Patient Overview : 37

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 97.3% 36/37
Female 2.7% 1/37
Neurology    
Neurological abnormalities 94.4% 34/36
Generalized hypotonia 63.9% 23/36
Seizures 22.2% 8/36
Generalized tonic-clonic seizures 19.4% 7/36
Ataxia 13.9% 5/36
Gait ataxia 13.9% 5/36
Generalized myoclonic seizures 13.9% 5/36
Atonic seizures 11.1% 4/36
Infantile axial hypotonia 8.3% 3/36
Lower limb spasticity 8.3% 3/36
Spasticity 8.3% 3/36
Abnormal pyramidal signs 5.6% 2/36
Central hypotonia 5.6% 2/36
Dystonia 5.6% 2/36
Focal myoclonic seizures 5.6% 2/36
Limb hypertonia 5.6% 2/36
Multifocal epileptiform discharges 5.6% 2/36
Myoclonus 5.6% 2/36
Neonatal hypotonia 5.6% 2/36
Progressive spasticity 5.6% 2/36
Abdominal distention 2.8% 1/36
Abnormality of the nervous system 2.8% 1/36
Absence seizures 2.8% 1/36
Babinski sign 2.8% 1/36
Cerebral palsy 2.8% 1/36
Facial hypotonia 2.8% 1/36
Focal seizures with impairment of consciousness or awareness 2.8% 1/36
Generalized seizures 2.8% 1/36
Hip contracture 2.8% 1/36
Hyperactive deep tendon reflexes 2.8% 1/36
Knee flexion contracture 2.8% 1/36
Loss of ability to walk in first decade 2.8% 1/36
Lower limb hypertonia 2.8% 1/36
Poor coordination 2.8% 1/36
Progressive truncal ataxia 2.8% 1/36
Stereotypical hand wringing 2.8% 1/36
Truncal ataxia 2.8% 1/36
Unsteady gait 2.8% 1/36
Behavioral problems 78.9% 15/19
Autistic behavior 36.8% 7/19
Stereotypic behavior 31.6% 6/19
Impaired social reciprocity 26.3% 5/19
Poor eye contact 26.3% 5/19
Impaired social interactions 21.1% 4/19
Hyperactivity 10.5% 2/19
Recurrent hand flapping 10.5% 2/19
Stereotypical hand wringing 10.5% 2/19
Abnormal emotion/affect behavior 5.3% 1/19
Aggressive behavior 5.3% 1/19
Drooling 5.3% 1/19
No social interaction 5.3% 1/19
Brain abnormality 80.0% 20/25
Abnormality of the periventricular white matter 20.0% 5/25
Cerebral atrophy 12.0% 3/25
EEG abnormality 12.0% 3/25
Focal white matter lesions 12.0% 3/25
Partial agenesis of the corpus callosum 12.0% 3/25
Cerebellar vermis atrophy 8.0% 2/25
Delayed myelination 8.0% 2/25
Dilated third ventricle 8.0% 2/25
EEG with focal epileptiform discharges 8.0% 2/25
Abnormality of the dentate nucleus 4.0% 1/25
Aplasia/Hypoplasia of the cerebellar vermis 4.0% 1/25
Cerebral hypomyelination 4.0% 1/25
CNS hypomyelination 4.0% 1/25
Dysplastic corpus callosum 4.0% 1/25
Enlarged fetal cisterna magna 4.0% 1/25
Generalized cerebral atrophy/hypoplasia 4.0% 1/25
Hypointensity of cerebral white matter on MRI 4.0% 1/25
Hypoplasia of the corpus callosum 4.0% 1/25
Leukodystrophy 4.0% 1/25
Morphological abnormality of the central nervous system 4.0% 1/25
Perivascular spaces 4.0% 1/25
Facial abnormalities    
Abnormality of the ear 75.0% 12/16
Macrotia 56.3% 9/16
Abnormality of earlobe 12.5% 2/16
Large earlobe 12.5% 2/16
Low-set ears 12.5% 2/16
Abnormality of the ear 6.3% 1/16
Abnormality of the eye 78.6% 11/14
Downslanted palpebral fissures 35.7% 5/14
Deeply set eye 14.3% 2/14
Epicanthus 14.3% 2/14
Hypertelorism 14.3% 2/14
Abnormality of the eyebrow 7.1% 1/14
Short palpebral fissure 7.1% 1/14
Sparse eyebrow 7.1% 1/14
Abnormality of the nose 82.6% 19/23
Narrow nose 34.8% 8/23
Wide nasal base 17.4% 4/23
Wide nose 13.0% 3/23
Anteverted nares 8.7% 2/23
Depressed nasal bridge 8.7% 2/23
Long nose 8.7% 2/23
Prominent nasal bridge 8.7% 2/23
Wide nasal bridge 8.7% 2/23
Narrow nasal tip 4.3% 1/23
Short nose 4.3% 1/23
Underdeveloped nasal alae 4.3% 1/23
Abnormality of the mouth 69.2% 9/13
Narrow mouth 23.1% 3/13
Drooling 15.4% 2/13
Everted lower lip vermilion 15.4% 2/13
Malar flattening 15.4% 2/13
Microdontia 15.4% 2/13
Open mouth 15.4% 2/13
Widely spaced teeth 15.4% 2/13
High palate 7.7% 1/13
Short philtrum 7.7% 1/13
Visual and hearing impairments    
Abnormal vision 75.0% 3/4
Abnormal eye physiology 25.0% 1/4
Astigmatism 25.0% 1/4
Exotropia 25.0% 1/4
Strabismus 25.0% 1/4
Heart    
Abnormality of the heart 50.0% 7/14
Congestive heart failure 21.4% 3/14
Bicuspid aortic valve 7.1% 1/14
Bradycardia 7.1% 1/14
Myocarditis 7.1% 1/14
Patent foramen ovale 7.1% 1/14
Right ventricular failure 7.1% 1/14
Gastrointestinal    
Gastrointestinal abnormalities 96.8% 30/31
Constipation 54.8% 17/31
Gastroesophageal reflux 25.8% 8/31
Feeding difficulties 22.6% 7/31
Feeding difficulties in infancy 12.9% 4/31
Chronic constipation 9.7% 3/31
Dysphagia 9.7% 3/31
Abnormality of the large intestine 6.5% 2/31
Gastrostomy tube feeding in infancy 6.5% 2/31
Abdominal distention 3.2% 1/31
Abnormality of the small intestine 3.2% 1/31
Bowel incontinence 3.2% 1/31
Chronic diarrhea 3.2% 1/31
Intestinal malrotation 3.2% 1/31
Neonatal intestinal obstruction 3.2% 1/31
Urogenital    
Abnormality of the urogenital system 53.3% 8/15
Dilatation of the bladder 26.7% 4/15
Dilatation of the renal pelvis 13.3% 2/15
Urinary incontinence 13.3% 2/15
Abnormality of the genital system 6.7% 1/15
Fetal megacystis 6.7% 1/15
Unilateral cryptorchidism 6.7% 1/15
Urinary retention 6.7% 1/15
Skeleton    
Skeletal abnormalities 78.6% 11/14
Abnormality of digit 14.3% 2/14
Clinodactyly 14.3% 2/14
Fractures of the long bones 14.3% 2/14
Slender toe 14.3% 2/14
Arachnodactyly 7.1% 1/14
Broad foot 7.1% 1/14
Hip Subluxation 7.1% 1/14
Joint laxity 7.1% 1/14
Long foot 7.1% 1/14
Plagiocephaly 7.1% 1/14
Scoliosis 7.1% 1/14
Short foot 7.1% 1/14
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 40.0% 2/5
Thin skin 40.0% 2/5
Pallor 20.0% 1/5
Endocrine / Immunological / Metabolic    
Abnormality of the endocrine system 50.0% 3/6
Hypothyroidism 33.3% 2/6
Pituitary hypothyroidism 16.7% 1/6
Abnormality of the metabolic system 20.0% 2/10
Fever 10.0% 1/10
Increased serum lactate 10.0% 1/10
Abnormality of the immune system 88.9% 24/27
Recurrent respiratory infections 48.1% 13/27
Pneumonia 18.5% 5/27
Recurrent pneumonia 18.5% 5/27
Respiratory tract infection 18.5% 5/27
Allergic rhinitis 7.4% 2/27
CNS infection 7.4% 2/27
Meningitis 3.7% 1/27
Recurrent infections 3.7% 1/27
Sepsis 3.7% 1/27