Patient Overview : 20

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 60.0% 12/20
Female 40.0% 8/20
Neurology    
Neurological abnormalities 88.2% 15/17
Generalized hypotonia 47.1% 8/17
Ataxia 23.5% 4/17
Absence seizures 11.8% 2/17
EEG abnormality 11.8% 2/17
Seizures 11.8% 2/17
Absent speech 5.9% 1/17
Central hypotonia 5.9% 1/17
Delayed speech and language development 5.9% 1/17
Epileptic spasms 5.9% 1/17
Generalized seizures 5.9% 1/17
Generalized tonic seizures 5.9% 1/17
Global developmental delay 5.9% 1/17
Hearing impairment 5.9% 1/17
Horizontal nystagmus 5.9% 1/17
Intellectual disability 5.9% 1/17
Intellectual disability, moderate 5.9% 1/17
Oromotor apraxia 5.9% 1/17
Spastic gait 5.9% 1/17
Specific learning disability 5.9% 1/17
Visual impairment 5.9% 1/17
Behavioral problems 55.0% 11/20
Attention deficit hyperactivity disorder 20.0% 4/20
Behavioral abnormality 15.0% 3/20
Autism 10.0% 2/20
Fatigue 10.0% 2/20
Self-injurious behavior 10.0% 2/20
Sleep disturbance 10.0% 2/20
Abnormal social behavior 5.0% 1/20
Aggressive behavior 5.0% 1/20
Anxiety 5.0% 1/20
Autistic behavior 5.0% 1/20
Depression 5.0% 1/20
Difficulty walking 5.0% 1/20
Impaired social interactions 5.0% 1/20
Restrictive behavior 5.0% 1/20
Sleep apnea 5.0% 1/20
Brain abnormality 75.0% 12/16
Hypoplasia of the corpus callosum 37.5% 6/16
Abnormality of the cerebral ventricles 6.3% 1/16
Abnormality of the periventricular white matter 6.3% 1/16
Aplasia/Hypoplasia of the cerebral white matter 6.3% 1/16
Arachnoid cyst 6.3% 1/16
Asymmetric ventricles 6.3% 1/16
Brainstem dysplasia 6.3% 1/16
Brain abscess 6.3% 1/16
Cavum septum pellucidum 6.3% 1/16
Cerebellar atrophy 6.3% 1/16
Cerebellar hypoplasia 6.3% 1/16
Cortical dysplasia 6.3% 1/16
Diffuse cerebral atrophy 6.3% 1/16
Dilation of lateral ventricles 6.3% 1/16
EEG abnormality 6.3% 1/16
Frontal cortical atrophy 6.3% 1/16
Global brain atrophy 6.3% 1/16
Microcephaly 6.3% 1/16
Periventricular leukomalacia 6.3% 1/16
Periventricular cysts 6.3% 1/16
Perivascular spaces 6.3% 1/16
Facial abnormalities    
Abnormality of the ear 20.0% 2/10
Abnormality of the outer ear 10.0% 1/10
Abnormality of the eye 33.3% 3/9
Hypermetropia 11.1% 1/9
Hypotelorism 11.1% 1/9
Long palpebral fissure 11.1% 1/9
Thick eyebrow 11.1% 1/9
Abnormality of the nose 22.2% 2/9
Anteverted nares 11.1% 1/9
Broad nasal tip 11.1% 1/9
Wide nasal ridge 11.1% 1/9
Abnormality of the mouth 40.0% 4/10
Gingival overgrowth 10.0% 1/10
High palate 10.0% 1/10
Narrow palate 10.0% 1/10
Open mouth 10.0% 1/10
Oromotor apraxia 10.0% 1/10
Smooth philtrum 10.0% 1/10
Thick lower lip vermilion 10.0% 1/10
Thin upper lip vermilion 10.0% 1/10
Visual and hearing impairments    
Abnormal hearing 21.1% 4/19
Hearing impairment 15.8% 3/19
Mild hearing impairment 5.3% 1/19
Abnormal vision 52.6% 10/19
Strabismus 21.1% 4/19
Abnormality of refraction 10.5% 2/19
Abnormality of the optic nerve 5.3% 1/19
Abnormality of vision 5.3% 1/19
Astigmatism 5.3% 1/19
Cortical visual impairment 5.3% 1/19
Hypermetropia 5.3% 1/19
Myopia 5.3% 1/19
Nystagmus 5.3% 1/19
Poor eye contact 5.3% 1/19
Heart    
Abnormality of the heart 7.7% 1/13
Bicuspid aortic valve 7.7% 1/13
Gastrointestinal    
Gastrointestinal abnormalities 40.0% 8/20
Constipation 10.0% 2/20
Feeding difficulties 10.0% 2/20
Gastroesophageal reflux 10.0% 2/20
Drooling 5.0% 1/20
Feeding difficulties in infancy 5.0% 1/20
Gastrointestinal dysmotility 5.0% 1/20
Ileal atresia 5.0% 1/20
Intestinal malrotation 5.0% 1/20
Malnutrition 5.0% 1/20
Ulcerative colitis 5.0% 1/20
Urogenital    
Abnormality of the urogenital system 18.8% 3/16
Cryptorchidism 6.3% 1/16
Menorrhagia 6.3% 1/16
Nocturia 6.3% 1/16
Shawl scrotum 6.3% 1/16
Skeleton    
Skeletal abnormalities 50.0% 9/18
Pes planus 16.7% 3/18
Broad hallux 11.1% 2/18
Joint laxity 11.1% 2/18
Prominent fingertip pads 11.1% 2/18
Scoliosis 11.1% 2/18
Abnormality of the knees 5.6% 1/18
Bifid ribs 5.6% 1/18
Broad thumb 5.6% 1/18
Hallux valgus 5.6% 1/18
Hip dysplasia 5.6% 1/18
Limitation of joint mobility 5.6% 1/18
Long palm 5.6% 1/18
Narrow palm 5.6% 1/18
Overlapping toe 5.6% 1/18
Positional foot deformity 5.6% 1/18
Tapered finger 5.6% 1/18
Toe syndactyly 5.6% 1/18
3-4 finger syndactyly 5.6% 1/18
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 20.0% 3/15
Facial erythema 6.7% 1/15
Irregular hyperpigmentation 6.7% 1/15
Short nail 6.7% 1/15
Endocrine / Immunological / Metabolic    
Abnormality of the metabolic system 10.0% 1/10
Hyperprolinemia 10.0% 1/10
Abnormality of the immune system 25.0% 3/12
Asthma 8.3% 1/12
Recurrent otitis media 8.3% 1/12
Recurrent infections 8.3% 1/12