ATN1

Graph and Chart

Patient Overview : 8

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 25.0% 2/8
Female 75.0% 6/8
Indifferent 0% 0/8
Unknown 0% 0/8
General    
Birth Length abnormalities 0% 0/8
Birth Weight abnormalities 0% 0/8
Birth Head circumference abnormalities 0% 0/8
Current Height abnormalities 0% 0/8
Current Weight abnormalities 25.0% 2/8
< P3 : Decreased body weight 25.0% 2/8
Current Head circumference abnormalities 0% 0/8
Neurology    
Neurological abnormalities 100.0% 8/8
Central hypotonia 100.0% 8/8
Seizures 37.5% 3/8
Epileptic encephalopathy 25.0% 2/8
Hyperkinesis 12.5% 1/8
Infantile spasms 12.5% 1/8
Limb hypertonia 12.5% 1/8
Progressive spasticity 12.5% 1/8
Brain abnormality 75.0% 6/8
Aplasia/Hypoplasia of the corpus callosum 50.0% 4/8
Aplasia of the falx cerebri 37.5% 3/8
Cerebral atrophy 37.5% 3/8
Perisylvian polymicrogyria 37.5% 3/8
Abnormality of the cerebellar vermis 12.5% 1/8
Abnormality of the periventricular white matter 12.5% 1/8
Aplasia/Hypoplasia of the cerebellar vermis 12.5% 1/8
Polymicrogyria 12.5% 1/8
Facial abnormalities    
Abnormality of the ear 100.0% 8/8
Low-set ears 100.0% 8/8
Abnormality of the eye 25.0% 2/8
Cortical visual impairment 12.5% 1/8
Microphthalmia 12.5% 1/8
Abnormality of the mouth 87.5% 7/8
Open mouth 75.0% 6/8
Downturned corners of mouth 12.5% 1/8
Visual and hearing impairments    
Abnormal hearing 71.4% 5/7
Hearing impairment 42.9% 3/7
Childhood onset sensorineural hearing impairment 14.3% 1/7
Chronic otitis media 14.3% 1/7
Abnormal vision 71.4% 5/7
Cortical visual impairment 57.1% 4/7
Visual impairment 14.3% 1/7
Heart    
Abnormality of the heart 50.0% 4/8
Coarctation of aorta 12.5% 1/8
Hypoplastic left heart 12.5% 1/8
Patent foramen ovale 12.5% 1/8
Primum atrial septal defect 12.5% 1/8
Secundum atrial septal defect 12.5% 1/8
Ventricular septal defect 12.5% 1/8
Gastrointestinal    
Gastrointestinal abnormalities 87.5% 7/8
Gastroesophageal reflux 62.5% 5/8
Dysphagia 50.0% 4/8
Anteriorly placed anus 25.0% 2/8
Chronic constipation 25.0% 2/8
Gastrostomy tube feeding in infancy 12.5% 1/8
Pyloric stenosis 12.5% 1/8
Urogenital    
Abnormality of the urogenital system 50.0% 4/8
Recurrent urinary tract infections 25.0% 2/8
Cryptorchidism 12.5% 1/8
Hydronephrosis 12.5% 1/8
Renal hypoplasia 12.5% 1/8
Unilateral renal agenesis 12.5% 1/8
Vesicoureteral reflux 12.5% 1/8
Skeleton    
Skeletal abnormalities 87.5% 7/8
Scoliosis 37.5% 3/8
Cervical spinal canal stenosis 12.5% 1/8
Finger joint hypermobility 12.5% 1/8
Hip dysplasia 12.5% 1/8
Sagittal craniosynostosis 12.5% 1/8
Short phalanx of finger 12.5% 1/8