A G to A transition at position 5 in the 5' splice donor site of intron 11 causes this allele to behave like a hypomorph and is predicted to reduce, but not completely abolish, correct splicing. (J:75964)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count