Patient Overview : 1

Frequency of all clinical findings

Percentage Cases
Gender    
Male 0% 0/1
Female 100.0% 1/1
Neurology    
Neurological abnormalities 100.0% 1/1
Delayed speech and language development 100.0% 1/1
Neurodevelopmental delay 100.0% 1/1
Facial abnormalities    
Abnormality of the ear 100.0% 1/1
Abnormality of the pinna 100.0% 1/1
Long ear 100.0% 1/1
Abnormality of the eye 100.0% 1/1
Hypertelorism 100.0% 1/1
Abnormality of the nose 100.0% 1/1
Anteverted nares 100.0% 1/1
Prominent nose 100.0% 1/1
Abnormality of the mouth 100.0% 1/1
High palate 100.0% 1/1
Long philtrum 100.0% 1/1
Retrognathia 100.0% 1/1
Thick vermilion border 100.0% 1/1
Heart    
Abnormality of the heart 100.0% 1/1
Patent ductus arteriosus 100.0% 1/1
Skeleton    
Skeletal abnormalities 100.0% 1/1
Aplasia/Hypoplasia of the phalanges of the hand 100.0% 1/1
Hypoplasia of the phalanges of the toes 100.0% 1/1
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 100.0% 1/1
Abnormal palmar dermatoglyphics 100.0% 1/1
Aplastic/hypoplastic toenail 100.0% 1/1
Hypertrichosis 100.0% 1/1
Hypoplastic fingernail 100.0% 1/1