This spontaneous 27-kb deletion begins in the third exon and extends into the intergenic sequence, thus including the chondroitin N-acetylgalactosaminyltransferase (CHGN) domain and creating a loss of function mutation.
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count