CCDC88A

Graph and Chart

Patient Overview : 5

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 60.0% 3/5
Female 40.0% 2/5
Indifferent 0% 0/5
Unknown 0% 0/5
General    
Birth Length abnormalities 20.0% 1/5
< P3 : Birth length less than 3rd percentile 20.0% 1/5
Birth Weight abnormalities 20.0% 1/5
< P3 : Small for gestational age 20.0% 1/5
Birth Head circumference abnormalities 60.0% 3/5
< P3 : Congenital microcephaly 60.0% 3/5
Current Height abnormalities 0% 0/5
Current Weight abnormalities 0% 0/5
Current Head circumference abnormalities 40.0% 2/5
< P3 : Microcephaly 40.0% 2/5
Neurology    
Neurological abnormalities 100.0% 5/5
Seizures 100.0% 5/5
Brisk reflexes 60.0% 3/5
Muscular hypotonia 60.0% 3/5
Hypsarrhythmia 40.0% 2/5
Infantile spasms 40.0% 2/5
Abnormality of somatosensory evoked potentials 20.0% 1/5
Myoclonus 20.0% 1/5
Spastic paraplegia 20.0% 1/5
Spastic tetraplegia 20.0% 1/5
Behavioral problems 20.0% 1/5
Absent speech 20.0% 1/5
Spasticity 20.0% 1/5
Brain abnormality 100.0% 5/5
Hypoplasia of the pons 60.0% 3/5
Polymicrogyria 60.0% 3/5
Abnormality of the corpus callosum 40.0% 2/5
Brain atrophy 40.0% 2/5
Pachygyria 40.0% 2/5
Abnormality of the cerebral white matter 20.0% 1/5
Aplasia/Hypoplasia of the cerebellum 20.0% 1/5
Cortical gyral simplification 20.0% 1/5
Dilation of lateral ventricles 20.0% 1/5
Subependymal cysts 20.0% 1/5
Facial abnormalities    
Abnormality of the eye 100.0% 3/3
Epicanthus 100.0% 3/3
Abnormality of the nose 100.0% 3/3
Short nose 100.0% 3/3
Abnormality of the mouth 100.0% 3/3
Open mouth 100.0% 3/3
Retrognathia 100.0% 3/3
Micrognathia 33.3% 1/3
Visual and hearing impairments    
Abnormal vision 100.0% 5/5
Optic atrophy 60.0% 3/5
Abnormality of eye movement 40.0% 2/5
Visual impairment 40.0% 2/5
Severe visual impairment 20.0% 1/5
Urogenital    
Abnormality of the urogenital system 20.0% 1/5
Bilateral cryptorchidism 20.0% 1/5
Skeleton    
Skeletal abnormalities 40.0% 2/5
Thoracolumbar kyphoscoliosis 40.0% 2/5
Hip contracture 20.0% 1/5
Hip dislocation 20.0% 1/5
Tapered finger 20.0% 1/5