A spontaneous mutation inserted upstream of the Shh promoter a 150 kb fragment of noncoding DNA from chromosome 14 between Slitrk1 and Slitrk6 that contains no coding sequences or non-coding RNAs. (J:257759)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count