DOCK6

Graph and Chart

Patient Overview : 2

Frequency of all clinical findings

Percentage Cases
Gender    
Male 50.0% 1/2
Female 50.0% 1/2
Indifferent 0% 0/2
Unknown 0% 0/2
General    
Birth Length abnormalities 0% 0/0
Birth Weight abnormalities 0% 0/0
Birth Head circumference abnormalities 0% 0/0
Current Height abnormalities 0% 0/2
Current Weight abnormalities 0% 0/2
Current Head circumference abnormalities 100.0% 2/2
< P3 : Microcephaly 100.0% 2/2
Neurology    
Neurological abnormalities 100.0% 1/1
Central hypotonia 100.0% 1/1
Limb hypertonia 100.0% 1/1
Seizures 100.0% 1/1
Brain abnormality 100.0% 1/1
Hydrocephalus 100.0% 1/1
Intracerebral periventricular calcifications 100.0% 1/1
Visual and hearing impairments    
Abnormal vision 50.0% 1/2
Optic atrophy 50.0% 1/2
Visual impairment 50.0% 1/2
Skeleton    
Skeletal abnormalities 100.0% 2/2
Absent distal phalanges 50.0% 1/2
Aplasia/Hypoplasia of toe 50.0% 1/2
Aplasia/Hypoplasia of the middle phalanges of the hand 50.0% 1/2
Aplasia/Hypoplasia of fingers 50.0% 1/2
Aplasia/Hypoplasia of the middle phalanges of the toes 50.0% 1/2
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 100.0% 2/2
Aplasia cutis congenita of scalp 100.0% 2/2
Abnormality of the palmar creases 50.0% 1/2