SR700

MCL (IB6)

Male

Male

SR700

MCL (IB6)

Male

Male

Highlighted Images

Age at visit: 14 years
OD OS

History

This 14 year old male had normal mile stones until age 4, at which time he stopped riding his bike and seemed to regress in terms of his social interaction and visual acuity. He also had edematous feet as a baby and his head circumference was smaller than normal.

Pedigree

Age at visit: 14 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
MCL KIF11 Thr65 del2acAT   AD
Disease:
Gene:
Allele 1:
Thr65 del2acAT
Allele 2:
 
Inheritance:
AD
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