KCNH1

Graph and Chart

Patient Overview : 1

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 100.0% 1/1
Female 0% 0/1
Indifferent 0% 0/1
Unknown 0% 0/1
General    
Birth Length abnormalities 0% 0/1
Birth Weight abnormalities 0% 0/1
Birth Head circumference abnormalities 0% 0/1
Current Height abnormalities 0% 0/1
Current Weight abnormalities 0% 0/1
Current Head circumference abnormalities 0% 0/1
Neurology    
Neurological abnormalities 100.0% 1/1
Intellectual disability, profound 100.0% 1/1
Seizures 100.0% 1/1
Facial abnormalities    
Abnormality of the eye 100.0% 1/1
Prominent epicanthal folds 100.0% 1/1
Abnormality of the nose 100.0% 1/1
Depressed nasal bridge 100.0% 1/1
Short columella 100.0% 1/1
Abnormality of the mouth 100.0% 1/1
Downturned corners of mouth 100.0% 1/1
Gingival overgrowth 100.0% 1/1
Skeleton    
Skeletal abnormalities 100.0% 1/1
Aplasia/Hypoplasia of the distal phalanges of the hand 100.0% 1/1
Pseudoepiphyses of hand bones 100.0% 1/1
Wide tufts of distal phalanges 100.0% 1/1
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 100.0% 1/1
Aplastic/hypoplastic toenail 100.0% 1/1
Hypoplastic fingernail 100.0% 1/1