ATP6V1B2

Graph and Chart

Patient Overview : 3

General

Frequency of all clinical findings

Percentage Cases
Gender    
Male 100.0% 3/3
Female 0% 0/3
Indifferent 0% 0/3
Unknown 0% 0/3
General    
Birth Length abnormalities 0% 0/2
Birth Weight abnormalities 0% 0/2
Birth Head circumference abnormalities 0% 0/2
Current Height abnormalities 0% 0/2
Current Weight abnormalities 0% 0/2
Current Head circumference abnormalities 0% 0/2
Neurology    
Neurological abnormalities 66.7% 2/3
Autistic behavior 66.7% 2/3
Delayed speech and language development 66.7% 2/3
Global developmental delay 66.7% 2/3
Behavioral problems 66.7% 2/3
Autism 66.7% 2/3
Visual and hearing impairments    
Abnormal hearing 33.3% 1/3
Bilateral sensorineural hearing impairment 33.3% 1/3
Severe 33.3% 1/3
Skeleton    
Skeletal abnormalities 33.3% 1/3
Absent fifth fingernail 33.3% 1/3
Hypoplastic fifth fingernail 33.3% 1/3
Skin / Hair / Nails    
Abnormality of the skin/hair/nails 33.3% 1/3
Aplasia/Hypoplasia of the nails 33.3% 1/3
Hypoplastic toenails 33.3% 1/3