This is a deletion of at least 600 kb on chromosome 12. The deletion may extend to the end of the chromosome. Genes identified within the deleted region include the Dnahc11 gene, which is mutated in the iv allele, and the Sp4 gene. (J:33573, J:44093)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count