Mutation is a large deletion including the Pax6 gene. Breakpoints are not precisely mapped, but the deletion is likely to include the neighboring Wilm's tumor (Wt1) gene. (J:2301, J:139665)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count