An 8 base pair deletion in the region of exon 2, which encodes the homeodomain, results in a frameshift beginning at amino acid 226 that is predicted to replace the C-terminal 106 amino acids with an anomalous 171 amino acids. (J:147782)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count