ALKBH8

Graph and Chart

Patient Overview : 9

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 77.8% 7/9
Female 22.2% 2/9
Indifferent 0% 0/9
Unknown 0% 0/9
General    
Birth Length abnormalities 0% 0/3
Birth Weight abnormalities 0% 0/3
Birth Head circumference abnormalities 0% 0/3
Current Height abnormalities 22.2% 2/9
< P3 : Short stature 22.2% 2/9
Current Weight abnormalities 11.1% 1/9
< P3 : Decreased body weight 11.1% 1/9
Current Head circumference abnormalities 22.2% 2/9
> P98 : Macrocephaly 11.1% 1/9
< P3 : Microcephaly 11.1% 1/9
Neurology    
Neurological abnormalities 88.9% 8/9
Seizures 66.7% 6/9
Hyporeflexia 22.2% 2/9
Muscular hypotonia 22.2% 2/9
Severe expressive language delay 22.2% 2/9
EEG with generalized slow activity 11.1% 1/9
Behavioral problems 66.7% 4/6
Hyperactivity 33.3% 2/6
Short attention span 33.3% 2/6
Attention deficit hyperactivity disorder 16.7% 1/6
Autistic behavior 16.7% 1/6
Brain abnormality 40.0% 2/5
Abnormality of the corpus callosum 40.0% 2/5
Abnormality of the internal capsule 40.0% 2/5
Cerebellar vermis atrophy 40.0% 2/5
Cerebellar atrophy 40.0% 2/5
Delayed CNS myelination 40.0% 2/5
Enlarged sylvian cistern 40.0% 2/5
Abnormal myelination 20.0% 1/5
Cerebral atrophy 20.0% 1/5
Dilated fourth ventricle 20.0% 1/5
Leukodystrophy 20.0% 1/5
Perivascular spaces 20.0% 1/5
Small cerebral cortex 20.0% 1/5
Facial abnormalities    
Abnormality of the ear 44.4% 4/9
Large earlobe 22.2% 2/9
Low-set ears 22.2% 2/9
Prominent antihelix 22.2% 2/9
Abnormality of the eye 33.3% 3/9
Almond-shaped palpebral fissure 22.2% 2/9
Curly hair 11.1% 1/9
Deeply set eye 11.1% 1/9
Ptosis 11.1% 1/9
Abnormality of the nose 22.2% 2/9
Low hanging columella 22.2% 2/9
Prominent nose 22.2% 2/9
Wide nasal bridge 22.2% 2/9
Abnormality of the mouth 33.3% 3/9
Tented upper lip vermilion 22.2% 2/9
Thick lower lip vermilion 22.2% 2/9
Wide mouth 22.2% 2/9
Overbite 11.1% 1/9
Heart    
Abnormality of the heart 50.0% 1/2
Aortic regurgitation 50.0% 1/2
Ventricular septal defect 50.0% 1/2
Urogenital    
Abnormality of the urogenital system 100.0% 3/3
Bilateral cryptorchidism 33.3% 1/3
Cryptorchidism 33.3% 1/3
Micropenis 33.3% 1/3
Unilateral renal agenesis 33.3% 1/3
Skeleton    
Skeletal abnormalities 66.7% 2/3
Joint hypermobility 66.7% 2/3