The molecular mutation of this allele is a TG dinucleotide deletion (nt #841-842 from GenBank accession number S69352) resulting in premature stop codon upstream of the POU box and homeodomains of the encoded protein. (J:55448)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count