomalacia 16.7% 1/6
Gastrointestinal    
Gastrointestinal abnormalities 65.0% 13/20
Feeding difficulties 30.0% 6/20
Gastroesophageal reflux 30.0% 6/20
Constipation 15.0% 3/20
Chronic diarrhea 5.0% 1/20
Feeding difficulties in infancy 5.0% 1/20
Pancreatitis 5.0% 1/20
Urogenital    
Abnormality of the urogenital system 17.6% 3/17
Urinary retention 11.8% 2/17
Cryptorchidism 5.9% 1/17
Skeleton    
Skeletal abnormalities 69.2% 9/13
Abnormality of the thorax 7.7% 1/13
Bilateral talipes equinovarus 7.7% 1/13
Choreoathetosis 7.7% 1/13
Joint laxity 7.7% 1/13
Lumbar hyperlordosis 7.7% 1/13
Myoclonus 7.7% 1/13
Pes planus 7.7% 1/13
Progressive flexion contractures 7.7% 1/13
Talipes valgus 7.7% 1/13
Talipes 7.7% 1/13
Torticollis 7.7% 1/13
2-3 toe syndactyly 7.7% 1/13