A 452bp deletion removed the entire exon 2 and a large portion of the adjacent intron and western blot analysis failed to detect ACER2 protein in homozygotes. (J:256650)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count