This mutation is associated with the distal breakpoint, in band 7E1, of the Chr 7 inversion In(7)4Rl. This breakpoint is associated with the lethal phenotype of the inversion, which is not complemented by the Tyr-locus deletion Tyrc-26DVT. (J:29904)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count