SR818

MCL (IB6)

Male

Male

SR818

MCL (IB6)

Male

Male

Highlighted Images

Age at visit: 13 years
OD OS

History

This 10 year old boy was first noted to have reduced acuity during a routine doctor visit at age 5. This child's head circumference 52.5 cm which is approximately 13th percentile for his age.

Pedigree

Age at visit: 10 years
Age at visit: 10 years (Visit 2)
Age at visit: 12 years
Age at visit: 13 years
Age at visit: 15 years
Age at visit: 17 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
MCL KIF11 Ser233Asn AG(T)>AA(T)   AD
Disease:
Gene:
Allele 1:
Ser233Asn AG(T)>AA(T)
Allele 2:
 
Inheritance:
AD
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